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MELBOURNE, Australia, Dec. 02, 2020 (GLOBE NEWSWIRE) -- Molecular diagnostics company Genetic Technologies Ltd (ASX: GTG; NASDAQ: GENE, the Company), announced today that they have entered into a three-year partnership agreement with mental health company, Taliaz, for the distribution rights of their PREDICTIX products in Australia, New Zealand and the USA (Agreement).

Key Highlights

The Agreement will support GTG to expand its product offering and establish the mental health vertical by harnessing PREDICTIX, Taliazs pioneering decision-support and management platform to optimize patient treatment for mental health disorders. Starting in the field of depression, this genomic-based, Artificial Intelligence (AI) driven antidepressant selection technology, marks GTGs first foray into pharmacogenomics1.

George Muchnicki, GTGs Interim CEO stated: We are incredibly pleased to have partnered with Taliaz to bring their predictive and personalized mental health product to Australia and New Zealand. GTG are at the forefront of providing personalized and predictive products to empower patients to make informed decisions about their health. This distribution agreement is our first external product partnership and our first product within the mental health vertical. Mental health has remained at the forefront of media discussions and government initiatives within Australia, New Zealand and globally due to the ongoing social and economic impact and given the impact from the current global pandemic. We look forward to working closely with the Taliaz team to deliver their product into these markets at this critical time.

The execution of the Agreement is reliant on product regulatory clearance by the Therapeutic Goods Administration (TGA) in Australia and Food and Drug Administration (FDA) in the USA. Once cleared, GTG has committed to providing a minimum distribution of 8,000 tests over the initial three-year term with an associated minimum cost to GTG of $200,000 over the term, inclusive of licencing fees and a percentage based fee per test paid to Taliaz. Subject to the regulatory clearance process, GTG anticipates that PREDICTIX will be made available for sale and distribution in Australia and New Zealand in Q3 FY21 on GTGs existing Consumer Initiated Testing (CIT) platform, with end-customer pricing to be determined but anticipated to be in line with existing GTG product pricing.

PREDICTIX, developed by the private Israeli company, Taliaz, addresses the growing burden on society from depression, with 1 in 10 Americans2 and 1 in 8 Australians3 prescribed antidepressants per year. PREDICTIX enables a more accurate and rapid treatment plan for patients suffering from depression, reducingtreatment costs and the overall associated economic burden.

PREDICTIX is an algorithmic-based decision support tool that can improve todays antidepressant prescribing accuracy by 47%4. Combining DNA testing with AI, PREDICTIX empowers doctors to improve the assessment, treatment, and management of mental health disorders.

The PREDICTIX technology uses AI to analyse multiple data streams, including patients genomic, clinical history and demographic background, providing doctors with a personalized patient report. The report ranks the statistical efficacy and potential side effects of various antidepressant medication based on each patients genetic makeup andhealth record. This helps doctors optimize prescribing decisions for patients diagnosed with depressive disorder, where there is currently a long and painful trial and error period. PREDICTIX is CE-registered and commercially available in the UK, France and Israel, with the process underway for TGA approval.

Dekel Taliaz, CEO and Co-founder of Taliaz said, We are excited to partner with Genetic Technologies, world-leaders in the genetic risk assessment space. This new partnership will support rapid commercialization of PREDICTIX to help more depression sufferers in Australia, New Zealand and the USA, while adding a complementary and advanced mental health solution to GTGs growing suite of DNA tests.

The Agreement strengthens GTGs mission in creating a suite of tests to enable a holistic and predictive health assessment for patients, which can be adjusted to address the individual patient risks and needs. Establishing the first product within the mental health and pharmacogenetic space continues GTGs progress towards being able to offer a highly comprehensive suite of polygenic risk assessment tests via GTGs CIT platform and additional sales and marketing avenues as these are progressed.

This announcement was approved by the Board of Directors of Genetic Technologies Limited.

About Genetic Technologies Limited

Genetic Technologies Limited (ASX: GTG; Nasdaq: GENE) is a diversified molecular diagnostics company. GTG offers cancer predictive testing and assessment tools to help physicians proactively manage patient health. The Companys lead products GeneType for Breast Cancer for non-hereditary breast cancer and GeneType for Colorectal Cancer are clinically validated risk assessment tests and are first in class. Genetic Technologies is developing a pipeline of risk assessment products.

For more information, please visit http://www.gtglabs.com

About Taliaz

Taliaz is revolutionizing the treatment and management of mental health disorders with PREDICTIX. PREDICTIX is a CE-registered product that provides an advanced decision support software for psychiatrists and general practitioners. Harnessing artificial intelligence, PREDICTIX can enable easy, effective and rapid patient assessment, improved prescribing precision and management for a wide range of mental health conditions. Starting in the field of depression, the PREDICTIX Genetics and PREDICTIX Digital products can improve todays prescribing accuracy by up to 47%4.

For more information, please visit predictix.ai.

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Genetic Technologies Secures US and ANZ Distribution Rights for PREDICTIX - BioSpace

Washington, D.C. November 30, 2020 Today Consumer Federation of America released a new report,Marketing Direct-to-Consumer Genetic Testing: Are Consumers Getting What They Think They Are?It examines the claims direct-to-consumer (DTC) genetic testing companies make for these services, the information they provide to consumers about them, the variance of results from one company to another, the up-selling that occurs, and the companies terms of service and privacy policies. With the holidays coming up and DTC genetic testing companies promoting their services as the perfect gift, we wanted to help educate consumers about the benefits, limitations, and risks of these tests, said report author, Susan Grant, CFAs Director of Consumer Protection and Privacy. Nick Roper, Administrative and Advocacy Associate at CFA, assisted her with the research.

Conducted with a grant from the Rose Foundation, the study focused on six companies: 23andMe, Ancestry, FamilyTreeDNA, HomeDNA, LivingDNA, and MyHeritage. In order to compare the results, CFAs Grant took the basic ancestry tests from each company. We found that theres much about these tests consumers may not realize, said Grant. They need to be better informed and better protected.

What the CFA Study Found

Consumers might be surprised to know that most DTC genetic tests are not reviewed by the government before theyre marketed to confirm the claims made for them, their accuracy, or their validity, said Grant. There is a lot of helpful information on DTC genetic testing companies websites about genetics and how their services work, but were concerned that not many consumers will delve into it and assume theyll get more detailed and conclusive results than they actually will.

Recommendations

On the basis of the study, CFA made these recommendations:

DTC genetic testing companies should refrain from making specific accuracy claims.

In conjunction with the report, CFA released tips for consumers,9 Questions and Answers about DTC Genetic Testing.The full report ishere. A shorter version of the report is availablehere.

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Are Consumers Getting What They Think They Are with Genetic Testing? - YubaNet

Most camels and their cousins, alpacas and llamas, have a reputation for being somewhat irritable and belligerent; thats backed up with occasional bouts of spitting, biting and cantankerous behaviour. They have been domesticated for a few thousand years, but they still seem to have a lofty sense of dignity despite humans trying to break their spirit. The noble camel has endured being a beast of burden and even a racing animal. But becoming a dairy animal is a work in progress as patient folks who handle them have found out since they were first tamed. Humans have milked or tried to milk camels for thousands of years; the milk is particularly nutritious and a protein source in many middle east and African societies to this day. The fact that massive camel dairy operations have sprung up would indicate that camel milk is still popular within the middle easts urbanized community and has a growing interest in other parts of the world. Camel dairy operations have started up in the USA and Australia to supply new markets, but they are modest in size. The biggest hurdle is trying to turn the camel into an efficient dairy animal with ever-increasing regular milk production assisted by mechanical handling. Thats a description of the typical bovine dairy animal of today.From a dairy perspective, the camel cow is genetically 200 years behind the average bovine dairy cow. The camel is nowhere near as docile, cooperative, nor as remotely productive as a modern dairy cow. Thats the result of longtime intensive selection as none of the other milked species started out as happy, productive dairy animals. However, modern Western-style camel dairy operations are making progress through a genetic selection process, camel training and unique camel milking and handling equipment. Some of the large middle east camel dairy operations employ highly skilled professionals that guide production increases.Interestingly, a small tribal group in Northern Kenya who are highly dependent on camel milk has, through selection, created a higher milk yielding strain of camel, so it can be done. The one fast-track system to a better milking camel cow is through mass selection. In the middle east and Australia, they have access to literally hundreds of thousands of local camel cows, both wild and captive. That enables them through a process of elimination to find the one cow in a hundred that might make a good docile camel dairy cow for a commercial dairy operation. However, selection would seem to be the easy part; its the milking part where it gets more complicated. Unlike other milking species like goats, sheep and bovines, the camel does not easily let down its milk; it needs significant stimulation and then only produces at intervals. In traditional settings, the presence of a camel cows calf provides the stimulation, and a person then hand milks the cow. Considering the camels cranky nature, that alone would seem to be a dangerous and haphazard process, never mind the food safety and sanitation concerns. Clearly, that wont work in a commercial dairy operation where thousands of camels have to be milked twice a day. Hence the big sophisticated operators in the middle east have developed protocols and equipment that eliminates most calf stimulation. Still, they must be using some sort of method to keep milk production up on a regular and consistent basis. All of that would seem to be transferable to a potentially large operation in Alberta, but a reliable source of camels would be needed. The other part is the huge capital investment, one of the largest middle east dairies started with an investment of $20 million and now has over 500 employees. Granted, this large operator controls camel milk from production to processing to worldwide marketing. It must be profitable as these large operations continue to expand in the middle east. A substantial commercial camel dairy operation in North America would have some advantages. Firstly, there is seemingly a large local market to absorb camel milk. Secondly is camel feed. The big outfits in the middle east import large quantities of costly alfalfa hay and other feedstuffs from Australia and North America to provide consistent quality feed to produce a steady supply of milk. Mammals, in general, produce surplus milk only through excess fat and protein consumption. But feed and markets arent enough of an advantage its finding enough of those darned cranky camel cows to milk. More next time. Will Verboven is an ag opinion writer and ag policy advisor.

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Cranky camels make difficult dairy cows part two but technology and genetics are making some headway - Brooks Bulletin

The unique male [white] giraffe now stands aloneafter a female and her calf were killed by poachers in March.

[A] GPS tracking device, secured to one of the animals horns, will give hourly updates of his location, said the Ishaqbini Hirola Community Conservancy in a press release on [November 17].

Rangers will be able to monitor the giraffes movements in the conservancy located in Garissa County, eastern Kenya.

The giraffes grazing range has been blessed with good rains in the recent past and the abundant vegetation bodes well for the future of the white male, said Ahmed Noor, manager of the Ishaqbini Hirola Community Conservancy.

Noor thanked the Kenya Wildlife Service, Save Giraffes Now and the Northern Rangelands Trust (NRT) for their help in safeguarding wildlife species.

Our mission is to work with communities, enable them [to] be resilient, secure their livelihoods as well as protect the unique wildlife like the only known white giraffe, said Antony Wandera, senior wildlife monitoring officer at the NRT.

The male giraffe has a rare genetic trait called leucism, which results in the partial loss of pigmentation in an animal and makes it easy to spot for poachers on the arid savannah.

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Last surviving white giraffe, a genetic anomaly, fitted with GPS tracker to deter poachers - Genetic Literacy Project

1. Background

a. This Scholarship has been established to provide financial assistance to a PhD student who is undertaking research in law and genetics.

b. This Scholarship is funded by an Australian Research Council (ARC) research project.

a. The Scholarship is offered subject to the applicant having an unconditional offer of admission or being currently enrolled to study full-time in a PhD within the University of Sydney Law School.

b. Applicants must be willing to conduct research in law and genetics.

c. Applicants must hold an Honours degree (first class or second upper) or equivalent in Law.

d. Applicants must have previous research experience in Law.

a. The successful applicant will be awarded the Scholarship on the basis of:

I. academic merit,

II. area of study and/or research proposal,

III. curriculum vitae,

IV. a personal statement which demonstrates their interest in law and genetics

V. and previous research achievements, and

VI. previous research experience.

b. The successful applicant will be awarded the Scholarship on the nomination of the Sydney Law School Associate Dean (Research Education) and the relevant research supervisor(s), or their nominated delegate(s).

a. The Scholarship will provide a stipend allowance of $26,300 per annum for up to three years, subject to satisfactory academic performance.

b. The recipient may apply for an extension of the stipend allowance for up to six months.

c. Periods of study already undertaken towards the degree prior to the commencement of the Scholarship will be deducted from the maximum duration of the Scholarship excluding the potential extension period.

d. The Scholarship is for commencement in the relevant research period in which it is offered and cannot be deferred or transferred to another area of research without prior approval.

e. No other amount is payable.

f. The Scholarship and any potential extension period will be offered subject to ARC approval and the availability of funding.

a. Progression is subject to passing the annual progress review.

a. The Scholarship recipient receives up to 20 working days recreation leave each year of the Scholarship and this may be accrued. However, the student will forfeit any unused leave remaining when the Scholarship is terminated or complete. Recreation leave does not attract a leave loading and the supervisor's agreement must be obtained before leave is taken.

b. The Scholarship recipient may take up to 10 working days sick leave each year of the Scholarship and this may be accrued over the tenure of the Scholarship. Students with family responsibilities, caring for sick children or relatives, or experiencing domestic violence, may convert up to five days of their annual sick leave entitlement to carers leave on presentation of medical certificate(s). Students taking sick leave must inform their supervisor as soon as practicable.

a. The Scholarship recipient may not normally conduct research overseas within the first six months of award.

b. The Scholarship holder may conduct up to 12 months of their research outside Australia. Approval must be sought from the student's supervisor and the Sydney Law School Associate Dean (Research Education) via application to the Higher Degree by Research Administration Centre (HDRAC), and will only be granted if the research is essential for completion of the degree. All periods of overseas research are cumulative and will be counted towards a student's candidature. Students must remain enrolled full-time at the University and receive approval to count time away.

a. The Scholarship recipient cannot suspend their award within their first six months of study, unless a legislative provision applies.

b. The Scholarship recipient may apply for up to 12 months suspension of the Scholarship for any reason during the tenure of the Scholarship. Periods of Scholarship suspension are cumulative and failure to resume study after suspension will result in the award being terminated. Approval must be sought from the student's supervisor and the Sydney Law School Associate Dean (Research Education) via application to the Higher Degree by Research Administration Centre (HDRAC). Periods of study towards the degree during suspension of the Scholarship will be deducted from the maximum tenure of the Scholarship.

a. The Scholarship recipient must notify HDRAC, and their supervisor promptly of any planned changes to their enrolment including but not limited to: attendance pattern, suspension, leave of absence, withdrawal, course transfer, and candidature upgrade or downgrade. If the award holder does not provide notice of the changes identified above, the University may require repayment of any overpaid stipend.

a. The Scholarship will be terminated:

I. on resignation or withdrawal of the recipient from their research degree,

II. upon submission of the thesis or at the end of the award,

III. if the recipient ceases to be a full-time student and prior approval has not been obtained to hold the Scholarship on a part-time basis,

IV. upon the recipient having completed the maximum candidature for their degree as per the University of Sydney (Higher Degree by Research) Rule 2011 Policy,

V. if the recipient receives an alternative primary stipend scholarship. In such circumstances this Scholarship will be terminated in favour of the alternative stipend scholarship where it is of higher value,

VI. if the recipient does not resume study at the end of a period of approved leave, or

VII. If the recipient ceases to meet the eligibility requirements specified for this Scholarship, (other than during a period in which the Scholarship has been suspended or during a period of approved leave).

b. The Scholarship may also be terminated by the University before this time if, in the opinion of the University:

I. the course of study is not being carried out with competence and diligence or in accordance with the terms of this offer,

II. the student fails to maintain satisfactory progress, or

III. the student has committed misconduct or other inappropriate conduct.

c. The Scholarship will be suspended throughout the duration of any enquiry/appeal process.

d. Once the Scholarship has been terminated, it will not be reinstated unless due to University error.

a. Where during the Scholarship a student engages in misconduct, or other inappropriate conduct (either during the Scholarship or in connection with the students application and eligibility for the Scholarship), which in the opinion of the University warrants recovery of funds provided, the University may require the student to repay payments made in connection with the Scholarship. Examples of such conduct include and without limitation; academic dishonesty, research misconduct within the meaning of the Research Code of Conduct (for example, plagiarism in proposing, carrying out or reporting the results of research, or failure to declare or manage a serious conflict of interests), breach of the Code of Conduct for Students and misrepresentation in the application materials or other documentation associated with the Scholarship.

b. The University may require such repayment at any time during or after the Scholarship period. In addition, by accepting this Scholarship, the student consents to all aspects of any investigation into misconduct in connection with this Scholarship being disclosed by the University to the funding body and/or any relevant professional body.

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Postgraduate Research Scholarship in Law and Genetics - News - The University of Sydney

Rare Disease Genetic Testing Market analysis report gives clear idea about the market potential for each geographical region based on the growth rate, macroeconomic parameters, consumer buying patterns, possible future trends, and market demand and supply scenarios. Competitive analysis is the major feature of any market research report, and hence Rare Disease Genetic Testing Market report covers many points including strategic profiling of key players in the market, analyse core competencies of key players, and draw a competitive landscape for the Rare Disease Genetic Testing industry. Different components which are in charge of market development, has been analyzed clearly in this report.

A reliable Rare Disease Genetic Testing Market report conducts the market overview with respect to general market conditions, market improvement, market scenarios, development, cost and profit of the specified market regions, position and comparative pricing between major players. The report involves the market drivers and limitations which are obtained from SWOT analysis. By working with a number of steps of collecting and analysing market data, this finest Rare Disease Genetic Testing Market research report is framed with the expert team. The large scale Rare Disease Genetic Testing Market report comprises of various segments linked to Rare Disease Genetic Testing industry and market with comprehensive research and analysis.

Rare disease genetic testing market is expected to gain market growth in the forecast period of 2020 to 2027. Data Bridge Market Research analyses the market to account to grow at a CAGR of 8.30% in the above-mentioned forecast period. The increase in the facilities for patients affected by rare diseases has been directly impacting the growth of rare disease genetic testing market.

Get Free Sample Copy of the Report to understand the structure of the complete report @ https://www.databridgemarketresearch.com/request-a-sample/?dbmr=global-rare-disease-genetic-testing-market

GlobalRare Disease Genetic TestingMarket Scope and Market Size

Rare disease genetic testing market is segmented on the basis of disease type, technology, specialty and end use. The growth amongst these segments will help you analyze meager growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.

Rare Disease Genetic Testing Market Country Level Analysis:

The countries covered in the Rare Disease Genetic Testing Market report are U.S., Canada, Mexico in North America, Germany, Poland, Ireland, Italy, U.K., France, Spain, Netherland, Belgium, Switzerland, Turkey, Russia, Rest of Europe in Europe, Japan, China, India, South Korea, New Zealand, Vietnam, Australia, Singapore, Malaysia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in Asia-Pacific (APAC), Brazil, Argentina, Chile, Rest of South America as a part of South America, U.A.E, Saudi Arabia, Egypt, Kuwait, South Africa, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA).

Check Table of Contents of This Report @ https://www.databridgemarketresearch.com/toc/?dbmr=global-rare-disease-genetic-testing-market

Leading Rare Disease Genetic Testing manufacturers/companies operating at both regional and global levels:

Quest Diagnostics, Inc., Centogene N.V., Eurofins Scientific, Strand Life Sciences, Ambry Genetics, PerkinElmer, Inc., Macrogen, Inc., Baylor Genetics, Color, Health Network Laboratories, L.P., Preventiongenetics, Progenity, Inc., Invitae Corporation, 3billion, Inc., Arup Laboratories, Coopersurgical, Inc., Fulgent Genetics, Myriad Genetics, Inc., Laboratory Corporation Of America Holdings and Opko Health, Inc., among other domestic and global players.

Key points of the report

Reasons for purchasing this Report

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Table Of Contents: Rare Disease Genetic Testing MarketPart 01: Executive Summary

Part 02: Scope Of The Report

Part 03: Research Methodology

Part 04: Market Landscape

Part 05: Pipeline Analysis

Part 06: Market Sizing

Part 07: Five Forces Analysis

Part 08: Market Segmentation

Part 09: Customer Landscape

Part 10: Regional Landscape

Part 11: Decision Framework

Part 12: Drivers And Challenges

Part 13: Market Trends

Part 14: Vendor Landscape

Part 15: Vendor Analysis

Part 16: Appendix

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Data Bridge Market Research set forth itself as an unconventional and neoteric Market research and consulting firm with unparalleled level of resilience and integrated approaches. We are determined to unearth the best market opportunities and foster efficient information for your business to thrive in the market. Data Bridge Market Research provides appropriate solutions to the complex business challenges and initiates an effortless decision-making process.

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Rare Disease Genetic Testing Market To Account To Grow At A CAGR Of 8.30% In The Forecast Period Of 2020 To 2027 | Top Companies- Quest Diagnostics,...

The information below has been supplied by dairy marketers and other industry organizations. It has not been edited, verified or endorsed by Hoards Dairyman.

New Generation Genetics is excited to welcome Lauren Hendel as U.S. Sales and Progeny Specialist effective December 1, 2020.

Lauren brings diverse experience and knowledge of the dairy genetics industry. This includes experience in marketing, daughter progeny identification and photography, customer service, and A.I. bull care, collection, and semen processing.Most recently, she worked as a Genetic Consultant in southern Wisconsin.In this role she helped customers reach their genetic goals through sire selection and mating.

Laurens passion for Brown Swiss began at a young age. Growing up, she was actively involved on her familys 400-cow dairy, near Caledonia, MN. Hendel Farms has been home to registered Brown Swiss since 1922.

Lauren has an ideal skill set for this position and will be a very valuable asset to NGG going forward, stated CEO Dan Gilbert.We are confident Breeders in the Midwest and West will benefit and appreciate working with her.

Lauren is a graduate of the University of Minnesota Twin Cities with a Bachelor of Animal Science and minor in Agricultural and Food Business Management. While there she was active in the Gopher Dairy Club, and a member of the dairy judging and dairy challenge teams.

Lauren will be working out of the home office in Fort Atkinson, WI and will be covering semen sales in the Midwest & Western regions of the USA. Lauren will also coordinate progeny photography, assist with NGG's social media platform, press releases, advertising, web site maintenanceand other office responsibilities.

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New Generation Genetics is excited to welcome Lauren Hendel as US Sales and Progeny Specialist effective December 1, 2020. - Hoard's Dairyman

Some people seem to be born with a happier, carefree disposition than others, and research indicates that yes some of your sense of well-being may be in your genes. But only partly.

Your genes make up an estimated 40% of your ability to be happy, says psychotherapist Susan Zinn of Susan Zinn Therapy in Santa Monica, California.

But that doesn't mean that if you weren't born with certain genes, you're destined to be unhappy. Zinn says that "it's completely possible to rewire our brains for happiness," because the other 60% of happiness comes down to lifestyle and other environmental factors.

Learn more about how your genetic makeup contributes to your life satisfaction and how you can increase feelings of happiness and well-being regardless of what your genetic sequence might say about you.

Happiness is typically determined by three main components, according to Zinn:

Research indicates that we can inherit many traits including optimism, self-esteem, and happiness. So by that logic, yes, there are genes that may predispose you to a happier disposition.

For example, a 2011 study found promising evidence that people with a certain form of the gene called 5-HTTLPR reported higher life satisfaction.

And a landmark study in 2016 that formally linked happiness to genetics involved the DNA of nearly 300,000 people. The researchers pinpointed three specific genetic variants associated with well-being. But they also found that these genetic variations weren't the only factor. An interplay of genetics and environment also contributed to happiness.

Despite your genetic makeup, there are ways you can learn to be happier, even in difficult times. Other traits, such as resilience, can be cultivated over time.

"You have a choice," Zinn says. "It's no different than deciding what to wear or what food to order. When it comes to happiness, there's a lot we can do about it."

One way to achieve a happier state is to let go of a quest for perfectionism that focuses only on the end goal of success, Zinn says. Linking happiness with perfectionism and success is common in American culture, but it leads you to concentrate on the summit of what you want to achieve rather than the journey of what happens along the way.

Here are some other practical ways to choose happiness:

Although research suggests that happiness is inherited to some extent, you're not limited by your DNA. The ability to feel happy takes practice and can be achieved with the right mindset.

Volunteering, exercise, nature, and attention to gratitude practices are just a few things you can do to increase your sense of life satisfaction, well-being, purpose, and ultimately, happiness.

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Scientists think about 40% of happiness is genetic while the rest comes down to 3 main components - Insider - INSIDER

Happiness is significantly determined at birth.

Or so says psychotherapist Susan Zinn, who runs an eponymous therapy practice in Santa Monica, California.

Close to 40% of human happiness is a result of good genes, Zinn told Insider this month. The claim is backed by research published in 2016 in the Journal of Happiness Studies.

[Genetic] influencesaccount for 3240% of the variation in overall happiness, the studys authors wrote in its abstract.

For example, having a specific variation of the gene 5-HTTLPR, according to a separate 2011 study, was found to likely contribute to humans having higher life satisfaction.

Having joyous DNA doesnt promise people a contented life, though. More than half of the factors which determine happiness levels relate to nurture, not nature, Zinn said.

[Its] completely possible to rewire our brains for happiness, said Zinn. You have a choice. Its no different than deciding what to wear or what food to order. When it comes to happiness, theres a lot we can do about it.

What determines a happy existence, lucky genes or not, breaks down into three main parts: How satisfied you are with your life, how engaged you are with daily activities from your relationships to your job and how much purpose you feel you have.

For those seeking to lead happier lives, Zinn recommends dropping the pursuit for perfection and instead focusing energy on volunteering, laughing, feeling grateful, eating well, exercising and connecting with a higher power or otherwise tapping into spirituality to find more purpose.

One survey this year found that acting spontaneously can also be a key to happiness. Another study identified enjoying short-term pleasures as a good strategy for achieving peace of mind.

In addition to good genes, having money has also been found to be correlated with increased happiness despite the old adage.

Americans as a whole, however, are nationally bummed out more than they have been in close to 50 years. Comparatively, Hawaii has been found to be the happiest state.

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Nearly half of happiness is genetic, so most of us are doomed - New York Post

Tara Kirk, pictured with her husband, found out she has a gene mutation that puts her at higher risk for several cancers.

Source: Tara Kirk

Tara Kirk was 6 years old when her mother died of lung cancer.

Almost three decades later, at the age of 34, Kirk found out she had a gene mutation that increases her risk of developing a number of diseases, most notably colon and endometrial cancers.

"I was in denial that I could have had it," said Kirk, now 36 and living in Houston with her husband and son.

When people think of gene mutations, the breast cancer (BRCA) genes often come to mind. Actress Angelina Jolie famously laid out her decision to have a preventive double mastectomy after her BRCA1 diagnosis back in 2013.

The lifetime risk of breast cancer is increased by 20% to 49% for women with moderate-risk gene mutations and 50% or higher with those who have high-risk mutations, according to Susan G. Koman.

Angelina Jolie had a preventive double mastectomy in 2013, after discovering she had a BRCA mutation.

Samir Hussein | WireImage | Getty Images

In fact, researchers have associated mutations in specific genes with about 50 hereditary cancer syndromes, according to the National Cancer Institute.

For Kirk, it is the gene known as MSH6, one of several mutations that are classified as Lynch Syndrome.

While there was family history of cancer, she only got tested after her aunt was diagnosed with endometrial cancer. Kirk now believes her mother's cancer may have started elsewhere before traveling to the lungs.

Since her diagnosis, Kirk goes for annual screenings, including a colonoscopy, endometrial biopsy, ultrasound, and full body skin exam. She gets an upper endoscopy every other year and was told when she reaches 40, she should have her uterus and ovaries removed.

Fortunately, Kirk has insurance. About $3,500 a year comes out of her paycheck to pay for her employer-sponsored insurance and she spends an additional $2,000 a year out-of-pocket for her surveillance. It's a small price to pay for the chance to catch cancer early, she said.

"My very first colonoscopy they found a precancerous polyp, so knowledge saved my life," Kirk said.

Not everyone is a candidate for genetic testing. In fact, only about 5% to 10% of all cancers are considered hereditary, although it varies by the specific cancer.

About one in 400 women have a BRCA1 or BRCA2 mutation, although those of Ashkenazi Jewish heritage have a higher risk: one in 40. Lynch syndrome affects approximately one in 270 people and causes about 3% to 5% of colon cancers and 2% to 3% of uterine cancers.

Tara Kirk and her mom in December 1988.

Source: Tara Kirk

To determine if you have a gene mutation, first gather your family history and see your doctor, said Susan Brown, senior director of education and support at Susan G. Komen.

If your health-care provider thinks you might have a hereditary mutation, you'll be referred to a genetic counselor, who may order a blood or saliva test.

"It's an easy test," Brown said. "The ramifications of the results can be a little more complicated.

"If you have a positive mutation, then you have to think about what you are going to do with that information."

Testing costs anywhere from a couple hundred dollars to several thousand dollars and may be covered by insurance. The multigene panel is pricey, since it surveys a number of genes.

If someone in your family has already been diagnosed with a specific mutation, you can be tested for that mutation alone, which is a lot cheaper. For those who don't have health insurance, many of the gene-testing companies have programs that bring the cost down to $250 to $300.

My very first colonoscopy they found a precancerous polyp, so knowledge saved my life.

Tara Kirk

Lynch Syndrome patient

Coverage of BRCA testing for women is required under the Affordable Care Act, although the fate of the law is uncertain. The U.S. Supreme Court is set to hear arguments on whether the ACA is constitutional after the election in November.

Coverage for other gene mutations is optional, but has grown in recent years, according to Lisa Schlager, vice president of public policy at the hereditary cancer advocacy organization FORCE, which stands for Facing Our Risk of Cancer Empowered.

"They do [cover testing] for the most part, but it can incur or involve out-of-pocket costs," she said.

Then there are direct-to-consumer companies like 23andMe and Ancestry. Generally, direct-to-consumer tests are not part of recommended clinical practice, according to the National Cancer Institute.

"If they are not done through a doctor in an approved lab, there is potential for errors," Komen's Brown explained.

Some tests may only check for a few mutations.

"You may make a decision and have an understanding of your risk based on incomplete information," she said.

More from Invest in You:Yes, you can negotiate medical bills. Here's how to lower your costsActor Chadwick Boseman died without a will. Why you should have a planThe big lesson Suze Orman learned from her recent health scare

For $179, AncestryHealth offers testing for genetic risks and says it can detect 80% or more of known DNA differences linked to certain cancers.

"AncestryHealth includes laboratory tests developed and performed by an independent CLIA-certified laboratory partner, and with oversight from an independent clinician network of board-certified physicians and genetic counselors," its website states.

Meanwhile, 23andMe's Health + Ancestry service includes testing for selected variants of BRCA1 and BRCA2.

"23andMe standards for accuracy are incredibly high," the company said in a statement. "Detailed analytical testing through the FDA review process showed that our Genetic Health Risk and Carrier Status reports meet accuracy thresholds of 99 percent or higher."

If you are found to have a so-called "cancer-gene," you generally will start undergoing annual cancer screenings. You may also opt for preventive, or prophylactic, surgery typically a mastectomy or hysterectomy.

The costs and amount of insurance coverage if you have any vary widely.

Heather Horton, 35, and her mother, 63-year-old Sue Williams, have had two vastly different experiences.

Heather Horton, L, and her mother, Sue Williams both have a gene mutation that is associated with a higher risk of several cancers, including colon.

Source: Sue Williams

The pair, who live in Portland, Oregon, both have the MLH1 mutation, another gene that falls under Lynch Syndrome.

Williams found out at the age of 54, after her brother was diagnosed with colon cancer in his 40s. She's had no issue with her coverage. She had a preventative hysterectomy and now undergoes regular colonoscopies and endoscopies, which cost her $20 after insurance. She pays $812 a month for her policy.

Horton, on the other hand, has become an expert at reading medical bills and understanding coding after spending a lot of time challenging charges.

Diagnosed at 28 years old, Horton gets the same screenings as her mom, plus ultrasounds, a blood test and an endometrial biopsy to monitor her uterus and ovaries. Over the years, her annual screening costs have run from about $800 to $2,500, with around $1,500 being the norm. Her monthly premium is about $520 for a family plan.

"One of the biggest challenges is [that] it's hard to really track or budget for, because I can't ever really estimate what the expenses are going to be," Horton said.

Health insurers aren't required to cover cancer screenings, beyond what is mandated by the ACA, which is focused on the "average risk" population. That leads many to struggle to get coverage for earlier, more intensive screenings and risk-reducing surgeries, according to FORCE.

While insurance typically covers the surveillance, those who have high-deductible plans may still wind up with a hefty bill, said FORCE's Schlager.

"We are testing people but not empowering them with easy access, necessarily, to the follow-up care," she said.

Medicare doesn't cover preventive care, unless authorized by Congress. Right now, those over 50 years old can get screening colonoscopies covered and those over 40 can get screening mammograms as well as a baseline between the ages of 35-39. However, anyone younger on Medicare, such as those with disabilities, won't be covered.

Medicare also doesn't cover breast MRIs, which doctors recommend for those with a high breast cancer risk, as well as preventive surgeries, Schlager said.

Our whole health system is focused on treatment. If we were to flip that and focus on prevention, we would probably save the system a lot of money long-term.

Lisa Schlager

vice president of public policy at FORCE

She's currently working on legislation with Sen. Lisa Murkowski, R-Alaska, and Rep. Debbie Wasserman Schultz, D-Florida, to amend the Medicare statute to broaden the preventive cancer screenings.

Medicaid coverage for screenings is more difficult to track, since it varies by state. All but three state programs cover BRCA testing and most cover testing for Lynch Syndrome. Less than a handful cover multigene panel testing, Schlager said. She recommends checking with your state's Medicaid office to find out what's available.

"Our whole health system is focused on treatment," Schlager said.

"If we were to flip that and focus on prevention, we would probably save the system a lot of money long-term. But we are just not there yet."

While there may be costs with cancer screenings, it is better than the alternative: not catching cancer early and paying for costly treatments.

"It is really managing your destiny as far as your health," said Susan Dallas, executive director of Lynch Syndrome International.

Her father passed away from pancreatic cancer when she was four years old. At 43, Dallas was diagnosed with colon cancer, and subsequently, Lynch Syndrome, which includes genes MLHL, MSH2, MSH6, PMS2, and EPCAM.

"If you don't know what you are dealing with, you can't possibly know what your potential cost could be down the road," Dallas said.

"It could save you thousands and thousands of dollars, not to mention the heartache, stress and loss of income because you end up with cancer."

In fact, a new report from the American Cancer Society Cancer Action Network titled "The Costs of Cancer" found that U.S. cancer patients spent $5.6 billion in out-of-pocket costs for cancer treatment in 2018. Those with ACA-compliant coverage paid between $5,000 out-of-pocket in a large employer plan to over $12,000 in an individual marketplace plan. Short-term limited duration plan patients paid $52,000.

Despite the frustrations she has encountered, Horton doesn't regret getting tested.

"Knowledge is power. We do have some of this within our control to stay on top of it," she said.

"There is some comfort in that, than just kind of waiting for some symptom to appear."

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Genetic testing can assess your risk of getting cancer. Here are the costs involved - CNBC

The historic Silk Road is responsible for one of the world's most popular fruits: the domesticated apple.

In a new study tied to the Silk Road, researchers have found genetic insights that could help plant breeders improve the crop's flavor, texture and resistance to stress and disease.

"It's amazing how well this research aids us. It's like getting a 23andMe DNA test done on your family ancestry: so much information," said Susan Brown of Cornell University, one of the nation's best-known apple breeders.

Zhangjun Fei, lead researcher on the project, a faculty member at the Boyce Thompson Institute andassociate professor at Cornell, said the discovery of new genomic information can help breeders make better apples.

The research began with an idea: to trace apple varieties' origins in hopes of learning more about their genomes, or genetic material.

According to Fei, the modern apple's two main wild progenitors, or ancestors, were the European crabapple (M. sylvestris) and the central Asian wild apple (M. sieversii). Crabapples were small and crunchy; Asian apples were large and soft.

"Those early wild species weren't so tasty," said Fei.

That's where the Silk Road comes in.

"Silk Road" is a misnomer, a blanket term for the many trade routes that crisscrossed Central Asia and Europe in antiquity, according to Princeton University historian Khodadad Rezakhani.

Historians say travelers would often snack along the Silk Road, picking a crabapple or Asian apple in one spot, eating it and tossing its core often miles away. The seeds grew into new trees, which naturally cross-bred. Cross-breeding continued, creating thousands of varieties.

As apples became a major commodity, breeders developed more cultivars.

But hybridizations with wild species have made the apple genome complex and difficult to study.

Fei, Gan-Yuan Zhong, a USDA Agricultural Research Service scientist, and a large team of multidisciplinary researchers realized the apple's unique domestication history could lead to untapped sources of genes that could be used for crop improvement.

The team compared three genomes: of the modern Gala apple, the European crabapple and the central Asian wild apple, which together account for about 90% of a domesticated apple's genome.

"We learned so much," said Fei.

The researchers identified which progenitor species and which genome regions contributed which traits. For example, they found the gene giving an apple its crunchy texture is located near the gene that makes it susceptible to blue mold.

"That provides us and breeders with an even deeper understanding of the genetic diversity underlying a particular trait," said Zhong in a statement.

Brown, the apple breeder, said linked traits like this are challenging, because the crunchiness and blue mold susceptibility genes are so close together on the chromosome. But knowing which is which, she said, will help her to use molecular markers for targeted breeding.

Brown said the research will be "incredibly useful" to the nation's top apple breeders, Kate Evans of Washington State University and Jim Luby of the University of Minnesota, along with private breeders such as the Midwest Apple Improvement Association.

"You know the Honeycrisp? That's my favorite. Think of all the new apples we might have," said Fei.

See the article here:
Silk Road reveals genetic insights that may revolutionize apple breeding - Capital Press

Scientists have pinpointed the location of all the genes in the genetic code of sheep, a move that will provide more accurate research into traits such as health and resilience.

The new discovery will help improve the existing high-quality map of sheep DNA, with one of the highest resolutions in a livestock species to date.

Outcomes from the research, which included analysis of multiple tissues from all organs, can be used to investigate how specific regions of the genetic makeup of sheep affect their physical and physiological characteristics.

The map was built from a single sheep from the Rambouillet breed, which are known for their high quality fleece and for being able to live in harsh conditions.

UK scientists from the Roslin Institute and international partners identified points in the genome where the process of switching on genes starts known as transcription start sites.

They used a technique called Cap Analysis Gene Expression (CAGE) sequencing to identify the start sites of the vast majority of genes in the Rambouillet reference genome, which was generated by scientists from Baylor College of Medicine in the US, and is a database that is representative of all the genes and genetic code for sheep.

Dr Emily Clark, of the Roslin Institute said: "Sheep are hugely important farmed animals, providing a key global source of meat and fibre.

"The high-resolution annotation of transcription start sites in the genome that we have generated will give scientists a better map of the genome upon which to base their studies."

Dr Brenda Murdoch, of the University of Idaho's Ovine Functional Annotation of Animal Genomes (FAANG) added: "This research identifies the location that control economically important traits like health, meat and wool quality in sheep.

"It is this type of information that is essential to help breeding programmes select and predict traits to improve the sustainability and productivity of this globally important species."

The study, led by Roslin scientists within the Centre for Tropical Livestock Genetics and Health, was conducted as part of the Ovine FAANG project.

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Sheep genetic code insights pave way for improved traits - FarmingUK

Background:Emotional distress associated with genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is reported to interfere with adherence to treatment and prophylactic measures and compromise quality of life.

Objectives:To determine levels of anxiety, depression, and quality of life in patients tested for pathogenic BRCA1/2 mutations and identify risk factors for the development of adverse psycho-emotional effects.

Methods:Cross-sectional observational trial involving 178 breast or ovarian cancer patients from a referral cancer hospital in Northeastern Brazil. Information was collected with the Hospital Anxiety and Depression Scale (HADS) and the World Health Organization (WHO) Quality of Life (QoL) questionnaire (WHOQOL-BREF).

Results:Patients suspected of HBOC had higher levels of anxiety than depression. The presence of (probably) pathogenic BRCA1/2 mutations did not affect levels of anxiety and depression. High schooling, history of psychiatric disease, and use of psychotropic drugs were directly associated with high anxiety. High schooling was too inversely associated with QoL as such a breast tumor. Anxiety and depression were directly correlated and both reduced significantly QoL.

Conclusion:Our results highlight the importance of psychological support and screening of risk factors for anxiety and depression and low QoL in HBOC patients at the time of testing.

Keywords:Anxiety; Breast cancer; Depression; Hereditary breast and ovarian carcinoma syndrome; Quality of life.

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How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial - DocWire...

SAN DIEGO, Nov. 05, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced the publication of a study led by scientists and clinicians from the Institute for Human Genetics and the Benioff Childrens Hospital at the University of California, San Francisco (UCSF) that evaluated the ability of Bionanos optical genome mapping technology and another genome analysis method to diagnose children with genetic conditions who previously went undiagnosed by the standard of care methods alone. Of the 50 children in the study, the optical genome mapping results were sufficient to definitively diagnose 6 patients (or 12%) and, for another 10 patients (or 20%), the Bionano data revealed candidate pathogenic variants. Upon further analysis, it is expected that an additional 3 patients could be diagnosed with the Bionano data, bringing the total of definitively diagnosed patients to 9 (or 18%).

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented, Increasing the number of patients who receive a definitive molecular diagnosis is the driving force behind much of the development of new diagnostic technologies. Every major change in medical guidelines connected to introducing novel methods has been driven by the ability of new methods to diagnose more patients than the previously existing standard of care. This study by the UCSF team shows that Bionanos optical genome mapping can potentially bring another such leap to the clinic by diagnosing many more patients than what existing chromosomal microarray (CMA) and whole exome sequencing (WES) can. Several studies released this year have shown that Saphyr can detect all clinically relevant variants identified by karyotyping, microarray and FISH in both leukemias and genetic disease cases. This UCSF study now shows in the largest cohort analyzed to date that Bionanos optical genome mapping diagnoses more patients than the traditional methods. We believe the increase in diagnosis over conventional methods can be a significant factor in Saphyr gaining widespread adoption as a clinical tool for genetic disease diagnosis and next-generation cytogenomics.

As described in the publication, the UCSF team performed full genome analysis by combining optical genome mapping with Bionano technology and linked-read sequencing on 50 undiagnosed patients with a variety of rare genetic diseases and their parents to determine if this full genome analysis method could help solve cases that had not been diagnosed with previous testing. Of the 50 cases, 42 were previously analyzed by CMA, the first tier medical test for genetic disease cases, and 23 had previously been analyzed with commercial trio whole exome sequencing, and no pathogenic or likely pathogenic variants were identified by these methods.

Bionanos optical genome mapping technology identified a number of pathogenic variants unidentified by CMA and undetectable by WES, including duplications and deletions that were too small to be identified by CMA, or occurred in regions of the genome not typically covered by CMA or WES. Of the additional 7 patients with variations considered to be candidates for pathogenic variants, the findings included deletions, duplications, and inversions. Before concluding that these variants are sufficient to diagnose the patients, further analysis is required since these variants had not previously been reported in patients with similar disease.

The publication is available at: https://www.medrxiv.org/content/10.1101/2020.10.22.20216531v1A recording of the webinar is available at: https://bionanogenomics.com/webinars/optical-mapping-in-rare-genetic-disease-diagnosis/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the contribution of Bionanos technology to the diagnosis of more genetic disease patients when compared to traditional standard of care methods; the capabilities of Bionanos technology in comparison to other genome analysis technologies; our expectations regarding the adoption of Saphyr as a clinical tool for genetic disease diagnosis and next-generation cytogenomics; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Largest Study To-Date Focused on Undiagnosed Genetic Disease Patients Reveals That Bionano's Optical Genome Mapping Technology Can Diagnose...

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Rare Disease Genetic Testing market.

Trusted Business Insights presents an updated and Latest Study on Rare Disease Genetic Testing Market 2020-2029. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Rare Disease Genetic Testing market during the forecast period (2020-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Report Overview: Rare Disease Genetic Testing Market

The global rare disease genetic testing market size was valued at USD 690.1 million in 2020 and is projected to register a Compound Annual Growth Rate (CAGR) of 8.8% from 2021 to 2027. Misdiagnosis can result in interventions that could later be considered inappropriate for the underlying disorder. Thus, the need for an accurate and timely diagnosis for rare conditions drives the demand for genetic testing. Currently, the lack of awareness pertaining to these conditions is one of the primary challenges for the market. Thus, several efforts are being undertaken to help raise awareness about various aspects of rare and ultra-rare diseases, such as the challenges pertaining to diagnosis and clinical implementation of available diagnostic approaches.

Companies like Shire Plc are engaged in supporting domestic diagnostic testing for rare disorders in certain countries and offer learning programs for healthcare experts on genetic testing. Every country has developed its registry for rare diseases that acts as a focal point of information on these conditions. Patient registries and databases play a integral role in clinical research in the field of rare diseases and help in improving healthcare planning and patient care.

A rise in the number of available registries is one of the major driving factors of the market as it enables pool data to achieve a sufficient sample size for epidemiological and/or clinical research. Furthermore, technological advancements in data collection and interpretation for clinical practice has driven the market. Companies are making efforts to ensure efficient data collection from various ethnicities, which is expected to aid in the diagnosis of thousands of patients with the same condition.

In addition, companies, such as Centogene, combine genetic testing with metabolomics and proteomics to make their data analysis process as accurate as possible. The multi-omics approach helps better understand the impact of a given mutation on the protein as well as at the metabolite level. The company has also introduced a system to simplify the sample collection process, thereby driving the adoption of genetic tests for rare disease diagnosis.

Disease Type Insights: Rare Disease Genetic Testing Market

Neurological disorders segment accounted for the largest share of 12.9% in 2019. A substantial number of commercially-approved genetic tests for neurologic conditions coupled with a high prevalence of neurological diseases has accelerated the revenue growth in this segment. Tests offered by companies are recommended by several medical institutes, such as the American Academy of Neurology, American College of Medical Genetics, and Child Neurology Society.

Furthermore, the advent of high-throughput techniques, such as exome sequencing and whole-genome sequencing, has offered lucrative opportunities for companies offering tests for diseases, such as X-ALD. Exome sequencing and whole-genome sequencing have helped in addressing complicated cases of X-ALD that present an atypical disease course.

Moreover, immunologic disorders, such as Multiple Sclerosis (MS), are among the most prevalent rare diseases. The genetic profile of MS is one of the key focus areas among researchers in this field. This is primarily to obtain relevant insights pertaining to the causes and underlying physiology of diseases, resulting in a significant share of this segment.

End-use Insights: Rare Disease Genetic Testing Market

Research laboratories & CROs captured the maximum share of 46.9% of the market in 2019. This is primarily because in a substantial number of cases, blood samples collected from patients are sent to a laboratory for testing. Laboratories offer testing based on various specialties, including molecular, chromosomal, and biochemical genetic tests. For instance, ARUP Laboratories offers testing in molecular genetics, cytogenetics, genomic microarray, and biochemical genetics.

Laboratories also offer genetic counseling services that further accelerate the uptake of services among patients. Moreover, molecular genetic testing-based laboratory testing is rapidly increasing worldwide. Genetic tests are conducted by multiple laboratories, including those that are accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties. These companies are involved in expanding their test portfolio by undertaking various strategic initiatives.

For instance, in January 2020, Quest Diagnostics acquired Blueprint Genetics to enhance its expertise in genetic disorders and rare diseases. Furthermore, in June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts. Such initiatives depict the growing interest of diagnostic centers in genetic testing of rare diseases, which is likely to boost segment growth.

Technology Insights: Rare Disease Genetic Testing Market

Next Generation Sequencing (NGS) accounted for the largest share of 36.6% in 2019 owing to the high usage of Whole Exome Sequencing (WES). WES is being considered a highly potential method in a case where the genetic cause of disease is unknown and is difficult to identify. WES is becoming the standard of care for patients with undiagnosed rare diseases. This is attributed to the fact that exons make up around 1.5% of an individuals genome and contain 85% of all known disease-causing mutations.

Moreover, with the declining costs of WES, the cost of genetic testing is also anticipated to reduce significantly, making the test more affordable and accessible. In addition, medical coverage for WES-based genetic tests has favored segment growth. A substantial number of private health insurance agencies cover all or part of the cost of genetic testing, post recommendation by a healthcare professional. As compared to WES, clinical Whole Genome Sequencing (WGS) has lesser demand.

However, with a continuous decrease in cost, adoption of WGS is expected to amplify. For instance, the Rady Childrens Institute for Genomic Medicine offers singleton-rapid WGS and a trio-rapid WGS at a reasonable cost. In February 2020, Dante Labs launched an initiative to offer WGS to patients with rare diseases for USD 299. The service included WGS 30X on Novaseq6000 technology, data interpretation, and personalized therapy on these diseases.

Specialty Insights: Rare Disease Genetic Testing Market

Accounting for more than 40% revenue share, molecular genetic tests led the market in 2019. Rapid technological advancements and expertise in handling & managing high throughput technologies within clinical settings have driven the revenue in this segment. Molecular genetic test methods enable investigating single genes or short lengths of DNA for the detection of mutations or variations leading to genetic disorders.

Apart from rare diseases, the method also covers testing of ultra-rare diseases, which will augment the segment growth in future. Biochemical genetic tests are expected to register the second-fastest CAGR during the forecast period owing to their efficiency to assess the activity and amount of proteins & related abnormalities for the identification of changes in the DNA that can cause a metabolic disorder.

Also, the companies are expanding their test portfolio to capitalize on the potential opportunities present in this segment. In September 2019, Blueprint Genetics collaborated with ARCHIMEDlife to launch high-quality biochemical tests for rare diseases. Such developments are anticipated to boost the revenue share of the segment in the coming years.

Regional Insights: Rare Disease Genetic Testing Market

North America accounted for the largest market share of over 47% in 2019. Factors, such as high incidence of rare disorders, a large number of rare disorders registries, and the presence of substantial numbers of R&D facilities for rare & ultra-rare diseases, and extensive investments in the diagnosis of rare disorders in the region drives the market growth. As per the National Institutes of Health (NIH), around 30 million Americans have been identified with one of 7,000+ known rare diseases. Moreover, the number of patients undergoing disease testing is expected to increase in the coming years, thereby supporting market growth.

Asia Pacific is expected to register the fastest CAGR from 2020 to 2027 due to rising awareness and target population in Asian countries. China is attempting to shift the attention of the healthcare system towards the diagnosis and treatment of rare disorders. The government in the country has included rare disease management as a public health priority in its 2030 roadmap titledHealthy China 2030. Furthermore, in June 2018, the country released its first list of rare disorders to enable the patients to find solutions effectively at their local hospitals.

Key Companies & Market Share Insights: Rare Disease Genetic Testing Market

The development of technologies, such as WES & WGS, has significantly transformed genetic testing space by offering convenient and cost-effective methods that can be conducted for a wide range of conditions across multiple clinical settings. As a result, major diagnostic companies are engaged in expanding their product portfolio that can be used to conduct tests for rare and ultra-rare conditions.

In addition, they have undertaken various initiatives, such as mergers & acquisitions, to expand their offerings and subsequently strengthen their presence in this market. For example, the acquisition of GeneDX by OPKO. The acquisition helped the latter company to expand its business in the market. Similarly, Quest strengthened its presence in the market with the acquisition of Blueprint Genetics. Another important acquisition in the market is Qiagens acquisition by Thermo Fisher.

The companies have signed an agreement in March 2020; however, it is targeted to be completed by the first quarter of 2021, as ThermoFisher Scientific is lining up finances for the USD 11.5 billion deal, with an offering worth $2.2 billion. This deal is expected to impact the life science tools and reagents market significantly. With regard to rare disorder genetic testing, Thermo Fisher Scientific is engaged in research and provides sequencing for the Osteogenesis imperfecta and Vascular Ehlers-Danlos syndrome. Some of the prominent players in the rare disease genetic testing market include:

Key companies Profiled: Rare Disease Genetic Testing Market Report

This report forecasts revenue growth at global, regional, and country levels and provides an analysis of the latest industry trends in each of the sub segments from 2016 to 2027. For the purpose of this study, Trusted Business Insights has segmented the global rare disease genetic testing market report on the basis of disease type, technology, specialty, end use, and region:

Disease Type Outlook (Revenue, USD Million, 2016 2027)

Technology Outlook (Revenue, USD Million, 2016 2027)

Specialty Outlook (Revenue, USD Million, 2016 2027)

End-use Outlook (Revenue, USD Million, 2016 2027)

Looking for more? Check out our repository for all available reports on Rare Disease Genetic Testing in related sectors.

Quick Read Table of Contents of this Report @ Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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Rare Disease Genetic Testing Market 2020 and Forecast 2021-2027 Includes Business Impact Analysis of COVID-19 - Eurowire

Odell Beckham Jr.s time in Cleveland hasnt lived up to expectations. Regardless, hes been one of the biggest NFL stars for most of his career. Hes put in plenty of work to become a great wide receiver, but his lineage gave him tools to succeed, too. Athletic excellence is a generational touchstone in the Beckham family. Both of his parents played sports at a high level, but they werent OBJs only relatives to do so.

A number of videos show Odell Beckham Jr. displaying his athleticism in sports other than football. Here he is playing soccer with more finesse and confidence than some members of the U.S. Mens national team:

In this clip, Beckham swings for the fences:

He can also throw down dunks worthy of a dunk contest:

Beckham can also kick field goals and throw a football well enough to be a backup quarterback. Having these talents plus his elite receiving ability is just Beckham running up the score. His touchdown pass against the Cowboys in his rookie season thrust him into the spotlight. Beckham backed it up by becoming a consistently brilliant outside threat.

In each of his first three seasons, Beckham made the Pro Bowl.The only two years he hasnt accrued over 1,000 receiving yards ended with an injury after four games. And he did it without an elite quarterback at any point. It likely explains why some critics look for any chance to discredit him or place the failures of a team on his shoulders. Its easy to be jealous of a man who is rich, gifted, and handsome.

RELATED: Odell Beckham Jr. Came Extremely Close to Calling It Quits

While the rest of us were gawking at Beckhams incredible dexterity for that catch against the Cowboys, his father didnt think it was a big deal. In most other cases, this would be an example of parents having unfair standards for their kid, the history of the Beckham family makes it more understandable that they would be nonplussed by plays like that. Such feats are not rare in their family.

Odell Beckham Sr. also played college football at LSU, starting at running back for nine of the 28 games he played for the Tigers from 1989 to 1992. His mother, Heather Van Norman, went a step further at the school and became one of the best track and field stars in school history, according to Fanbuzz.

She arrived onto campus in 1989 and was an All-American in all six years of her college career. In addition to that, she won three straight NCAA outdoor titles from 1991 to 1993, two indoor national titles (1991 and 1993) and won both indoor and outdoor SEC titles in 1993 and 1995.

RELATED: Odell Beckham Jr. and Kevin Durant Invested Heavily in the Future of Esports

Van Norman was such a physical specimen that even creating a life couldnt get her off the track. In 1992, she realized she was pregnant with Odell while she was preparing for the Olympic trials. She continued to run every day until she gave birth.

The athletic lineage goes even further, according to the New York Daily News. Odells grandmother, Margaret Sauls Jones, said played basketball, volleyball, ran track, and threw the discus at Dunbar-Meredith High in Temple, Texas.

Even his stepfather, Derek Mills, was a Gold medalist in the 1996 Olympic Games. Mills also ran as part of the United States 4X400 Relay and also appeared in the 1995 World Championship where he was ranked as high as No. 2 in the world the 400 meters. Odell was destined to be a top-level player in whatever sport he chose.

Beckhams career has hit a crossroads in Cleveland. Hes struggled to put up big numbers on a regular basis, but its hard to know how much of his underperformance is down to him, the general mediocrity of Baker Mayfield, and the borderline incompetence of the Browns front office. Beckhams dealt with injuries before, but nothing as serious as the torn ACL he suffered against the Cincinnati Bengals.

Its tough to foresee what his future in the NFL will be. Rumors about him leaving Cleveland have circled him ever since he put on the uniform, and if Mayfield continues to inexplicably play well without his most talented wideout, then there will be louder calls to get rid of him.

Theres also no way to know what kind of player Beckham will be until he gets back on the field. Considering the gap between him and most other athletes, he has much more room for ever than the majority of his peers.

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Odell Beckham Jr. Won the Genetic Lottery With His Athletic Parents - Sportscasting

A study of some of the sickest COVID-19 patients, such as those placed on ventilators, has identified gene variants that put people at greater risk of severe disease.

By Jocelyn KaiserOct. 13, 2020 , 1:25 PM

Sciences COVID-19 reporting is supported by the Pulitzer Center and the Heising-Simons Foundation.

Its one of the pandemics puzzles: Most people infected by SARS-CoV-2 never feel sick, whereas others develop serious symptoms or even end up in an intensive care unit clinging to life. Age and preexisting conditions, such as obesity, account for much of the disparity. But geneticists have raced to see whether a persons DNA also explains why some get hit hard by the coronavirus, and they have uncovered tantalizing leads.

Now, a U.K. group studying more than 2200 COVID-19 patients has pinned down common gene variants that are linked to the most severe cases of the disease, and that point to existing drugs that could be repurposed to help. Its really exciting. Each one provides a potential target for treatment, says genetic epidemiologist Priya Duggal of Johns Hopkins University.

In a standard approach to finding genes that influence a condition, geneticists scan the DNA of large numbers of people for millions of marker sequences, looking for associations between specific markers and cases of the disease. In June, one such genomewide association study in The New England Journal of Medicine (NEJM) found two hits linked to respiratory failure in 1600 Italian and Spanish COVID-19 patients: a marker within the ABO gene, which determines a persons blood type, and a stretch of chromosome 3 that holds a half-dozen genes. Those two links have also emerged in other groups data, including some from the DNA testing company 23andMe.

The new study confirmed the chromosome 3 regions involvement. And because 74% of its patients were so sick that they needed invasive ventilation, it had the statistical strength to reveal other markers, elsewhere in the genome, linked to severe COVID-19. One find is a gene called IFNAR2 that codes for a cell receptor for interferon, a powerful molecular messenger that rallies the immune defenses when a virus invades a cell. A variant of IFNAR2 found in one in four Europeans raised the risk of severe COVID-19 by 30%. Baillie says the IFNAR2 hit is entirely complementary to a finding reported in Science last month: very rare mutations that disable IFNAR2 and seven other interferon genes may explain about 4% of severeCOVID-19 cases. Both studies raise hopes for ongoing trials of interferons as a COVID-19 treatment.

A more surprising hit from the U.K. study points to OAS genes, which code for proteins that activate an enzyme that breaks down viral RNA. A change in one of those genes might impair this activation, allowing the virus to flourish. The U.K. data suggest there is a variant as common and influential on COVID-19 as the interferon genetic risk factor.

Other genes identified by Baillies team could ramp up the inflammatory responses to lung damage triggered by SARS-CoV-2, reactions that can be lethal to some patients. One, DPP9, codes for an enzyme known to be involved in lung disease; another, TYK2, encodes a signaling protein involved in inflammation. Drugs that target those two genes proteins are already in useinhibitors of DPP9s enzyme for diabetes and baricitinib, which blocks TYK2s product, for arthritis. Baricitinib is in early clinical testing for COVID-19, and the new data could push it up the priority list, Baillie says.

The chromosome 3 region still stands out as the most powerful genetic actor: A single copy of the disease-associated variant more than doubles an infected persons odds of developing severe COVID-19. Evolutionary biologists reported last month in Nature that this suspicious region actually came from Neanderthals, through interbreeding with our species tens of thousands of years ago. It is now found in about 16% of Europeans and 50% of South Asians.

But the specific chromosome 3 gene or genes at play remain elusive. By analyzing gene activity data from normal lung tissue of people with and without the variant, the U.K. team homed in on CCR2, a gene that encodes a receptor for cytokine proteins that play a role in inflammation. But other data discussed at last weeks meeting point to SLC6Z20, which codes for a protein that interacts with the main cell receptor used by SARS-CoV-2 to enter cells. I dont think anyone at this point has a clear understanding of what are the underlying genes for the chromosome 3 link, says Andrea Ganna of the University of Helsinki, who co-leads the COVID-19 Host Genetics Initiative.

The U.K. genetics study did not confirm that the ABO variants affect the odds of severe disease. Some studies looking directly at blood type, not genetic markers, have reported that type O blood protects against COVID-19, whereas A blood makes a person more vulnerable. It may be that blood type influences whether a person gets infected, but not how sick they get, says Stanford University geneticist Manuel Rivas. In any case, O blood offers at best modest protection. There are a lot of people with O blood that have died of the disease. It doesnt really help you, says geneticist Andre Franke of the Christian-Albrecht University of Kiel, a coleader of the NEJM study.

Researchers expect to pin down more COVID-19 risk genesalready, after folding in the U.K. data plumbed by Baillies team, the COVID-19 Host Genetics Initiative has found another hit, a gene called FOXP4 implicated in lung cancer. And in a new medRxiv preprint posted last week, the company Ancestry.com reports that a gene previously connected to the effects of the flu may also boost COVID-19 susceptibility only in men, who are more likely to die of the disease than women.

Geneticists have had little luck so far identifying gene variants that explain why COVID-19 has hit Black people in the United States and United Kingdom particularly hard. The chromosome 3 variant is absent in most people of African ancestry. Researchers suspect that socioeconomic factors and preexisting conditions may better explain the increased risks. But several projects, including Baillies, are recruiting more people of non-European backgrounds to bolster their power to find COVID-19 gene links. And in an abstract for an online talk later this month at the American Society of Human Genetics annual meeting, the company Regeneron reports it has found a genome region that may raise the risk of severe disease mainly in people of African ancestry.

Even as more genetic risk factors are identified, their overall effect on infected people will be modest compared with other COVID-19 factors, Duggal says. But studies like the U.K. teams could help reveal the underlying biology of the disease and inspire better treatments. I dont think genetics will lead us out of this. I think genetics may give us new opportunities, Duggal says.

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Found: genes that sway the course of the coronavirus - Science Magazine

Background

Observational studies have identified height as a strong risk factor for atrial fibrillation, but this finding may be limited by residual confounding. We aimed to examine genetic variation in height within the Mendelian randomization (MR) framework to determine whether height has a causal effect on risk of atrial fibrillation.

In summary-level analyses, MR was performed using summary statistics from genome-wide association studies of height (GIANT/UK Biobank; 693,529 individuals) and atrial fibrillation (AFGen; 65,446 cases and 522,744 controls), finding that each 1-SD increase in genetically predicted height increased the odds of atrial fibrillation (odds ratio [OR] 1.34; 95% CI 1.29 to 1.40; p = 5 10-42). This result remained consistent in sensitivity analyses with MR methods that make different assumptions about the presence of pleiotropy, and when accounting for the effects of traditional cardiovascular risk factors on atrial fibrillation. Individual-level phenome-wide association studies of height and a height genetic risk score were performed among 6,567 European-ancestry participants of the Penn Medicine Biobank (median age at enrollment 63 years, interquartile range 55-72; 38% female; recruitment 2008-2015), confirming prior observational associations between height and atrial fibrillation. Individual-level MR confirmed that each 1-SD increase in height increased the odds of atrial fibrillation, including adjustment for clinical and echocardiographic confounders (OR 1.89; 95% CI 1.50 to 2.40; p = 0.007). The main limitations of this study include potential bias from pleiotropic effects of genetic variants, and lack of generalizability of individual-level findings to non-European populations.

In this study, we observed evidence that height is likely a positive causal risk factor for atrial fibrillation. Further study is needed to determine whether risk prediction tools including height or anthropometric risk factors can be used to improve screening and primary prevention of atrial fibrillation, and whether biological pathways involved in height may offer new targets for treatment of atrial fibrillation.

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Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study - DocWire News

This article about the polygenic score was produced in partnership with The Hechinger Report, a nonprofit, independent news organization focused on inequality and innovation in education. This is part 3 of the series Gifted Educations Race Problem.

Many factors boost a child's chance of success in school like having wealthy parents who can afford tutors. But recent research has raised another possibility one that is discomforting to many the idea that scientists might someday be able to spot the genetic markers associated with academic performance.

To do this, researchers are turning to a relatively new genetic approach called the polygenic score, which assesses a persons likelihood for a specific future based on a combination of genetic variables. Its a research technique that some scientists are using to assess obesity or cancer risk, for instance. Now, researchers are exploring this approach in non-medical contexts, like academic or athletic success.

The scientists studying genetic markers in education are trying to untangle how nature and nurture together explain school performance. In principle, genetic screening might enable teachers to tailor their approach to groups of students. Educators might then more effectively instruct kids together in one classroom, rather than separating students into accelerated and low-level courses, which can deprive Black and brown children and children from low-income families of academic opportunities.

But some researchers fear this gene screening work could be misapplied and used to further racist or eugenic thinking, even though race is a social, not a genetic, classification. Theres an ugly history of proponents of eugenics, who believe in reshaping humanity by breeding superior traits and removing inferior traits, justifying their thinking with genetics. And there are debunked racist theories that have endeavored to falsely connect race and intelligence.

For now, the science is almost entirely based on data collected from people with European ancestry, which limits the conclusions that can be drawn from it, so researchers feel that theyve at least temporarily sidestepped the issue.

But that doesnt mean they arent worried about it and about the other ways this research could exacerbate inequities in education. Screening is expensive, for instance, increasing the odds that privileged students will qualify for extra enrichment or support before their less privileged peers.

Indeed, the idea of predicting students academic performance based on their genes comes with such a raft of ethical questions and unknowns that scientists in the field are urging caution. Polygenic scores are a potentially useful new scientific tool. At the same time, there are clear reasons to be concerned, Stanford University social scientist Ben Domingue said. Were going to have the capacity, with a vial of spit, to be able to predict all these different things.

Scientists and ethicists are also concerned about commercializing this work while the research is still evolving. Already, several companies sell reports to consumers that incorporate polygenic scores for health or various physical characteristics despite the fact that the scores are not perfect forecasters of a persons future.

Researchers in the field want to see more critical discussion of how their work could be applied in educational settings. If we dont pay attention now, systems will be created, constructed around us, responding to our genetic difference, said Sophie von Stumm, a psychologist at the University of York, in the United Kingdom, who studies genetics and education. Its high time to have this discussion. Honestly, were late to the party.

Related: College graduation may be partly determined by your genes, genome study of siblings finds

The polygenic score that could help predict academic performance aims to assess genetic markers related to educational attainment. In other words, it combines hundreds of common genetic variants that are linked to the number of years a person stays in school. In 2016, this score could explain about 5 percent of the variation in the level of education completed.

In 2018, researchers studied data from more than a million people across countries and found they could strengthen the polygenic score to explain 11 percent of the variation in educational attainment. That value puts the score on par with factors like a mothers level of education attainment, which explains 15 percent of variation, and household income, which explains about 7 percent.

There are genes that affect educational attainment that is for certain now, said Aysu Okbay, an economist at Vrije Universiteit in the Netherlands who contributed to the 2016 and 2018 studies.

The scores ability to explain variation in years of schooling could improve with more data. Rough estimates indicate about 80 percent of the variation in educational attainment comes from environmental factors the rest is genetic. With enough data, some scientists believe, the polygenic score could get close to explaining 20 percent of the difference in peoples level of education.

If so, the score would be an incredibly powerful single factor for making predictions about an individuals academic future even though the combined environmental variables still eclipse the role of genes. Its really not a puny predictor at this point, Domingue said.

In February, Domingue and his colleagues found that the polygenic score could help identify which groups of high schoolers had been placed into advanced math classes. The score could also point to students most likely to stick with advanced math courses across all four years of high school.

But polygenic scores also come laced with caveats. So many, in fact, that Okbay and her colleagues published a massive list of public FAQs including how the study was designed and whether the research could lead to stigmatization of people with certain genes to help readers interpret their research.

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Paige Harden, a clinical psychologist at the University of Texas at Austin and a co-author on the math study likens the polygenic score to a credit score. Neither the polygenic nor the credit score can really forecast what will happen to a particular person. Instead, they provide a rough sense of how people with that score will, on average, fare. The score is better at gauging a groups overall performance than an individuals performance.

Harden and others acknowledge that its still a mystery how the genetic variants behind the score contribute to how far a person gets in school. We dont know what the mechanisms are, Okbay said. We dont know whether its causal or not.

Some research suggests the genes associated with education are related to the nervous system and the brain, raising the possibility that theyre connected to cognitive functions things like strong memory, creativity and perseverance that serve people well in school.

But the relationship could be nuanced. Domingue pointed out that there could be genetic factors that make a person more likely to be a supportive parent, which, in turn, would correlate to better school performance in their children. Because the child and parent share DNA, the polygenic score could capture gene variants in the child that explain educational performance but actually reflect the parents behavior.

There is also an enormous shortcoming in the datasets used for this research: Virtually all are built with DNA from people of European ancestry. Although there are biobanks in the works in Asia and Africa that could address this omission, for the time being, the scores are essentially only applicable to people of European descent. Youre basically developing a tool thats only useful for one segment of the population, Harden said.

Related: Gifted classes may not help talented students move ahead faster

Given all of these limitations, most scientists believe it would be unlikely, and inappropriate, for educators to use polygenic scores to determine student placement in specific classes or schools. Will someone be mad enough to track or stream on the basis of genetic predispositions? von Stumm said. Fortunately, I think were far from that.

There could be other ways of using this genetic information. Once genetic variants are better understood and enough data is in hand, for example, it might be possible to identify children with a predisposition to learning disabilities and intervene early. In May, von Stumm and her colleagues published a paper exploring whether a toddlers polygenic score for educational attainment could identify children at risk for language or literacy delays later in life. The conclusion: Were not there yet.

Critics caution that there is too much to establish ethically and scientifically before we confront those scenarios. Someday well understand the genetic contribution to educational success or to life success but it will be our grandchildren who understand it. It wont be us, bioethicist Arthur Caplan at NYU Langone Health said.

And even if we understood this information, its not clear how to best use the scores in schools. Last year, Stanfords Domingue and two colleagues wrote about a hypothetical case study: What happens when a parent tries to use genetic data, like a polygenic score, to make the case that their child deserves additional classroom support?

I dont know that I have good answers to that, he said. But the scenario hints at another serious concern: inequality. Not everyone will be able to afford genetic screening, even when there are meaningful scores for people across ancestries.

Still, researchers are already using the polygenic score to explore long-standing conundrums like why children with very similar advantages follow different trajectories in life.

We are all subject to a big genetic lottery that corresponds to an environmental lottery, von Stumm said. She added that research into the links between genetics and academic attainment could push people to examine fairness in meritocratic societies, given that some people may carry genetic strengths that give them a slight but significant academic advantage, that, in turn, improves other aspects of their lives.

Measuring a persons genetic advantage (or disadvantage) also allows scientists to control for it in their studies. That is, they can better study factors that society can change, such as spending on special programs, compulsory education and school interventions, without having their results biased by a sample of students who are genetically advantaged or disadvantaged.

And researchers can use the polygenic score to assess whether a school has failed students with high potential or if an intervention helped retain children who were otherwise likely to drop out. In the math paper published in February, Domingue, Harden, and their colleagues found that some schools better supported high school students with low polygenic scores than others, ensuring those kids stayed in school.

Harden hopes to see the science applied in ways that emphasize social justice and provide resources to programs that need them: Thats how I think we should be using the polygenic scores if we use them at all.

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A new way of predicting which kids will succeed in school: Look at their genes - NBC News

Genome-wide association study identifies ABO blood protein

The identification of a gene cluster associated with progression to severe disease in patients with Covid-19 strengthens findings from earlier studies suggesting a prominent role for ABO blood group locus in disease severity.

In the genome-wide association study (GWAS) involving patients hospitalized with Covid-19 in Italy and Spain during the local peak of the pandemic, patients with blood group A had an increased risk for progression to severe disease, while patients with blood group O had a lesser risk for progression.

The strongest signal for severe disease, however, was the rs11385942 insertion-deletion GA or G variant at locus 3p21.31, according to researchers from the Severe Covid-19 GWAS Group.

Blood-group specific analysis showed a higher risk for severe disease among patients with blood group A and a lower risk with blood group O.

The groups findings, published Oct. 14 in the New England Journal of Medicine, were originally reported online in June.

In a newly published commentary, researcher Arthur Kaser, MD, of the University of Cambridge Institute of Therapeutic Immunology and Infectious Disease wrote that the genome-wide association study represents a major leap toward disentangling the molecular mechanisms that cause severe Covid-19.

Kaser was not involved with the study.

This genome association study will set directions for research, he wrote, adding that a focus on the immunologic synapse between T cells and antigen-presenting cells appears to be warranted in the search for therapies to address the hyperinflammatory state known as cytokine storm that occurs in some patients with severe Covid-19.

Researchers from the Severe Covid-19 GWAS Group pragmatically compared data from patients hospitalized with severe Covid-19 (defined as respiratory failure), with data from contemporarily recruited blood donors with mostly unknown SARS-CoV-2 status and from historically healthy controls from the same region.

Associations were identified between the risk of developing severe Covid-19 and a multigene locus at 3p21.31 and the ABO blood group locus at 9q34.2.

No association signal was shown for the human leukocyte antigen (HLA) region, which is a regulator of infection immunity and has been suggested as a potential driver of Covid-19 severity.

At locus 3p21.31, the association signal spanned 6 genes: SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6 and XCR1.

The association signal at locus 9q34.2 coincided with the ABO blood group locus; in this cohort, a blood-groupspecific analysis showed a higher risk in blood group A than in other blood groups (odds ratio, 1.45; 95% CI, 1.20-1.75; P=1.48104) and a protective effect in blood group O as compared with other blood groups (odds ratio, 0.65; 95% CI, 0.53-0.79; P=1.06105), wrote Tom H. Karlsen of the University of Oslo, and colleagues from the Severe Covid-19 GWAS Group.

In his editorial, Kaser noted that among the 6 candidate genes at 3p21.31, LZTFL1 might be the most compelling, with the rs11385942 variant and all other fine-mapped association signals that exceeded genome-wide significance located within it.

LZTFL1 is widely expressed and encodes a protein involved in protein trafficking to primary cilia, which are microtubule-based subcellular organelles acting as antennas for extracellular signals, he wrote. In T lymphocytes, LZTFL1 participates in the immunologic synapse with antigen-presenting cells, such as dendritic cells (these cells prime T-lymphocyte responses).

Kaser noted that of the other 5 candidate genes, 4 (CCR9, FYCO1, CXCR6 and XCR1) have roles in T-cell and dendritic-cell function, while SLC6A20 is a transporter with intestinal expression regulated by the SARS-CoV-2 receptor angiotensin-converting enzyme 2 (ACE2).

Earlier research has shown the Covid-19 hyperinflammatory response to resemble secondary hemophagocytic lymphohistiocytosis (HLH), which is a rare and often fatal hyperinflammatory response triggered by autoimmune disorders, certain cancers, and infections.

Kaser wrote that while secondary HLH remains poorly understood, Mendelian-inherited primary HLH points toward CD8+ T lymphocytes, natural killer cells and dendritic cells triggering a cytokine storm involving macrophages.

Other shared features between secondary HLH and severe Covid-19 are cytopenia, hyperferritinemia, disseminated intravascular coagulation, acute respiratory distress syndrome, multiple organ dysfunction, excessive expansion of T lymphocytes, and bone marrow histiocytic hyperplasia with hemophagocytosis with aggregates of interstitial CD8+ lymphocytes, he noted.

The Severe Covid-19 GWAS Group concluded that further exploration of the (study) findings both as to their usefulness in clinical risk profiling of patients with Covid-19 and toward a mechanistic understanding of the underlying pathophysiology, is warranted.

In his commentary, Kaser concluded that the clinical success of treating Covid-19 patients on mechanical ventilation with the corticosteroid dexamethasone provides strong evidence that death may be caused by a late hyperinflammatory phase.

A therapeutic agent that converts severe Covid-19 into a manageable, nonfatal infection would render this pandemic a lesser concern, he wrote.

Because it is impossible to predict mechanisms straight from genomic coordinates, experimental testing of the biology of implicated genetic risk pathways is a route, albeit a potentially challenging one, toward that goal.

Salynn Boyles, Contributing Writer, BreakingMED

Karlsen reported grants from Stein Erik Hagen (via Canica A/S) during the conduct of the study; personal fees from Gilead Sciences, personal fees from Novartis, personal fees from Engitix, and personal fees from Intercept outside the submitted work.

Kaser had no disclosures.

Cat ID: 497

Topic ID: 495,497,282,497,125,190,926,192,927,151,59,928,925,934

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Genetic Variants Linked to Severe Covid-19 - Physician's Weekly