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When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

When the UK Life Sciences Champion Sir John Bell recently highlighted the need to create new industries within life sciences, Carina Healy immediately saw the potential for Scotland.

Sir John, speaking at the Medicines and Healthcare Products Regulatory Agency, identified genomics, digital health and early diagnosis as three areas where the UK could develop new industries and remain a world leader in life sciences.

Healy, a partner and life sciences specialist with international legal firm CMS, says: These areas play into what we do well in Scotland and present very big opportunities. Healy goes on to explain these new industries and the potential they hold for Scotland.

Genomics using genotyping to inform how patients are treated is closely linked to precision or stratified medicine, where Scotland is already excelling.

Precision medicine allows doctors to tailor treatments to each patients specific needs, which can save lives, avoid unpleasant side-effects caused by unsuitable treatments and save the NHS money.

Scotland has great expertise in this area, with world-class academic research and cutting-edge companies developing new treatments to benefit the NHS. This is backed by innovative initiatives such as the Stratified Medicine Scotland Innovation Centre based at the Queen Elizabeth University Hospital (QEUH) in Glasgow, which brings together specialists from across academia, industry and the NHS.

One challenge facing this new industry is how to use the wealth of genetic data now available to inform medical treatment. Although genetic testing is getting increasingly more affordable, further research is needed to link that genetic data to specific diseases and treatment options.

As Healy explains: The technology is there, but it doesnt tell you much yet. However, in areas like breast cancer, the use of the BRCA and HER-2 biomarkers is well-established and gives a clear indication of whether a certain class of patient is at risk or will respond to a specific drug like Herceptin.

Healy says that, in the hospital of the future, an individuals genetic profile is likely to be available in the same way as access to, for example, an individuals blood type. She says: Were still quite far away, but weve decoded the genome and can do it cost-effectively. With further research we will be able to know how to make best use of this data to deliver more effective health care for individual patients.

A UK government science and innovation audit of precision medicine in Scotland this year, led by the University of Glasgow, highlighted the significant assets Scotland has in this field and their potential. It suggested the effective use of electronic health records could drive collaboration and help turn academic research and innovation into better clinical practice.

Healy says the universitys bid for a Strength in Places grant to create a Living Laboratory for precision medicine at QEUH is an excellent example of how Scotland can bridge the gap between genomics research and patient benefit.

Digital health, which uses software, mobile apps and digital technology for health purposes, is an area where Healy thinks Scotland has work to do but has all the key skills in place to make real progress.

We have real strength in informatics, data science and AI in our academic research institutions, she says. Although we need to integrate those sectors better with life sciences and healthcare. The potential is there to build real capacity and deliver tangible patient benefits.

In terms of digital health, this means making healthcare more efficient through use of digital technology, and improving the patient-facing offering.

Scotland has great assets in the IT sector generally, from Silicon Glen to the burgeoning technology scene in Edinburgh. The capital is set to receive further investment in technology infrastructure as part of the 1.3 billion Edinburgh City Region Deal, which will focus on data-driven innovation and help boost Scotlands existing capabilities.

The key to realising Scotlands potential in the new digital health industry will be in linking the countrys digital expertise with its life sciences expertise to create new solutions. Work to link Scotlands technology and life sciences industries has already begun. Exscientia, a company founded in Dundee, has been at the forefront of using digital technology to improve the drug discovery process, resulting in several collaborations this year with big-name drugs companies.

Further collaboration between the two industries will be supported by Glasgows Industrial Centre for Artificial Intelligence Research in Digital Diagnostics iCAIRD which involves 15 partners from across academia, industry and the NHS.

Healy stresses that although collaboration between private companies and the NHS has huge potential benefits, these collaborations must be structured correctly. It is especially important to address ethical and legal issues in accessing and managing patients data.

The collaboration between Googles DeepMind and Londons Royal Free Hospital, which involved the transfer of personal data of 1.6 million patients, was an example of a collaboration that was not structured correctly and was found to be in breach of data protection laws. Healy says: This erodes public trust in these types of initiatives, despite the very obvious benefits in healthcare treatment that can be generated.

Despite this setback, DeepMinds Streams app is now in use at the Royal Free Hospital and has been shown to enable consultants to treat acute kidney injury faster, potentially saving the NHS on average 2,000 per patient and saving consultants up to two hours per day.

The great advantage for Scotland is that we have one NHS. We can access data sources more easily and we can pool it more effectively, says Healy. However, practices can vary across different hospitals and trusts, and clear central guidance would be helpful to ensure data is used both ethically and effectively.

There are also issues around data quality as it is, of course, collected for clinical purposes, not for research or for training artificial intelligence systems.

The ultimate goal is to pool data for patient benefit, and to structure collaborations between private companies and the NHS carefully so personal data is managed appropriately.

There are also potential societal and political issues around ensuring all patients can benefit from digital health initiatives, for example in areas like GP surgery triage. Systems such as Babylon and DrDoctor allow patients remote access to GP services, but often benefit specific groups rather than the whole population.

Younger, more IT-literate patients who have a specific issue but are generally healthier tend to use systems like this, while older, less IT-savvy patients with chronic conditions still go to GP surgeries, says Healy. So GP surgeries are left with patients who need more care and time, but the funding per patient is the same. The digital health gap between different generations will close over time, but it is still quite wide now.

Overall, Healy notes, the message is that digital health offers huge opportunities in Scotland:

We need to encourage more health tech businesses to work with the NHS in Scotland and get more entrepreneurs looking at this area. There are big opportunities for new entrants.

In the third new life sciences industry, early diagnostics, Healy also sees a huge area of unmet need and opportunity in Scotland. She cites image recognition AI, where, for example, training an artificial intelligence system using large numbers of CT scans can mean tumours are spotted more quickly and accurately than using a surgeons eye, leading to earlier diagnosis, which in turn means more successful treatment for patients and potential savings for the NHS.

Scottish-based companies, including Canon Medical Research Europe, are exploring how technology such as AI can help with early diagnosis. Canons research, supported by the Scottish Funding Council, is looking for innovative ways to diagnose and measure mesothelioma tumours, which are particularly difficult to measure and treat.

Collaborations between Scottish companies and the NHS which capitalise on the organisations pool of health data will be a big boost to research and development of early diagnostics, particularly with the help of AI.

Although Healy recognises the challenges in collaborating on such projects, she is positive about the future: It can still be hard to break down NHS silos and work through its contracting processes. However, Scotlands strength is underpinned by excellent collaboration between the NHS, academia and industry. You can see it working in projects like iCAIRD and the QEUHs Clinical Innovation Zone.

Healy sees this as a good reason for Scotland to be positive about its life sciences industry and its opportunity to make the most of Sir Johns three new industries genomics, digital health and early diagnostics. It all comes back to that strong, deep collaboration. We need to build on that and keep selling Scotlands strengths to a wider global marketplace.

Our academic base is really strong, we have one NHS with very good electronic health records and the ability of industry to collaborate across different academic and NHS bodies to deliver positive patient outcomes.

Find out more at CMS.

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CMS on how life sciences advancements are improving patient care - The Scotsman

A blood test that measures the amount of cell-free DNA (cfDNA) in the bloodstreamcalled a liquid biopsycorrelates with how patients will progress after they are diagnosed with glioblastoma (GBM), the deadliest and most common primary brain tumor in adults

In a new study, researchers from theAbramson Cancer Center are the first to show that patients with a higher concentration of cfDNAcirculating DNA that cancer and other cells shed into the bloodhave a shorter progression-free survival than patients with less cfDNA, and that cfDNA spikes in patients either at the time of or just before their disease progresses. The team also compared genetic sequencing of solid tissue biopsies in GBM side-by-side with the liquid biopsies and found that while both biopsies detected genetic mutations in more than half of patients, none of those mutations overlapped, meaning liquid biopsy may provide complementary information about the molecular or genetic makeup of each tumor.Clinical Cancer Research, a journal of the American Association for Cancer Research,published the findings.

Doctors have begun using liquid biopsies more frequently to monitor certain cancersparticularly lung cancerin recent years as research has shown their effectiveness in other disease sites. But until now, there has been little focus on the clinical utility of liquid biopsy in brain tumors, said the studys senior authorErica L. Carpenter, director of the Liquid Biopsy Laboratory and a research assistant professor of medicine.

The findings may eventually prove impactful for GBM patients. The disease is particularly aggressive, and while most estimates show there are around 11,000 new cases each year, the five-year survival rate is between 5and 10 percent.

Read more at Penn Medicine News.

Excerpt from:
Blood test can predict prognosis in deadly brain cancer - Penn: Office of University Communications

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

"We just didn't know whose heart was going to fail first," she says. "There was no rhyme or reason who was coming to the intensive care unit over and over again, versus the ones that were doing well."

Now, just a few years later, Sweeney has at her fingertips the results of the complete genome sequence of her sickest patients in a couple of days.

That's because of remarkable strides in the speed at which genomes can be sequenced and analyzed. Doctors who treat newborns in the intensive care unit are turning to this technology to help them diagnose their difficult cases.

Sweeney sees her tiny patients in the neonatal intensive care unit of Rady Children's Hospital in San Diego. Doctors there can figure out what's wrong with about two-thirds of these newborns without a pricey DNA test. The rest have been medical mysteries.

"We had patients that were lying here in the hospital for six or seven months, not doing very well," she says. "The physicians would refer them for rapid genome sequencing and would diagnose them with something we didn't even think of!"

Rady's Institute for Genomic Medicine, which has been pioneering this technology, has now sequenced the genomes of more than 1,000 newborns.

In a building across the street from the hospital, three $1 million sequencing machines form the core of the operation. Technicians tending to the NovaSeq 6000s can put DNA from babies (and often their parents) into the machine in the late afternoon and have a complete genome sequence back by 11 a.m. or noon the next day, says clinical lab scientist Luca Van der Kraan.

That fact is worth repeating: An entire genome is decoded in about 16 hours.

Kasia Ellsworth is one of the experts waiting in a nearby office to analyze the information. That task has shrunk from months to typically just four hours, thanks to increasingly sophisticated software.

Ellsworth inputs the baby's symptoms into the software, which then spits out a long list of genetic variants that might be related to the illness. She scrolls down the screen.

"I'm looking through a list of those variants and then basically deciding whether something may be truly contributing to the disease or not," she says.

About 40% of the time, a gene stands out, giving doctors a tentative diagnosis. Follow-up tests are often requested, and those can take several days. But in the meantime, doctors can sometimes act on the information they have in hand.

When she or a colleague makes a diagnosis, "You always feel very relieved, very happy and excited," she says. "But at the same time you kind of need to put it in perspective. What does it mean for the family, for the patient, for the clinician as well?"

Often it's a sense of relief. And for a minority of cases, it can affect the baby's treatment.

"We now are at the point where I think the evidence is overwhelming that a rapid genome sequence can save a child's life," says Dr. Stephen Kingsmore, the institute's director and the driving force behind this revolution.

By his reckoning, the results change the way doctors manage these cases about 40% of the time.

Treatments are available for only a small share of these rare diseases. In other cases, the information can help parents and doctors understand what's wrong with their baby even if there is no treatment or learn whether death is inevitable. "And there it's a very different conversation," Kingsmore says. "We help guide parents through picking an appropriate point at which to say enough is enough" and to end futile treatments.

Of course, Kingsmore highlights the happier outcomes. One example is a bouncy girl named Sebastiana, now approaching her third birthday.

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age.

He showed off her case recently in front of the Global Genes conference, a meeting of families with rare genetic conditions.

"She was critically ill in our intensive care unit," he tells the audience, "and in a couple of days we gave the doctors the answer. It's Ohtahara syndrome. It comes with this specific therapy. And she hasn't had a seizure in 2 1/2 years. She doesn't take any medication."

The audience applauds enthusiastically at an outcome that sounds miraculous. But when you meet Sebastiana and her mother, Dolores Sebastian, a more complicated story emerges.

Ohtahara syndrome isn't actually what made Sebastiana ill it's a term doctors use to describe newborn seizures. Those are actually a symptom of deeper brain issues. That was apparent the day she was born.

"She was acting weird and screaming and crying and turning purple and we weren't sure why," her mother says.

The hospital where Sebastiana was born rushed her to the neonatal intensive care unit, across town at Rady. She was having frequent seizures. The following days were a nightmare for Sebastian and her husband.

"I can't even describe it," she says. "I always keep on saying that at that moment I was kind of like dead, but I was walking."

The hospital ran a battery of tests to look for severe brain damage. They couldn't get to the bottom of it.

"They came in and offered us the genomic testing," Sebastian said. "They never told us how quick it would be."

She was surprised when the results were back in four days. The doctor told her they had identified a gene variant that can trigger seizures as well as do other harm to the brain.

"He said this is how we're going to go ahead and change her medications now and treat her," she says. And that made a "huge difference, [an] amazing difference."

Sebastiana was already on a medication that was helping control her seizures, but they sedated her to the extent that she needed a feeding tube. On the new medication, carbamazepine, she was alert and able to eat, and her seizures were still under control. Sebastian says her daughter is still taking that drug.

Controlling her seizures isn't a cure. Children who have this genetic variant, in a gene called KCNQ2, can have a range of symptoms from benign to debilitating. Sebastiana falls somewhere in between. For example, she has only a few words in her vocabulary as she approaches the age of 3.

"She took her first steps when she was 2 years old, so she's delayed in some things," Sebastian says, "but she's catching up very quickly. She has [physical therapy]; she's going to start speech therapy. She gets a lot of help but everything's working."

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel.

KCNQ2 variants are the most common genetic factor in epilepsy, causing about a third of all gene-linked cases and about 5% of all epilepsies. Sebastiana's case could have been diagnosed with a less expensive test. For example, Invitae geneticist Dr. Ed Esplin says his company offers a genetic screen for epilepsy that has a $1,500 list price and a two-week turnaround.

Rady's whole-genome test costs $10,000, Kingsmore says. But it casts a wider net, so it might provide useful information if a baby's seizures are caused by something other than epilepsy.

And Kingsmore says his test costs about as much as a single day in the NICU. "In some babies we avoid them being in the intensive care unit literally for months," he says.

Kingsmore and colleagues have published some evidence that their approach is cost-effective, based on an analysis of 42 cases.

Even so, most insurance companies and state Medicaid programs are still balking at the cost. Kingsmore says private donors are helping support this effort at Rady, which sequences about 10% of the babies in the NICU, and at more than a dozen others scattered from Honolulu to Miami. They send their samples to Rady for analysis.

Kingsmore is pushing to expand his network in the next few years, to reach 10,000 babies at several hundred children's hospitals.

Other providers are also starting to offer whole-genome sequencing. But Dr. Isaac Kohane, chair of the department of biomedical informatics at Harvard Medical School, worries that the technology is too unreliable.

Knowledge of genes and disease is evolving rapidly, so these analyses run the risk of either missing a diagnosis or making a mistaken one. Kohane says there's still a lot of dubious information there a typical person has 10 to 40 gene variants that the textbooks incorrectly identify as causing disease.

Kohane is part of a medical network that helps diagnose people with baffling diseases. A study from 2018 found "a third of the patients who actually come to us already had full genome sequences and interpretations," Kohane says. "They were just not correct."

Even so, Kohane sees this use in the NICU as a relatively fruitful use of gene sequencing. "This is one of the few areas where I think the Human Genome Project is really beginning to pay off in health care," he says, "but buyer beware, it's not something ready to be practiced in every hospital." (He supports the work at Rady in fact, he is a science adviser.)

Kingsmore is already looking ahead. "We want to solve the next bottleneck, which is, 'I don't have a great treatment for this baby,' " he says. That's a far greater challenge, and it's especially difficult for a mutation that has altered a baby's development in the womb. Those problems may often not be reversible.

Kingsmore is undeterred. "It's going to be an incredibly exciting time in pediatrics," he says.

You can contact NPR science correspondent Richard Harris at rharris@npr.org.

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Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots - Health News - NPR

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Veracyte, Inc. (Nasdaq: VCYT) today announced new data that advance understanding of the frequency, positive predictive value and co-occurrence of genomic alterations that are targeted by newly available and investigational precision medicine therapies for thyroid cancer. The findings were enabled by Afirma Xpression Atlas analyses, which uses RNA sequencing, of Veracytes extensive biorepository of thyroid nodule fine needle aspiration (FNA) samples from patients undergoing evaluation for thyroid cancer. The data were presented this week during the 89th Annual Meeting of the American Thyroid Association (ATA).

In one study, researchers assessed the frequency of ALK, BRAF, NTRK and RET fusions in nearly 48,000 consecutive patients whose thyroid nodule FNA samples were deemed indeterminate, suspicious for malignancy or malignant (Bethesda III/IV, V and VI categories, respectively) by cytopathology. The researchers found that 425 (0.89 percent) of the FNA samples harbored one of the alterations, with NTRK fusions the most common at 0.38 percent, followed by RET (0.32 percent), BRAF (0.13 percent) and ALK (0.06 percent). Additionally, RNA whole transcriptome sequencing demonstrated differences in the prevalence of these four fusions across Bethesda categories, with Bethesda V being the highest.

NTRK fusion inhibitors have received pan-cancer FDA approval and clinical trials have included selective inhibitors of ALK, BRAF, NTRK and RET, which makes their detection in patients with thyroid cancer of interest to physicians, said Mimi I. Hu, M.D., professor at The University of Texas MD Anderson Cancer Center, who presented the findings in a poster. As our understanding of the role of genomics in thyroid cancer advances, this information offers the potential to optimize initial treatment, predict response to treatment and prioritize selective targeted therapy should systemic treatment be needed.

In another study, researchers evaluated the positive predictive value of the NTRK, RET, BRAF and ALK fusions in 58 patients with indeterminate thyroid nodules (Bethesda III/IV categories) from Veracytes biorepository for whom surgical pathology diagnoses were available. They found that NTRK and RET fusions were associated with malignancy in 28 of 30 nodules, while risk of malignancy was lower among nodules with ALK (67 percent) or BRAF (75 percent). In a third study, researchers found that when using RNA sequencing data on a large sample of nearly 48,000 thyroid nodule FNA samples (Bethesda categories III-VI), they identified 263 co-occurrences of gene fusions and variants that were previously considered mutually exclusive.

The findings from these three studies underscore the power of our extensive biorepository of thyroid nodule FNA samples and our optimized RNA sequencing platform to advance understanding of the genomic underpinnings of thyroid cancer and to better capture the biology of thyroid lesions, said Richard T. Kloos, M.D., senior medical director, endocrinology, at Veracyte. As precision medicine therapies that target specific gene alterations emerge, understanding individual patients genomic profiles becomes increasingly important to physicians. Our Afirma Xpression Atlas provides this information at the same time as initial diagnosis with the Afirma Genomic Sequencing Classifier, or GSC, to help inform treatment decisions.

Also during the ATA meeting, Veracyte unveiled its new Afirma patient report, which in addition to identifying patients with benign or suspicious-for-cancer nodules among those deemed indeterminate by cytopathology, based on Afirma GSC results, now provides individualized and actionable variant and fusion information on each patient. This information includes: risk of malignancy, associated neoplasm type, relative risk of lymph node metastasis and extrathyroidal extension; availability of FDA-approved therapy; and genetic counseling and germline testing considerations. This information is also provided for patients with cytopathology results that are suspicious for malignancy or malignant (Bethesda V and VI).

About Afirma

The Afirma Genomic Sequencing Classifier (GSC) and Xpression Atlas provide physicians with a comprehensive solution for a complex landscape in thyroid nodule diagnosis. The Afirma GSC was developed with RNA whole-transcriptome sequencing and machine learning and helps identify patients with benign thyroid nodules among those with indeterminate cytopathology results in order to help patients avoid unnecessary diagnostic thyroid surgery. The Afirma Xpression Atlas provides physicians with genomic alteration content from the same fine needle aspiration samples that are used in Afirma GSC testing and may help physicians decide with greater confidence on the surgical or therapeutic pathway for their patients. The Afirma Xpression Atlas includes 761 DNA variants and 130 RNA fusion partners in over 500 genes that are associated with thyroid cancer.

About Veracyte

Veracyte (Nasdaq: VCYT) is a leading genomic diagnostics company that improves patient care by providing answers to clinical questions that inform diagnosis and treatment decisions without the need for costly, risky surgeries that are often unnecessary. The company's products uniquely combine RNA whole-transcriptome sequencing and machine learning to deliver results that give patients and physicians a clear path forward. Since its founding in 2008, Veracyte has commercialized seven genomic tests and is transforming the diagnosis of thyroid cancer, lung cancer and idiopathic pulmonary fibrosis. Veracyte is based in South San Francisco, California. For more information, please visit http://www.veracyte.com and follow the company on Twitter (@veracyte).

Cautionary Note Regarding Forward-Looking Statements

This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "anticipate," "intend," "plan," "expect," "believe," "should," "may," "will" and similar references to future periods. Examples of forward-looking statements include, among others, the ability of Veracytes Afirma Xpression Atlas to analyze FNA samples to help diagnose thyroid cancer, the expected impacts of Veracytes collaboration with Johnson & Johnson in developing interventions for lung cancer, on Veracytes financial and operating results, on the timing of the commercialization of the Percepta classifier, and on the size of Veracytes addressable market. Forward-looking statements are neither historical facts nor assurances of future performance, but are based only on our current beliefs, expectations and assumptions. These statements involve risks and uncertainties, which could cause actual results to differ materially from our predictions, and include, but are not limited to: our ability to achieve milestones under the collaboration agreement with Johnson & Johnson; our ability to achieve and maintain Medicare coverage for our tests; the benefits of our tests and the applicability of clinical results to actual outcomes; the laws and regulations applicable to our business, including potential regulation by the Food and Drug Administration or other regulatory bodies; our ability to successfully achieve and maintain adoption of and reimbursement for our products; the amount by which use of our products are able to reduce invasive procedures and misdiagnosis, and reduce healthcare costs; the occurrence and outcomes of clinical studies; and other risks set forth in our filings with the Securities and Exchange Commission, including the risks set forth in our quarterly report on Form 10-Q for the quarter ended September 30, 2019. These forward-looking statements speak only as of the date hereof and Veracyte specifically disclaims any obligation to update these forward-looking statements or reasons why actual results might differ, whether as a result of new information, future events or otherwise, except as required by law.

Veracyte, Afirma, Percepta, Envisia and the Veracyte logo are trademarks of Veracyte, Inc.

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Veracyte Announces New Data That Advance Understanding of Genomic Alterations Targeted by Precision Medicine Therapies for Thyroid Cancer - Business...

Understand biology and engineer biology. These are the goals of synthetic biology in brief. Due to the developments in sequencing and DNA synthesis, scientists can construct genetic constructs and edit genomes. These tools answer basic research questions and provide biological applications. But synthetic biology can never reach its full potential until artificial genome writing becomes commonplace.

Chromosomes are the hard drives of cells. They contain most of the cells DNA and genes. Bacteria and archaea typically have a single circular chromosome, while eukaryotes contain several linear ones. Besides genetic information, a chromosome contains structural elements. Centromers (that participate in mitosis), telomers (that have a role in maintaining linear chromosome integrity), and origins of replication (that are where DNA replication starts in circular DNA pieces) are some well-known examples.

Artificial chromosomes are chromosomes that have been fully constructed in the lab and assembled within a cell. An important note: artificial chromosomes do not mean artificial life. They function normally within cells and the DNA used is the same as the one found in nature. What is different is their origin they dont come from a DNA template duplication and the genetic information they carry.

The advantages of building a chromosome align with both goals of synthetic biology. The role of many DNA elements is unknown. By recombining, adding, or deleting DNA sequences, we can understand if a genetic part is essential and what does it do. By rewriting a genome from scratch, we can obtain a cell with specific properties and only them! Such cells are invaluable tools for applied and fundamental research.

Current DNA technology makes the construction of short DNA pieces easy and available to most research labs, but the same cannot be said for chromosome assembly. And this is not surprising: a plasmid with a few genes contains a few thousand base pairs; a chromosome several million or billion! As a result, there are very few reported artificial chromosomes reported. The emblematic Yeast 2.0 consortium reported the construction and assembly of six of the yeasts chromosomes. A research group from Switzerland designed and assembled a full bacterial chromosome with its genome minimized to the essential components; so far, they havent managed to insert the chromosome to the organism. A minimal bacterial cell with a synthetic genome was nevertheless announced in 2016 by J. Craig Venter Institute scientists. And recently the molecular biology workhorse, the bacterium E. coli, got its genome replaced by a synthetic variant.

All these works required a huge amount of resources and faced tremendous challenges. And despite the successes, we are a long way from mastering the craft of genome writing. In a recent article, Nili Ostrov and her collaborators in the field of synthetic genomics outline the technological advances needed to reach this goal. They list the following areas of focus: genome design, DNA synthesis, genome editing, and chromosome assembly.

Designing the synthetic chromosome is the first step of a construction workflow. And this step is probably the most critical, as an error there will condemn the whole effort into failure. The information hidden into a genome is too vast to be handled manually. This requires computer aided design tools, which are currently under development. These tools should also predict the effect of alterations in the sequence. Ideally, design software should model how a cell will behave when the synthetic genome replaces its native one.

Chemical DNA synthesis can provide DNA oligos a few hundred base pairs long. This is simply not good enough for chromosome synthesis. DNA synthesis will need to reach the scale of several thousand base pairs, decrease its error rate. And the assembly workflows should minimize the need of iterative cloning steps.

Genome editing is the key to generate many synthetic genome variants. Constructing a chromosome de novo will always be laborious. Genome editing will reduce the need of reconstructing from scratch when we need to insert a few (say, a few thousand) mutations to mimic a certain phenotype. Multiplex genome editing already exists. But instead of 20-50 edits, the techniques should allow for many thousand.

The last step of chromosome writing is the assembly of the final construct. Throwing the smaller DNA parts inside a bakers yeast cell and use its DNA repair system to stitch them up is how its currently done, and it works well. However, the yeast has limitations on what kind of DNA sequences it can work with. For a bigger variety of constructs, we will need more hosts and transformation methods.

Genome writing will accelerate the synthetic biology and genetic engineering applications. In medicine, engineered cells could become accurate disease models, increasing therapeutic efficiency and reducing the need for animal testing. In agriculture, plant cells with engineered genome or plastome can guide breeding and editing efforts to increase productivity and crop robustness. In metabolic engineering, cells will produce compounds optimally. And if we want to adapt organisms for life beyond earths boundaries, chromosome editing will let us test radical redesigns and insert novel properties.

Ostrov and collaborators write that many of the technological breakthroughs can be achieved within the next years. It sounds a bit optimistic, but lets hope we will be pleasantly surprised. Chromosome engineering has the potential to benefit all humankind, but we should be careful to not overhype the potential and promise things we cant deliver. And as the authors say and I couldnt agree more we have to be transparent, ethical, and share the advances globally.

Kostas Vavitsas, PhD, is a Senior Research Associate at the University of Athens, Greece. He is also community editor for PLOS Synbio and steering committee member of EUSynBioS. Follow him on Twitter @konvavitsas

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For synthetic biology to reach its potential, building new chromosomes from scratch must become commonplaceand we may be getting close - Genetic...

If you cannot say yes, then you should keep your mouth shut and thank God every day that you never had to make such a truly hard decision.

Deborah KratterHalf Moon Bay, Calif.

To the Editor:

Im a young, female pro-life activist. Ive donated to pro-life organizations. Spread pro-life information to others. Marched in the streets. Abortion is a massive injustice that violates the right to life.

Ms. Werking-Yip, you admitted that having an abortion meant killing your daughter. Picture someone murdering a 5-year-old girl because they believed she was too sick, too disabled, too abnormal. Society would be horrified. Strangely, its different for a child in a womb.

Every child deserves a chance to live life as much as possible, to stay strong against suffering, to hope for cures to rare disorders, to spend time with loved ones, to be themselves, to be human. Your daughter would have been a gift for this world, an inspiration to others, unique, beautiful. Dont diminish this precious creation of God by arguing that she doesnt deserve to be here.

Jasmine ClarkRaleigh, N.C.

To the Editor:

Having just finished reading Lyndsay Werking-Yips heart-wrenching column, I must say how much I admire the strength she and her husband showed not just in terminating their pregnancy but also in writing openly about their decision.

I have two daughters who are both in week 21 of their first pregnancies. If either of them is faced with a diagnosis as devastating as Ms. Werking-Yips, I hope to God they will make the decision she did with her husband to save a child from a lifetime of suffering. To me that is the definition of parental love.

Carrie C. MahinRadford, Va.

To the Editor:

Six weeks after our daughter was born in 1981, we received the diagnosis following a routine CT scan of her brain. She had suffered a massive stroke to the left temporal lobe, most likely in utero. We were told there were a range of possible outcomes in terms of her development and degree of physical and cognitive impairment.

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Abort to Save a Child From a Life of Suffering? - The New York Times

SINGAPORE - The Rare Disease Fund (RDF) now covers Singaporeans with Pompe disease - a rare inherited neuromuscular disorder where patients can incur medical expenses in excess of $500,000 each year.

The committee overseeing the fund announced on Sunday (Nov 3) that citizens can now apply for financial aid to help with their medical expenses for the disease which affects about one in every 40,000 live births.

With the addition, the fund now covers four conditions including primary bile acid synthesis disorder; Gaucher disease; and hyperphenylalaninaemia due to tetrahydrobiopterin (BH4) deficiency.

The fund has approved two applications for financial support so far. One of the beneficiaries is Mr Geoffrey Toi, a public servant whose three-year-old son Christopher suffers from primary bile acid synthesis disorder.

The condition interferes with the production of bile acids and if untreated, can lead to liver failure.

The fund covers a larger portion of Christopher's medication costs, which is currently about $6,250 a month, as compared to Medifund Junior, which had previously subsidised part of his medical fees.

"It was a blessing when this fund was announced, because it specifically covered his condition. Every bit of help matters," said Mr Toi, 35.

The fund was launched by the Ministry of Health (MOH) and SingHealth Fund in July this year. It combines community donations and Government-matched contributions to provide aid for Singapore citizens with specific rare diseases.

Senior Minister of State for Health and Law Edwin Tong said on Sunday that the fund recently received significant support from Temasek and the Tsao Family Fund.

"The listing of Pompe is possible because we have so many generous benefactors who have stepped forward selflessly, with a lot of compassion, to donate to the RDF," he added.

The fund has grown from $70 million last July to about $90 million, with the government matching community donations by three to one.

In addition, the Government is funding all operational expenses involved in managing the fund, ensuring that all donations received will be used solely for supporting patients.

"We hope that philanthropists, companies, community groups and individuals will continue to come forward as a society, as a community to help support patients with rare diseases... As more funds are raised, the Rare Disease Fund can be expanded further to cover even more types of treatments and more patients in future," said Mr Tong, who was attending a community carnival organised by Mount Alvernia Hospital in support of the RDF.

The carnival in Punggol raised more than $200,000 for beneficiaries of the fund. The sum includes three-to-one government matching.

Rare diseases are defined by MOH as conditions that affect fewer than one in 2,000 people, and mostly are genetic and often surface during childhood. There are no official numbers on how many people in Singapore have such rare diseases.

In some cases, effective treatments are available and the medicines can substantially increase patients' life expectancies and improve quality of life.

However, MOH noted that these medicines can be very costly, going up to hundreds of thousands of dollars a year, and patients will often need to take them for the rest of their lives.

Pompe disease is caused by a defective gene that results in a deficiency of an enzyme.

It results in the excessive build-up of a substance called glycogen, a form of sugar that is stored in a specialised compartment of muscle cells throughout the body.

Symptoms of the disease include extreme muscle weakness and breathing difficulties. The progressive nature of the disease means that it worsens over time, with the speed of progression varying from patient to patient.

Mr Kenneth Mah, whose 10-year-old daughter Chloe has Pompe disease, cheered the move to cover the disease under the RDF.

While insurance covers much of her treatment cost now - which is in excess of $40,000 a month - it may not be enough in future as she gets older and needs more of medicine.

"It gives us a greater peace of mind," said Mr Mah, 49, who ended his mobile phone business to become the main caregiver for Chloe.

Mr Mah is also the co-founder of the Rare Disorders Society Singapore.

"We hope that the fund will be able to cover all rare disorders in the future, as it gets more support from society."

More information on the RDF is available at http://www.kkh.com.sg/rarediseasefund

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Rare Disease Fund now covers Pompe disease, a rare inherited neuromuscular disorder - The Straits Times

The story so far: The Council of Scientific and Industrial Research (CSIR) recently announced the conclusion of a six-month exercise (from April 2019) of conducting a whole-genome sequence of a 1,008 Indians. The project is part of a programme called IndiGen and is also seen as a precursor to a much larger exercise involving other government departments to map a larger swathe of the population in the country. Project proponents say this will widen public understanding in India about genomes and the information that genes hide about ones susceptibility to disease.

A genome is the DNA, or sequence of genes, in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome. The rest is in the mitochondria, the cells powerhouse. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways. The order of base pairs and varying lengths of these sequences constitute the genes, which are responsible for making amino acids, proteins and, thereby, everything that is necessary for the body to function. It is when these genes are altered or mutated that proteins sometimes do not function as intended, leading to disease.

Sequencing a genome means deciphering the exact order of base pairs in an individual. This deciphering or reading of the genome is what sequencing is all about. Costs of sequencing differ based on the methods employed to do the reading or the accuracy stressed upon in decoding the genome. Since an initial rough draft of the human genome was made available in 2000, the cost of generating a fairly accurate draft of any individual genome has fallen to a tenth, or to a ball park figure of around $1,000 (70,000 approximately). It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene. Rather than sequence the whole gene, many geneticists rely on exome maps (that is the order of exomes necessary to make proteins). However, it has been established that the non-exome portions also affect the functioning of the genes and that, ideally, to know which genes of a persons DNA are mutated the genome has to be mapped in its entirety. While India, led by the CSIR, first sequenced an Indian genome in 2009, it is only now that the organisations laboratories have been able to scale up whole-genome sequencing and offer them to the public.

Under IndiGen, the CSIR drafted about 1,000 youth from across India by organising camps in several colleges and educating attendees on genomics and the role of genes in disease. Some students and participants donated blood samples from where their DNA sequences were collected.

Globally, many countries have undertaken genome sequencing of a sample of their citizens to determine unique genetic traits, susceptibility (and resilience) to disease. This is the first time that such a large sample of Indians will be recruited for a detailed study. The project ties in with a much larger programme funded by the Department of Biotechnology to sequence at least 10,000 Indian genomes. The CSIRs IndiGen project, as it is called, selected the 1,000-odd from a pool of about 5,000 and sought to include representatives from every State and diverse ethnicities. Every person whose genomes are sequenced would be given a report. The participants would be informed if they carry gene variants that make them less responsive to certain classes of medicines. For instance, having a certain gene makes some people less responsive to clopidogrel, a key drug that prevents strokes and heart attack. The project involved the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), the CSIR-Institute of Genomics and Integrative Biology (IGIB), and cost 18 crore.

Anyone looking for a free mapping of their entire genome can sign up for IndiGen. Those who get their genes mapped will get a card and access to an app which will allow them and doctors to access information on whether they harbour gene variants that are reliably known to correlate with genomes with diseases. However, there is no guarantee of a slot, as the scientists involved in the exercise say there is already a backlog. The project is free in so far as the CSIR scientists have a certain amount of money at their disposal. The driving motive of the project is to understand the extent of genetic variation in Indians, and learn why some genes linked to certain diseases based on publications in international literature do not always translate into disease. Once such knowledge is established, the CSIR expects to tie up with several pathology laboratories who can offer commercial gene testing services.

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What is 'IndiGen' project that is sequencing Indian genes? - The Hindu

The University of Michigan Genetic Counseling Programis one of the most well established programs in the country and exemplifies our long history of innovation in clinical service and education in genetics and genomics. Michigan graduates emerge as extremely well rounded genetic counselors, who are ready to meet the current challenges in clinical genomic medicine and are able to help guide the evolving practice of genetic counseling and genomic medicine.

The vision of the University of Michigan Genetic Counseling Program is to train genetic counselors that are able to meet the current challenges and to help shape the future of genetic counseling and genomic medicine.

Our mission is to provide an individualized, integrated and supportive graduate training environment comprised of:

Most importantly, our graduate training program is responsive to the interests and unique needs of individual students.

For more information about the U-M Genetic Counseling Program see our2020 Program Prospectus.You can also join us at either of our 'Open House' events:

Introduction to the UMGCP-WebinarOctober 2, 2019; 4-5:30 pm

Introduction to the UMGCP-Open House in Ann ArborOctober 18, 2019; 3-5 pm

Click the above links for details about the event and information on how to RSVP!

Contact us at UMGenetics@umich.edu.

The University of Michigan Masters in Genetic Counseling program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 4400 College Blvd., Ste. 220, Overland Park, KS 66211, web addresswww.gceducation.org. ACGC can be reached by phone at 913.222.8668.

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Genetic Counseling Program - medicine.umich.edu

Services We Offer

Services we offer include:

Learn More About Our Services

A genetics consult starts with a phone call from a genetic counseling assistant. The assistant will gather information about the reason for the visit, obtain a detailed history of any problems in the family (which is called a pedigree) and possibly request medical records from other providers or hospitals. Sometimes, the assistant may need sensitive information. During this first contact, if you do not want to come for a full visit or have concerns about sharing sensitive information, please let us know.

The first appointment will take about two hours.If the person who is referred is a child, they MUST come to the visit. Plan to arrive at least 30 minutes before your appointment time to allow ample time to get registered, complete forms and have measurements taken (height, weight, blood pressure).

You will meet with several healthcare providers at this visit. This will include a genetic counselor, a genetic nurse practitioner or genetics physician, and possibly a metabolic dietician.

A consult with genetics is more than having genetic testing. It includes a full assessment that consists of taking a detailed history, reviewing outside medical records and performing a complete exam. We will discuss possible conditions, provide genetic counseling and review what may be needed to establish a diagnosis. A decision about whether testing is required, and what kind of tests should be performed, will be discussed at the first visit.

In most cases, testing will not be done at that time. If testing is recommended, we will work with your insurance to get prior authorization and let you know when to return for testing.

A return visit with the nurse practitioner, geneticist or genetic counselor is often needed when test results are available. Our team will go over what the results mean and discuss any next steps. Genetic counseling will be provided at every step to ensure you understand what the results mean for the patient and the family. Finally, any needed additional tests will be ordered, and a care plan with specific treatments, if available, will be made.

Clinical services are supported partly by the Ohio Department of Health as a Regional Genetics Center of the State of Ohio, Region IV.

Kim L. McBride, MD, MS, is Division Chief of Genetic and Genomic Medicine at Nationwide Children's Hospital.

Dennis W. Bartholomew, MD, is Section Chief of Genetic and Genomic Medicine and Director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine at Nationwide Childrens Hospital and a Clinical Professor of Pediatrics at The Ohio State University College of Medicine.

Genetics ClinicTower Building, 4th Floor, Suite D700 Children's DriveColumbus, OH 43205(614) 722-3535FAX (614) 722-3546Metabolic ClinicTower Building, 4th Floor, Suite D700 Childrens DriveColumbus, OH 43205(614) 722-3543FAX (614) 722-3546Dublin Genetics ClinicDublin Medical Office Building5665 Venture DriveDublin, OH 43017(614) 722-3535FAX (614) 722-3546Tuesdays all day

Westerville Genetics ClinicClose To Home Center on N. Cleveland AvenueWesterville, OH 43082(614) 722-3535FAX (614) 722-3546Mondays 12:30 pm 5:00pm

Athens Outreach278 W. Union StreetAthens, OH 45701To schedule, call: (614) 592-4431FAX (614) 594-9929Held bimonthly on a Wednesday

Marietta OutreachMarietta City Health Department304 Putnam StreetMarietta, OH 45750To schedule, call: (740) 373-0611FAX (740) 376-2008Held bimonthly on a Wednesday

Waverly OutreachPike County General Health District14050 US23 NWaverly, Ohio 45690To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Office Phone: (740) 947-7721Office Fax (740) 947-1109Held bimonthly on a Wednesday

Zanesville OutreachMuskingham Valley Health Care719 Adair AvenueZanesville, Ohio 43701To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Held bimonthly on a Wednesday

22q CenterNationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6373

Complex Epilepsy Clinic (Epilepsy Center)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000

Cleft Lip and Palate CenterNationwide Childrens Hospital700 Children's DriveSuite T5EColumbus, Ohio 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6366Tues. 12:30 pm 5 pm

Cystic Fibrosis ClinicOutpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205Phone: (614) 722-4766Fax: (614) 722-4755Tues PM, Wed PM, and Thurs PM

Down Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050

Muscular Dystrophy Association(MDA)/Spinal Muscular Atrophy (SMA) ClinicOutpatient Care Center, 1st Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-2203Wednesdays

Myelomeningocele Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050Friday AM

Prader-Willi Syndrome Clinic (Endocrinology)Outpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-44252nd Friday of the month

Williams Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-40502nd Tuesday of the month

The mission of the Center for Gene Therapy is to investigate and employ the use of gene- and cell-based therapeutics for prevention and treatment of human diseases.

The Center for Cardiovascular Research conducts innovative research leading to improved therapies and outcomes for pediatric cardiovascular diseases and promotes cardiovascular health in adults.

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Genetic and Genomic Medicine - nationwidechildrens.org

Genetic medicine is the integration and application of genomic technologies allows biomedical researchers and clinicians to collect data from large study population and to understand disease and genetic bases of drug response. It includes genome structure, functional genomics, epigenomics, genome scale population genomics, systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease.

Related Journals of Genetic Medicine

Cellular & Molecular Medicine, Translational Biomedicine, Biochemistry & Molecular Biology Journal, Cellular & Molecular Medicine, Electronic Journal of Biology, Molecular Enzymology and Drug Targets, Journal of Applied Genetics, Journal of Medical Genetics, Genetics in Medicine, Journal of Anti-Aging Medicine, Reproductive Medicine and Biology, Romanian journal of internal medicine

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Genetic Medicine | List of High Impact Articles | PPts ...

The Genetic Counseling Graduate Program at IU School of Medicine is a 21-month Masters level program thats accredited by the Accreditation Council for Genetic Counseling (ACGC). The program offers comprehensive training and hands-on clinical experience to prepare students for a challenging and rewarding career in genetic counseling. The programs faculty and staff are proud to have contributed to the training of accomplished genetic counselors for more than 25 years.

Students learn through a variety of courses on genetics, laboratory and psychosocial topics as well as through extensive clinical experience and individual clinical research. Graduates of this MS program are accomplished in all areas of genetic counseling, including cancer, prenatal and pediatric genetics, public health genomics and industry, and they have a strong record of success on the ABGC board examination.

The Genetic Counseling Graduate Program curriculumbegins with a fall semester of didactic courses and clinical observations that focus on the basics of human genetics and enable students to begin practical application of skills in clinical case research and preparation, medical documentation, and patient counseling in the clinical setting. Clinical rotations begin in the spring semester of the first year and continue throughout the summer semester and entire second academic year. Successful completion of the Genetic Counseling graduate program at IU School of Medicine leads to a Master of Science degree in medical genetics.

Students in this program are supervised by supportive, experienced, licensed certified genetic counselors and board-certified medical geneticists. The curriculum offers deep clinical experience, which requires active participation in all aspects of the case preparation, counseling and follow-up as well as experience across numerous specialty areas, including pediatrics, cancer, prenatal diagnostics, metabolism, cardiovascular genetics, neurogenetics, and more.

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Master of Science in Genetic Counseling | Medical and ...

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

Originally posted here:
What is genetic testing? - Genetics Home Reference - NIH

An applicant must successfully complete requirements of both theUW-Madison Graduate Schooland the Master of Genetic Counselor Studies program (MCGS) to be considered a qualified applicant.

Most applicants have a balanced set of experiences, clear communication skills and strong letters of recommendations as well as high academic achievement. Strong applicantsdemonstrate an insightful process towardtheir career development and a high level of maturity.

Applicants must have a bachelor's degree. Although a specific major is not required, most applicants have a degree in a biological science (e.g. biology, genetics, biochemistry).

The average GPA of admitted students is 3.5. In following the Graduate Schools requirements for admission, a minimum undergraduate grade-point average (GPA) of 3.00 on the equivalent of the last 60 semester hours (approximately two years of work)ora master's degree with a minimum cumulative GPA of 3.00 is required. If a student has an undergraduate GPA less than 3.0, coursework completed after graduation demonstrating a higher GPA will be considered.

An applicant must complete courses in biochemistry, statistics and advanced genetics. An appropriate biochemistry course generally requires prerequisites that include at least one semester of chemistry and organic chemistry. Advanced genetic courses are typically designed for life science majors (e.g. biology, genetics, or molecular and cell biology majors). Generally, only having one introductory genetics course intended for non-science majors is not sufficient. We encourage students to take as many relevant genetics and biology courses as possible to strengthen their application. All required courses should be taken prior to applying as it is difficult to evaluate courses in progress at the time of application.

Completion of the GRE is required. This exam is used as a marker of likelihood of academic success. There is no specific cutoff value; a brochure (pdf)created by the Association of Genetic Counseling Program Directors includes average GRE scores of applicants. The Subject GRE is not required.

As per the requirements of the Graduate School, "Every applicant whose native language is not English, or whose undergraduate instruction was not in English, must provide an English proficiency test score." Given that the profession of genetic counseling is highly dependent on excellent communication skills, applicants must have a high degree of fluency in verbal and written communication. Strong candidates have TOEFL scores approaching 110 (iBT). TOEFL scores less than 100 (iBT) will not be considered for admission.

Observation of a genetic counselor(s) is a good method to learn more about the profession. This process is to help one identify if the field of genetic counseling is a good fit with one's personal and career goals. Recognizing that this clinical experience is not always possible, interviewing genetic counselors is a reasonable option. Simulated genetic counseling sessions are available on theNational Society of Genetic Counselors website as an additional resource to supplement other exposure. Please list such experience in your resume/CV.

Given the nature of this profession, having experience in advocacy or counseling is of significant value. Such experience helps one appreciate and develop interpersonal communication skills, have a better understanding of the patient or person's experience, and to have a better understanding of the healthcare system or other public service system. Applicants typically have experiences from many different settings including: Planned Parenthood, domestic abuse shelters, crisis hotlines, peer counseling, homeless shelters, hospice care, or working with individuals with physical disabilities or intellectual impairment.

Three letters of recommendation are required that demonstrate ones academic, professional and advocacy strengths.

As noted on theNational Society of Genetic Counselors website, applicants often engage in various types of experiences outside of the typical classroom. Experiences should aid intheir decision to pursue a career in genetic counseling. Most applicants have held various types of jobs, completed research or laboratory work, or volunteered with various organizations such as Special Olympics.

Follow this link:
Admission Requirements | Genetic Counseling Program

Most of the time, genetic testing is done through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers determine which test is needed, order the test from a laboratory, collect and send the DNA sample, interpret the test results, and share the results with the patient. Often, a health insurance company covers part or all of the cost of testing.

Direct-to-consumer genetic testing is different: these genetic tests are marketed directly to customers via television, print advertisements, or the Internet, and the tests can be bought online or in stores. Customers send the company a DNA sample and receive their results directly from a secure website or in a written report. Direct-to-consumer genetic testing provides people access to their genetic information without necessarily involving a healthcare provider or health insurance company in the process.

Dozens of companies currently offer direct-to-consumer genetic tests for a variety of purposes. The most popular tests use genetic variations to make predictions about health, provide information about common traits, and offer clues about a persons ancestry. The number of companies providing direct-to-consumer genetic testing is growing, along with the range of health conditions and traits covered by these tests. Because there is currently little regulation of direct-to-consumer genetic testing services, it is important to assess the quality of available services before pursuing any testing.

Other names for direct-to-consumer genetic testing include DTC genetic testing, direct-access genetic testing, at-home genetic testing, and home DNA testing. Ancestry testing (also called genealogy testing) is also considered a form of direct-to-consumer genetic testing.

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What is direct-to-consumer genetic testing? - Genetics ...

"Etiologies" and "etiologic" redirect here. For other uses, see etiology.

Cause, also known as etiology () and aetiology, is the reason or origination of something.[1]

The word is derived from the Greek , aitiologia, "giving a reason for" (, aitia, "cause"; and -, -logia).[2]

In medicine, the term refers to the causes of diseases or pathologies.[3] Where no etiology can be ascertained, the disorder is said to be idiopathic.Traditional accounts of the causes of disease may point to the "evil eye".[4]The Ancient Roman scholar Marcus Terentius Varro put forward early ideas about microorganisms in a 1st-century BC book titled On Agriculture.[5]

Medieval thinking on the etiology of disease showed the influence of Galen and of Hippocrates.[6] Medieval European doctors generally held the view that disease was related to the air and adopted a miasmatic approach to disease etiology.[7]

Etiological discovery in medicine has a history in Robert Koch's demonstration that the tubercle bacillus (Mycobacterium tuberculosis complex) causes the disease tuberculosis, Bacillus anthracis causes anthrax, and Vibrio cholerae causes cholera. This line of thinking and evidence is summarized in Koch's postulates. But proof of causation in infectious diseases is limited to individual cases that provide experimental evidence of etiology.

In epidemiology, several lines of evidence together are required to infer causation. Sir Austin Bradford-Hill demonstrated a causal relationship between smoking and lung cancer, and summarized the line of reasoning in the epidemiological criteria for causation. Dr. Al Evans, a US epidemiologist, synthesized his predecessors' ideas in proposing the Unified Concept of Causation.

Further thinking in epidemiology was required to distinguish causation from association or statistical correlation. Events may occur together simply due to chance, bias or confounding, instead of one event being caused by the other. It is also important to know which event is the cause. Careful sampling and measurement are more important than sophisticated statistical analysis to determine causation. Experimental evidence involving interventions (providing or removing the supposed cause) gives the most compelling evidence of etiology.

Related to this, sometimes several symptoms always appear together, or more often than what could be expected, though it is known that one cannot cause the other. These situations are called syndromes, and normally it is assumed that an underlying condition must exist that explains all the symptoms.

Other times there is not a single cause for a disease, but instead a chain of causation from an initial trigger to the development of the clinical disease. An etiological agent of disease may require an independent co-factor, and be subject to a promoter (increases expression) to cause disease. An example of all the above, which was recognized late, is that peptic ulcer disease may be induced by stress, requires the presence of acid secretion in the stomach, and has primary etiology in Helicobacter pylori infection. Many chronic diseases of unknown cause may be studied in this framework to explain multiple epidemiological associations or risk factors which may or may not be causally related, and to seek the actual etiology.

Some diseases, such as diabetes or hepatitis, are syndromically defined by their signs and symptoms, but include different conditions with different etiologies. These are called heterogeneous conditions.

Conversely, a single etiology, such as Epstein-Barr virus, may in different circumstances produce different diseases such as mononucleosis, nasopharyngeal carcinoma, or Burkitt's lymphoma.

An endotype is a subtype of a condition, which is defined by a distinct functional or pathobiological mechanism. This is distinct from a phenotype, which is any observable characteristic or trait of a disease, such as morphology, development, biochemical or physiological properties, or behavior, without any implication of a mechanism. It is envisaged that patients with a specific endotype present themselves within phenotypic clusters of diseases.

One example is asthma, which is considered to be a syndrome, consisting of a series of endotypes.[8] This is related to the concept of disease entity.

Other example could be AIDS, where an HIV infection can produce several clinical stages. AIDS is defined as the clinical stage IV of the HIV infection.[9]

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Cause (medicine) - Wikipedia

Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82.

Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007 Jul;46(7):617-34. Review.

De Falco G, Giordano A. pRb2/p130: a new candidate for retinoblastoma tumor formation. Oncogene. 2006 Aug 28;25(38):5333-40. Review.

Ewens KG, Bhatti TR, Moran KA, Richards-Yutz J, Shields CL, Eagle RC, Ganguly A. Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. Cancer Med. 2017 Mar;6(3):619-630. doi: 10.1002/cam4.1010. Epub 2017 Feb 17.

Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [updated 2015 Nov 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1452/

Madhavan J, Ganesh A, Kumaramanickavel G. Retinoblastoma: from disease to discovery. Ophthalmic Res. 2008;40(5):221-6. doi: 10.1159/000128578. Epub 2008 Apr 29. Review.

Mallipatna A, Marino M, Singh AD. Genetics of Retinoblastoma. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):260-4. doi: 10.1097/APO.0000000000000219. Review.

Poulaki V, Mukai S. Retinoblastoma: genetics and pathology. Int Ophthalmol Clin. 2009 Winter;49(1):155-64. doi: 10.1097/IIO.0b013e3181924bc2. Review.

Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Thriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13.

Schefler AC, Abramson DH. Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol. 2008 Nov;19(6):526-34. doi: 10.1097/ICU.0b013e328312975b. Review.

Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9.

Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HS, Hon E, Gallie BL. Prenatal versus Postnatal Screening for Familial Retinoblastoma. Ophthalmology. 2016 Dec;123(12):2610-2617. doi: 10.1016/j.ophtha.2016.08.027. Epub 2016 Oct 3.

Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Genetics and Molecular Diagnostics in Retinoblastoma--An Update. Asia Pac J Ophthalmol (Phila). 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711.

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Retinoblastoma - Genetics Home Reference - NIH

It has often been estimated that it takes, on average, 17years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or "clinical utility," professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRIGenomic Medicine Working Group(GMWG) has been gathering expert stakeholders in a series of genomic medicine meetingsto discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical toolset, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to theNational Advisory Council on Human Genome Research (NACHGR)and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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Genomics and Medicine | NHGRI

A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.

Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.

Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.

Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.

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Androgenetic alopecia - Genetics Home Reference - NIH

Are Freckles Harmful?

Freckles are harmless. They may sometimes be confused with more serious skin problems. Conversely, more serious problems such as skin cancer may at times be passed over as a mere freckle. Anyone who has one or more pigmented spots of which they are not certain should be seen by a dermatologist. Treatments are available to lighten or eliminate those freckles whose appearance bothers their owners.

What are freckles?

Freckles are flat, beige, brown circular spots that typically are the size of the head of a metal nail. The spots are multiple and may develop on sun-exposed skin after repeated exposure to sunlight. These are particularly common in people with red hair and a fair complexion. They may appear on children as young as 1 or 2 years of age.

Most freckles are generally uniform in color but can vary somewhat in color -- they may be reddish, yellow, tan, light brown, brown, or black -- but they are basically slightly darker than the surrounding skin. They may become darker and more apparent after sun exposure and lighten in the winter months. Freckles are due to an increase in the amount of dark pigment called melanin and an increase in the total number of pigment-producing cells called melanocytes. The word freckle comes from the Middle English freken, which, in turn, came from the Old Norse freknur, meaning "freckled." (Some speakers of Old English and Old Norse must have had a tendency to develop freckles.)

What types of freckles are there? Freckles vs. lentigines

Ephelides (singular: ephelis) is the Greek word and medical term for freckle. This term refers to 1 mm-2 mm flat spots that are tan, slightly reddish, or light brown and typically appear during the sunny months. They are most often found on people with light complexions, and in some families, they are a hereditary (genetic) trait. People with reddish hair and green eyes are more prone to these types of freckles. Sun avoidance and sun protection, including the regular use of sunscreen, help to suppress the appearance of the freckles.

Lentigines (singular: lentigo) comes from the Latin word for lentil and is the medical term for certain types of larger pigmented spots most commonly present at the site of previous sunburn and sun damage. Lentigines are often darker than the common freckle and do not usually fade in the winter. This kind of spot is referred to as lentigo simplex or solar lentigo. The number of melanocytes and melanosomes (cellular structures that contain melanin pigment) are normal in number and appearance. Although occasionally lentigines are part of a certain rare genetic syndromes, for the most part they are just isolated and unimportant spots.

What are "liver spots" or "age spots"?

"Liver spots" or "age spots" are common names for solar lentigines on the back of the hands. The term "liver spot" is actually a misnomer since these spots are not caused by liver problems or liver disease. While lentigines do tend to appear over time, they are not in themselves a sign of old age but a sign of sun exposure.

Freckles vs. moles

Moles are small, almost sightless mammals (a shrew relative) that tunnel beneath the ground and occasionally damage suburban lawns and golf courses. This term when used to describe something on the skin is very nonspecific. Most of the time it refers to a brown to black flat to slightly elevated bump. The type of cells of which the bump is composed distinguish the real nature of mole. For example, a mole composed of benign melanocytes is called a melanocytic nevus.

Frequently, elderly people may have raised, brown, crusty lesions called seborrheic keratoses in or around the same areas where lentigines are plentiful. Seborrheic keratoses are also benign (not malignant) growths of the skin. Some patients call these growths "barnacles" or "Rice Krispies." Although they are most often medium brown, they can differ in color ranging anywhere from light tan to black. They occur in different sizes, too, ranging anywhere from a fraction of an inch (or centimeter) to an inch (2.5 cm) in diameter. Typically, these growths are around the size of a pencil eraser or slightly larger. Some lesions begin as a flat, brown spot, indistinguishable from a lentigo. Then they gradually thicken, forming the waxy stuck-on appearance of seborrheic keratoses. They look like they have either been pasted on the skin or may look like a dab of melted brown candle wax that dropped on the skin. Seborrheic keratoses may occur in the same areas as freckles. Seborrheic keratoses are also more common in areas of sun exposure, but they may also occur in sun-protected areas. When they first appear, the growths usually begin one at a time as small rough bumps. Eventually, they may thicken and develop a rough, warty surface.

Seborrheic keratoses are quite common especially after age 40. Almost everybody may eventually develop at least a few seborrheic keratoses during their lifetime. They are sometimes referred to as the "barnacles of old age."

What causes freckles?

Freckles are thought to develop as a result of a combination of genetic predisposition (inheritance) and sun exposure. The sun and fluorescent tanning lights both emit ultraviolet (UV) rays, which when absorbed by the skin enhances the production of melanin pigment by cutaneous melanocytes. People with blond or red hair, light-colored eyes, and fair skin are especially susceptible to the damaging effect of UV rays and likely to develop freckles. A freckle is essentially nothing more than an unusually heavy deposit of melanin at one spot in the skin.

Is it possible to inherit freckles?

Heredity or more accurately skin color is a very important factor in the susceptibility to form freckles. The tendency to freckles is inherited by individuals with fair skin and/or with blond or red hair. Very darkly pigmented individuals are unlikely to develop freckles.

Research in twin siblings, including pairs of identical twins and pairs of fraternal (nonidentical) twins, have found a striking similarity in the total number of freckles found on each pair of identical twins. Such similarities were considerably less common in fraternal twins. These studies strongly suggest that the occurrence of freckles is influenced by genetic factors. A number of genes have been associated with freckling: MC1R, IRF4. ASIP, TYR, and BNC2.

Why do freckles form on body areas not exposed to the sun?

True freckles almost never occur on covered skin and pose essentially no health risk at all. They are all absolutely harmless. They are not cancerous and generally do not become cancerous. A rare skin finding called axillary freckling (freckles in the armpit) is occasionally seen in a rare inherited disease called neurofibromatosis. These freckles are quite different in appearance from the common variety in both their appearance and distribution.

Anyone who has one or more uncertain pigmented spots should have their dermatologist evaluate them. Even verbal descriptions and photographs cannot convey enough information for satisfactory self-diagnosis. As always, it is better to be safe than sorry.

The American Academy of Dermatology recommends a full-body skin examination for adults as part of a routine annual health exam. It is important to have any new, changing, bleeding mole or growth examined by your physician or dermatologist as soon as possible. Skin cancers are curable if diagnosed and treated at an early stage.

What is the treatment for freckles?

Freckles are rarely treated. Several safe but expensive methods are available to help lighten or reduce the appearance of freckles. Frequently, multiple or a combination of treatments may be required for best results. Not everyone's skin will improve with similar treatments, and freckles can often recur with repeated UV exposures.

Are there home remedies for freckles?

There are no home remedies that adequately treat freckles. A quick Internet search will reveal a whole host of treatments, most of which are composed of a variety of edible goodies. Makeup can be of great benefit in concealing freckles.

What is the value of freckles?

Some people like their freckles, while others may be more bothered by their appearance. The cosmetic improvement of the skin is a frequent request among people with freckles. On the other hand, freckles are desirable by some people who like the special character or uniqueness these give them.

Freckles can have their value. One is in poetry. For example, without freckles, Oliver Wendell Holmes (1809-1894), the American physician, professor, and man of letters, could not have written:

His home! the Western giant smiles,And twirls the spotty globe to find it;This little speck, the British Isles? 'Tis but a freckle, never mind it.

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Is it possible to prevent freckles?

Since we cannot change our own genetic component of freckling, our main prevention measures are aimed at sun avoidance and sun-protection, including

Freckle prevention is more effective than freckle removal. Freckle-reduction treatments are more difficult and often not satisfactory. People with known hereditary tendencies of freckling should start sun protection early in childhood. Much of the sun and UV skin damage occurs often while children are under age 18.

Fair-skinned people who are more prone to freckling and sunburns are also generally more at risk for developing skin cancers. Freckles may be a warning sign of sensitive skin that is highly vulnerable to sunburn and to potential skin cancer.

Medically Reviewed on 12/27/2018

References

Bastiaens, Maarten, et al. "The Melanocortin-1-Receptor Gene Is the Major Freckle Gene." Human Molecular Genetics 10.16 (2001): 1701-1708.

Freckles.org. <http://www.freckles.org/>.

Green, Adle C., Sarah C. Wallingford, and Penelope McBride. "Childhood exposure to ultraviolet radiation and harmful skin effects: Epidemiological evidence." Progress in Biophysics and Molecular Biology 107 (2011): 349-355.

Praetorius, Christian, Richard A. Sturm, and Eirikur Steingrimsson. "Sun-Induced Freckling: Ephelides and Solar Lentigines." Pigment Cell & Melanoma Research 27 (2014): 339-350.

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Freckles Treatment, Causes & Types - MedicineNet