Category Archives: Genetic medicine

Your genes can effect how you respond to medicine. Genetic testing can help identify the right drug at the right dose for a patient. Courtesy of Mayo Clinic

Predicting whether a patient like KerriePrettitorewill have a fatal reaction to a chemotherapy drug or even whether adrugwill work at all is the future of medicine, and its coming soon.

Genetic testing can help predict how patients will respond to a drug,whether its designed to combat cancer or other illnesses. Eventually, that will enable doctors to individualize patient treatment, choosing a medication and dose to best match a patients genetic profile. The goal is to maximize benefit while minimizing harm.

Research inseveral areasalready is having an impact:

KerriePrettitore, a Ridgewood woman,suffered from a genetic abnormality called DPD deficiency, which prevents someone from breaking down the chemotherapy drug 5-FU, or fluorouracil.Agenetic test can help identify patients who may be at risk of developing such a reaction.

Frances national drug-regulating agency began recommending last year that all patientsprescribed5-FU and related drugs be screened for DPD deficiency beforehand. Two hundred people a year die in France because they receive the drug and have DPD deficiency, according to a company that performs such tests. The company recommends that the genetic test be combined with a blood test for maximum accuracy, a practice that has been used in the Netherlands for almost a decade.

In theUnited States, testing for DPD deficiency is not currently recommended by major cancer treatment organizations.But some scientists say change will come soon.

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Genetic testsmust be inexpensive,produce results quickly and provide clinically useful informationto be cost-effective, said RobertDiasio, an authority on DPD deficiency and director of the Mayo Clinic Cancer Center. The tests currently availablefor DPD deficiencydont yet meet that standard, he said.

The testsdont identify everyone atrisk,and they may identify a mutation in a person who turns out to be able to tolerate the drug, he said. Thats because they test for only a handful of mutations. They dont testfor all possible mutations because it is expensive andyieldsinformation that scientists dont yet know how to interpret.

But the cost of a complete genetic analysis is coming downandthe turnaround time is getting quicker, he noted. Moreknowledge is needed, however,about which mutations are important and which are irrelevant to doctorsmakingprescribing decisions,Diasiosaid.

At the Mayo Clinics Center for Individualized Medicine,astudy of 10,000 Minnesota patientsis underway. It will integratepatients genetic informationinto theirelectronic medical recordsto inform physicians about significant linkages when certain medications are prescribed.

As research advances, more linkages will be discovered and included in the individual records. The goal isto help patients get the right drug at the right dose for their disease personalized medicine at its best.

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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

Healthcare, which has been the second-worst performer among the 11 major S&P 500 sectors this year, took the center stage this month with some outperformance compared to other sectors. This is especially true against the backdrop of positive news flow, including trial results and deal activities. Better-than-expected corporate earnings added to the strength.

Flurry of News Flow

Biogen BIIB has spread optimism into the broad healthcare sector following its Alzheimer treatment report. The biotech company decided to move forward with the approval of aducanumab, a treatment for early Alzheimers diseases, after the drug met the primary endpoint of a Phase 3 Emerge study. If approved, Biogens drug would be the first to slow cognitive decline in Alzheimers patients, a milestone in long-running efforts to find a medicine that can treat the memory-robbing disease.

Hepion Pharmaceuticals HEPA also led the sector higher following data that showed potential for its CRV431 as a drug candidate for liver disease treatment. A pan-cyclophilin inhibition, CRV431, is well suited to address multiple therapeutic needs that are currently either underserved, or completely absent. It reduces fibrosis and tumor development in chronic liver disease models (read: Biotech ETFs Surge on a Flurry of Positive News).

Additionally, Alexion Pharmaceuticals ALXN, which joined the ongoing M&A wave in the pharma/biotech sector, added to the strength in the space. The company agreed to acquire a clinical-stage biopharmaceutical company Achillion Pharmaceuticals ACHN for $930 million in a move to expand its pipeline of rare disease treatments. Under the terms of the deal, Alexion will pay $6.30 for each Achillion share outstanding, which is 73% higher than the Oct 15 closing price. The deal also includes potential for an additional payment for Achillion shares in the form of contingent value rights (CVRs) to be paid if certain clinical and regulatory milestones are achieved. The transaction is expected to close in the first half of 2020, subject to approvals, including from Achillion shareholders.

Solid Earnings

A solid Q3 earnings report from Biogen also drove the stock price and the sector higher. The biotech company beat estimates for both earnings and revenues. Pharma giants Merck MRK and Pfizer PFE came up with an earnings beat and raised their financial forecast. Upbeat results from the duo have raised hopes about Big Pharmas prospects even as politicians focus on health-care costs ahead of the 2020 election (read: What's in Store for Healthcare ETFs in Q3 Earnings?).

Given this, we highlight six healthcare ETFs that are leading the way higher in October.

Virtus LifeSci Biotech Clinical Trials ETF BBC Up 13.3%

This fund has a novel approach to biotechnology investing with exposure to companies that are in the clinical trial stage. This can easily be done by tracking the LifeSci Biotechnology Clinical Trials Index. BBC has amassed $23.6 million in its asset base and charges 79 bps in fees per year from its investors. It trades in a light average daily volume of around 4,000 shares and holds 95 securities in its basket with each accounting for no more than 2.7% share. The product carries a Zacks ETF Rank #3 (Hold) with a High risk outlook.

ALPS Medical Breakthroughs ETF SBIO Up 13%

This fund provides exposure to companies with one or more drugs in Phase II or Phase III FDA clinical trials by tracking S-Network Medical Breakthroughs Index. It holds 78 securities in its basket with none accounting for more than 5.1% share. The product charges 50 basis points in fees per year from investors and trades in a moderate average daily volume of about 34,000 shares. It has AUM of $171.4 million in its asset base and has a Zacks ETF Rank #3 with a High risk outlook (read: Top-Performing Biotech ETFs YTD).

SPDR S&P Pharmaceuticals ETF XPH Up 10.7%

This fund provides exposure to pharma companies by tracking the S&P Pharmaceuticals Select Industry Index. With AUM of $184.4 million, it trades in good volume of around 69,000 shares a day and charges 35 bps in fees a year. In total, the product holds 39 securities with none accounting for more than 5.71% of assets. It has a Zacks ETF Rank #3 with a High risk outlook.

iShares U.S. Healthcare Providers ETF IHF Up 10.3%

This ETF follows the Dow Jones U.S. Select Healthcare Providers Index with exposure to companies that provide health insurance, diagnostics and specialized treatment. In total, the fund holds 49 securities in its basket with each making up for no more than 23.3%. The fund has amassed $790.4 million in its asset base, while volume is moderate at about 79,000 shares per day on average. It charges 43 bps in annual fees and has a Zacks ETF Rank #3 with a Medium risk outlook (read: Healthcare ETFs to Buy on UnitedHealth's Solid Q3 Earnings).

SPDR S&P Biotech ETF XBI Up 10.1%

With AUM of $3.8 billion, XBI provides equal-weight exposure of around 2% across 117 biotechnology stocks by tracking the S&P Biotechnology Select Industry Index. It has 0.35% in expense ratio and trades in an average daily volume of 4.6 million shares. The fund has a Zacks ETF Rank #2 (Buy) with a High risk outlook.

Global X Genomics & Biotechnology ETF GNOM Up 10.1%

This is a new entrant in the space having accumulated $15.3 million since its inception on Apr 5. It seeks to invest in companies that potentially stand to benefit from further advances in the field of genomic science, such as companies involved in gene editing, genomic sequencing, genetic medicine/therapy, computational genomics and biotechnology. The product follows the Solactive Genomics Index, charging 68 bps in annual fees. It holds 42 stocks in its basket with each accounting for less than 6.8% shares. GNOM trades in average daily volume of 4,000 shares (read: ETFs to Gain From the Booming Genomics Market).

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Healthcare ETFs Win in October: Here's Why - Yahoo Finance

A genetic test showing how people respond to common medicines has the potential to revolutionise the way doctors prescribe drugs. Business editor Maria Slade reports.

Sleeping has never been my strong suit. Throughout my adult life Ive tried everything from hypnosis and hot milk to yoga and the droning narrations of the History Channel, with varying degrees of success.

Ive also tried drugs, of course, but doctors are generally pretty dark on handing out sleeping pills. After two decades of intermittent insomnia my GP and I have come to an understanding: he will give me melatonin for everyday use, and a tiny handful of Zopiclone in extreme circumstances, eg economy air travel.

Who would have thought cruciferous vegetables could upset that carefully balanced equilibrium? For it turns out I am an ultrarapid metaboliser of melatonin, a fast processor of the sleep regulating hormone, particularly if I smoke or eat a lot of broccoli and cauliflower.

I know this because Ive had my DNA tested to see how I respond to a raft of common medicines. With the swab of a cheek Waikato-based Pinnacle Ventures myDNA test can detect how well I metabolise around 60% of the most regularly prescribed medications, including statins, antidepressants and anti-inflammatories.

Tests like myDNA are moving healthcare away from a one-size-fits-all approach and reducing the trial and error often associated with prescribing new medicines. The new tools have the potential to save the nation millions on the annual drugs bill, not to mention improve health outcomes.

Known as pharmacogenomics, the science is well established but the medical profession is only now starting to get on board with the benefits it can provide. While knowing to avoid too much broccoli when taking melatonin is a small outcome for me, for other people the ramifications of their genetic makeup can be far-reaching. Some antipsychotic medications fall into the same CYP1A2 gene category as melatonin which has implications for schizophrenic patients, Pinnacle Ventures medical director Dr Kerry Macaskill-Smith says.

Most of them smoke, so you have to give them quite a lot of medicine to get it working. And if they quit smoking their medicine level is going to build up and possibly go to toxic levels. If we know this we can monitor you much more closely.

Macaskill-Smith isnt advising me to cut brassicas out of my diet. The key is my GP possessing the information about how I react to medications and being able to prescribe accordingly. Pinnacle Ventures is in the process of integrating myDNA with health records software programmes so that the test results can be sent directly to healthcare providers, for two important reasons: to protect patient information, and to prevent people from misinterpreting the results.

Pinnacle Ventures medical director Dr Kerry Macaskill-Smith (Photo: Supplied.)

The myDNA test doesnt look at any disease-risk genetic information, so it wont tell you whether you might get cancer, for example. I personally think thats quite a good thing, because what do you do with that information? Macaskill-Smith asks. It also wont tell you whether youre related to the British royal family or descended from vikings. It is specifically designed to look at your reaction to medicines, and the information isnt used for anything else.

The test results follow a traffic light system green for medications that will behave more or less normally in your body, amber for ones with minor prescribing considerations, and red where theres more of an issue. My melatonin/broccoli sensitivity fell into the red category. Statins have an amber-level adverse effect on me, in that some brands are more likely to cause me muscle pain, and I also have a reduced response to opioid pain relievers which comes as no surprise given a family history of funny reactions to morphine.

Everybodys got something, Macaskill-Smith says. Its very unusual for a person to get all the way through their report without having something they can take action on or something that would affect their future prescribing, weve found. It can save six weeks to three months of mucking around trying to get a medication right, for instance with antidepressants where it takes a cycle to see how it works, she says.

Once youve got a persons genetic test you can treat them on the basis of their genetic profile and not on the law of averages. I can see a future where everybody has one of these tests done to help inform their future medications.

Pinnacle Ventures is part of the Pinnacle Group, a network of primary and community healthcare provides across the central North Island. Ultimately its aim is to build up the body of data around the New Zealand DNA, and it is partnering with key iwi groups, Auckland and Otago Universities, and the governments innovation agency Callaghan Innovation to develop a better understanding of how this countrys unique populations respond to different medications.

Auckland University pharmacogenomics expert Nuala Helsby says sending these test results directly to a health practitioner is the right approach.

Your genes are just one part of the story, and there is so much more going on with everything that you interact with in your environment. The whole of that process is what anyone whos prescribing has to think about all the time. Its the art of medicine.

Overseas, ancestry sites such as 23andMe also offer medical information, she says. They will genotype you, and certainly in the States I believe they can give you a health report on that. The problem is its too broad; you need the nuance of having the medical practitioner sat with you taking everything else into account.

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What I learned that broccoli can do to me when I got my DNA tested - The Spinoff

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

People should not make health decisions based on genetic tests they do at home, experts have warned.

The University of Southampton team,writing in the British Medical Journal, warn results can be unreliable.

The geneticists said the tests could be wrongly reassuring or lead to unnecessary worry.

23andMe, one of the companies offering tests, said there were many cases where results had prompted further checks and preventative treatment.

Prof Anneke Lucassen, president of the British Society for Genetic Medicine and a consultant in clinical genetics at University Hospital Southampton led the research.

She said: Genetic tests sold online and in shops should absolutely not be used to inform health decisions without further scrutiny.

Finding a health risk via these tests often does not mean a person will go on to develop the health problem in question, while reassuring results might be unreliable.

[T]he BMJ paper warns genetic tests often prioritise breadth over detail, citing a 23andMe test that checks for a few variants of Brca1 and 2, linked to breast and ovarian cancer risk, when there are actually thousands.

A 23andMe spokesman said its processes were extremely accurate and it spelt out exactly what its Brca test looked for.

Read full, original post: Genetic tests: Experts urge caution over home testing

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Consumer genetic tests shouldn't be used to make health decisions, experts warn - Genetic Literacy Project

James DeLine founded the Center for Special Children in La Farge to attend to the particular health needs of the Amish and Old Order Mennonite families in Wisconsin. The Center exists within the La Farge Medical Clinic, also started by DeLine, which is part of Vernon Memorial Health Care. Photo by David Tenenbaum

Editors note: A recent article in the Milwaukee Journal Sentinel reported on Dr. James DeLines work with the Wisconsin Amish community. This story describes how UWMadison and the Wisconsin Partnership Fund are helping the effort.

LA FARGE, Wisconsin There is no car in the driveway, neither phone nor electricity in the house. Handmade clothes dry on the line.

Its fall 2018, and La Farge physician James DeLine has brought us to talk with Barbara and Daniel Hochstetler, part of the large Amish population in Wisconsins Driftless Region.

Six of their 11 children live with siterosterolemia, an extremely rare disease that can cause joint damage, stroke or heart attack, due to accumulations of a plant-based fat akin to cholesterol.

DeLine has practiced family medicine in La Farge since 1983. In 2015 he started the Center for Special Children to care for Wisconsins large concentration of Amish or Old Order Mennonite people.

Rural doctors pride themselves on being able to treat a wide range of conditions in their patients, but DeLines practice brings him face to face with several rare genetic conditions that were present when the Amish and Mennonites immigrated from Europe to America and then Wisconsin.

And that, in turn, has brought DeLine into a close collaboration with specialists at the University of WisconsinMadison who have developed tests, and suggested treatments, for some of those conditions, including siterosterolemia.

Amish and Mennonite families avoid technologies that, they feel, would endanger the social cohesion that is key to their survival. Thus they do not own motor vehicles or use telephones or electricity in the home. Photo by David Tenenbaum

In quiet voices, DeLine and the Hochstetler parents recounted how they learned that the family carried a gene for the rare disease. Years previously, their son, Perry, had been seen at the La Farge clinic with painful arthritis and large lumps in his limbs. Later, when we discovered that a relative of his mother had sitosterolemia, DeLine explained, we thought back to this young man and with some searching, we found him, had gene testing done at UWMadison, and discovered that he too had the disease.

After starting medicine and changing his diet, Perrys elbow lumps began melting away, DeLine said. He has had no further arthritis, and his exercise tolerance has improved.

Eventually, with genetic testing at UWMadison, the mutation was diagnosed in six of the 11 Hochstetler children. Only then did Daniel volunteer that he had heart pain (likely just age catching up with me) during heavy exertion, was actually caused by a buildup of plaque in his heart arteries. After starting the same drug as his children, Daniel has improved, though he said he can still feel it once in a while if I exert myself.

DeLine has become an expert in the culture, family relationships, and medical needs of the Amish and Old Order Mennonites (sometimes called the Plain people).

Although their acceptance of technology is highly constricted by culture and religion, the Plain benefit from DeLines hybrid of 19th century rural doctoring with 21st century genetic medicine.

Chris Seroogy, professor of pediatrics at UWMadison, is a long-time collaborator in the effort to bring 21st century health care to Wisconsins Plain populations. Photo by Robert C. Thayer

The genetic work has relied on clinicians from the School of Medicine and Public Health, and on testing at the State Laboratory of Hygiene, both at UWMadison. The State Lab has already developed fast, low-cost diagnostic tests for more than 30 conditions afflicting Plain populations in Wisconsin.

Vanessa Horner, director of cytogenetic services and molecular genetics at the State Lab, said that once a test has been developed and validated, it becomes a clinical assay that must be performed in a certified laboratory such as hers. Its a highly regulated, rigorous testing environment.

Funding for these tests and related activities came from grants totaling $800,000 from the Wisconsin Partnership Program in the School of Medicine and Public Health. Addressing the health care needs of Wisconsin communities is a priority for the Wisconsin Partnership Program, said Richard Moss, chair of the partnership education and research committee.

This teams innovative and successful community-engaged research has resulted in increased newborn screenings and affordable genetic testing that have the potential to spare our states Plain families from fatal medical conditions and costly hospitalizations, added Moss, senior associate dean for basic research, biotechnology and graduate studies.

One newborn screening test created at UWMadison, for example, detectsmaple-syrup urine disease, whichprevents the normal breakdown of certain amino acids from food. Then, toxic byproducts attack the brain and other organsimmediately after birth.

According to Mei Baker, co-director of newborn screening at the State Laboratory of Hygiene, which developed the test, We make special arrangements for lab testing beyond regular working hours. The midwife collects a blood sample and a hired driver delivers it immediately to our lab. Six or eight hours after birth, we have the result, and the clinicians at Waisman Center advise the parents on an appropriate formula to avoid the symptoms.This service is free of charge, and you cannot do any better than that.

This team hauls logs and saw timber at the Hershberger family sawmill outside La Farge, Wisconsin. Photo by David Tenenbaum

Genetic diseases among the Plain arise from founder mutations that were present in the few Amish and Old Order Mennonites who immigrated to America in the 19th century. A second genetic bottleneck occurred among smaller groups that moved to Wisconsin, starting about a century ago.

Most of the genetic diseases he sees can be treated if not cured, DeLine said.

DeLines long and deep experience with many Amish families, and his anthropological knowledge of family relationships are part of his doctors toolkit.

So are home visits.

He talks about how helpful it is to see a child in the home environment, surrounded by siblings, grandparents, parents, said Christine Seroogy, a professor of pediatrics. Seroogy is one of several UWMadison colleagues who provide outreach clinical services with the Center for Special Children. Its been quite an experience, an honor, to take part in those home visits.

The characteristic homemade clothes of an Amish family hang just inside the back door. Photo by David Tenenbaum

Home visits were not part of my medical training, but its how doctors used to practice, and Jim DeLine still does, she added.

When Seroogy began working with DeLine in 2007, one focus was severe combined immune deficiency (SCID, or bubble boy) disease. Though fatal, SCID can be detected with newborn screening and in some cases treated with bone marrow transplant. Over the years, she has worked closely with DeLine, newborn screening experts at the State Laboratory of Hygiene, and Plain families to improve SCID diagnosis and treatment.

In many cases, a true diagnosis can keep patients out of hospitals and away from physicians who tend to order an endless series of costly tests that cause more trouble than healing.

When we must deliver news about a child with a lethal disorder, DeLine said, if the family knows whats going on, sad though it is, its a gift to the family to take the child home and care for them surrounded by their community and their family.

Its hard to treat something you dont recognize, understand, DeLine added. Each time a new condition is identified, the search for a cure can begin.

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21st century medicine helps Amish deal with rare, inherited illnesses - University of Wisconsin-Madison

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive." Myriad Genetics hide caption

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive."

As a teenager, Katie Gruman was prescribed one mental health drug after another. None seemed to help her manage symptoms of anxiety and bipolar disorder, so she self-medicated with alcohol and illicit drugs.

It would take five years, and trying more than 15 different medications, before she found meds that actually helped.

Now 28 and in recovery, Gruman has been on the same drugs for years. But when a clinician recommended a genetic test to see which drugs work best for her, she took it.

Reading the test results "was definitely vindicating," she says. Medications that hadn't worked for her as a teenager were the same ones the results marked as bad fits.

She says she wishes she had taken the test as a teenager. "I could have avoided a lot of disaster in my life," she says.

Psychiatric medications are known to be hard to match to symptoms, and many patients like Gruman live through years of trial and error with their doctors.

Companies that make genetic tests like the one Gruman used say they can save patients and doctors from prolonged searching for the right medication and save insurance companies from paying for ineffective drugs. But many researchers say the tests don't have enough evidence backing them up. The Food and Drug Administration has warned that the tests could potentially steer patients towards the wrong medications. Nonetheless, UnitedHealthcare, the nation's largest insurer, began covering them October 1 for its 27 million individual and group plans.

Test makers hailed the announcement of United's coverage, the first from an insurance company to apply to all of its commercial plans across the country.

"We expect this to be a tipping point," says Shawn Patrick O'Brien, CEO of Genomind, a company that makes one of the tests. Other insurers will cover the tests "because they don't want to be uncompetitive in the marketplace," he predicts.

If the prediction is correct, it would likely fuel a market that has seen its largest test maker, Myriad Genetics, sell about 375,000 of its psychiatric medicine tests in the 2019 fiscal year, according to Jack Meehan, an industry analyst for Barclays. Myriad reported that it sold $113 million worth of the tests.

In addition to UnitedHealthcare's coverage, Myriad Genetics' test is covered by Medicare, a regional Blue Cross Blue Shield affiliate, and the insurance network for the grocery chain Kroger, a spokesperson says.

Genomind has discussed coverage with insurers including Anthem and Blue Cross Blue Shield, O'Brien says.

Debates over efficacy

As the field of genetic testing to help diagnose and treat disease grows, medicine has embraced certain tests, such as that for the BRCA gene linked to breast cancer. But many researchers say there is not enough evidence tying genetic variants to better outcomes for most psychiatric medications.

James Potash, the head of psychiatry at Johns Hopkins Medicine and an expert on psychiatric genetics, says of all the tests claiming to improve depression treatment, GeneSight's has the most proof. That isn't saying much, though.

"I wouldn't say there's no evidence that it works," he says. "It's just the evidence at this point is still weak."

The idea behind the tests is that in some cases, people can have different reactions to the same drug, even at the same dose, because they have different gene variants. Which variant a person has can affect how quickly or slowly a medicine moves through their body.

This link between genes and drug metabolism has been known for decades, says Francis McMahon, who leads genetic research into mood and anxiety disorders at the National Institutes for Mental Health.

Usually, the longer it takes your body to process a drug, the easier it is for that medication to have an effect. But in psychiatry, McMahon says, how fast someone processes a drug, or metabolizes it, and how well they respond to the drug "are sometimes not strongly related."

This skepticism is shared by some insurance companies. "Anthem considers these tests investigational and not medically necessary," says a spokesman for the carrier, which covers 41 million people. The Blue Cross Blue Shield Federal Employee Program, which covers about two-thirds of government workers and their families, said "there is not enough evidence at this time to determine the effect of genetic testing on health outcomes," according to a spokeswoman.

Test makers are also facing FDA objections that they haven't proven some of the claims underpinning genetic tests for medications, including that antidepressants work better with some gene variants.

"Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient," the agency warned in late 2018. It told companies to stop naming specific drugs, in marketing materials or test results, for which its tests "claim to predict a patient's response" without "scientific or clinical evidence to support this use."

Most test makers complied. One, Inova Genomics Laboratory, stopped selling a range of tests, including its test for mental health disorders, after the FDA followed up with a warning letter in April.

Several mental health advocacy groups, including the National Alliance on Mental Illness, have sided with test makers in their dispute with the FDA. Keeping the names and types of medication off of genetic test reports, as the FDA has required, will "impede the ability of psychiatrists and other front-line health care professionals to personalize medication decisions" for patients with depression, the groups wrote the FDA in September.

Some have argued that genetic tests like these shouldn't be regulated by the FDA at all. Tests conducted in a lab are a medical service, not a medical device that's shipped like a product, says Vicky Pratt, president of the Association for Molecular Pathology. As a medical service, she says, clinical laboratories are already regulated by the Centers for Medicare and Medicaid Services.

"It would be redundant to have dual regulation by both the FDA and CMS," says Pratt.

Cost-benefit analysis

Research into the tests' efficacy is ongoing and continues to be debated.

Myriad hoped to bolster evidence for its test, GeneSight, in a study it funded that was published this year in the Journal of Psychiatric Research, but the results were mixed.

In the study, doctors used genetic tests to help prescribe medications for one group of patients with depression, while another group of patients received usual care. There was overall no difference between the groups in the study's primary measure of symptom improvement, though some patients showed improved response and remission rates.

Responding to criticisms of its clinical trial results, Myriad Genetics spokesman Ron Rogers says the trial population whose average participant had tried more than three unsuccessful medications for depression was uniquely difficult to treat. He says he expects to see stronger outcomes in a forthcoming review of the trial data.

In a statement on the use of genetic testing in psychiatry, the International Society of Psychiatric Genetics, calls the existing evidence "inconclusive," and notes that if 12 patients take such a test for antidepressants, just one will benefit from it.

A low rate of success means insurers will have to pay for a lot of tests for one useful result, says Barclays analyst Meehan. Meehan pointed to a letter about the recent GeneSight study that was published in the same journal, which found that 20 patients would need to take the test for one to recover as a result. At $2,000 for a GeneSight test, the authors wrote, that means patients and insurers would have to cover $40,000 worth of tests. (While competitor Genomind does not share pricing information, a spokeswoman confirmed that it has an active contract with the Department of Veterans to supply tests for $1,886.)

Still some clinicians value the tests. Skeptics often misunderstand how the tests should be used, argues Daniel Mueller, a professor at the University of Toronto who researches how genes and drugs interact. (Mueller is involved in research comparing Myriad's GeneSight to another test developed by a University of Toronto-affiliated hospital.) Most of the time, he says, doctors who order the test already plan to prescribe medication. The test is just another tool to help them decide which one to prescribe.

"It's not an alternative intervention," Mueller says. "It's additional information." He orders the test for most patients who do not respond to at least one antidepressant.

"If you think about the cost of depression and weeks of suffering that you can potentially avoid for some patients," Mueller says, he thinks anyone who can afford a test should take it. (Myriad says 95% of patients pay less than $330 for their test, the cost remaining after insurance and possible financial assistance; Genomind says most privately insured customers pay no more than $325.)

A lack of watertight evidence for the tests should not stop doctors from using it to inform their choice of medication, says Reyna Taylor, who leads public policy for the National Council for Behavioral Health, one of the advocacy groups that defended the tests in a letter to the FDA. "You use the science that you currently have," she says.

"Whether our providers choose to use [a genetic test] or not, we want them to have that choice," she adds.

Disagreement among experts hasn't dissuaded UnitedHealthcare from paying for the tests.

In a statement, UnitedHealthcare spokeswoman Tracey Lempner says they "frequently review our coverage policies to ensure they reflect the most current published evidence-based medicine and specialty society recommendations."

Graison Dangor is a journalist in Brooklyn.

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Genetic Tests For Psychiatric Drugs Now Covered By Some Insurers : Shots - Health News - NPR

HOUSTON, Oct. 17, 2019 /PRNewswire/ -- Researchers fromInvitae Corporation (NYSE: NVTA), a leading medical genetics company, are presenting data showing the increasing utility of genetic information at the American Society of Human Genetics (ASHG) annual meeting this week, ranging from comprehensive screening for cancer patients, to appropriate clinical follow up for women using non-invasive prenatal screening, to the limitations of direct to consumer genetic screening health reports.

The company's research includes three platform presentations and multiple poster sessions, many performed in collaboration with leading academic researchers. Among the data presented is a study evaluating the utility of combined germline testing and tumor profiling (somatic testing) in cancer patients. Germline and somatic testing are increasingly used in precision treatment of people with cancer, although frequently are ordered separately in clinical practice. Data presented at the meeting shows a substantial number of patients with medically significant variants in hereditary cancer syndrome genes in their tumor profile carry the same variant in their germline, thereby establishing a previously unknown risk of hereditary cancer and suggesting the value of combined or concurrent testing to inform precision medicine approaches.

"The research we are presenting at this year's ASHG meeting provides meaningful insight into both the science and practice of genetics, helping identify how we as clinicians can better use deep genetic insights to help a wide array of patients, whether they are cancer patients, women having a child or healthy adults seeking to better understand their risk of disease," said Robert Nussbaum, M.D., chief medical officer of Invitae. "We are proud and grateful to be able to join our colleagues from across genetic medicine in meaningful conversations that push genetic medicine forward."

Following are research from the company and collaborators to be presented at the meeting:

Wednesday, October 16:

Poster presentation #819W | 2:00 3:00 pm Germline testing in colorectal cancer: Increased yield and precision therapy implications of comprehensive multigene panels. Presented by Shan Yang, PhD. Invitae.

Poster presentation #2427W | 2:00 3:00 pm Harmonizing tumor sequencing with germline genetic testing: identification of at-risk individuals for hereditary cancer disorders. Presented by Daniel Pineda-Alvarez, MD, FACMG, Invitae.

Poster presentation #606W | 3:00 4:00 pm A comprehensive evaluation of the importance of prenatal diagnostic testing in the era of increased utilization of non-invasive prenatal screening. Presented by Jenna Guiltinan, MS, LCGC, Invitae.

Thursday, October 17:

Platform presentation #235 | 5:00 pm, Room 370A, Level 3 Limitations of direct-to-consumer genetic screening for hereditary breast, ovarian and colorectal cancer risk. Presented by: Edward Esplin, MD, PhD, FACMG, FACP, Invitae.

Poster presentation #763T | 2:00 3:00 pm In-depth dissection of APC pathogenic variants: Spectrum of more than 400 pathogenic variants, challenges of variant interpretation, and new observations in a large clinical laboratory testing cohort. Presented by: Hio Chung Kang, PhD, Invitae.

Poster presentation #1399T | 2:00 3:00 pm Prediction of lethality and severity of osteogenesis imperfecta variants in the triple-helix regions of COL1A1 and COL1A2. Presented by: Vikas Pejaver, PhD, University of Washington.

Friday, October 18:

Platform presentation #264 | 9:00 am, Room 361D, Level 3 Million Veteran Program Return Of Actionable Results - Familial Hypercholesterolemia (MVP-ROAR-FH) Study: Considerations for variant return to mega-biobank participants. Presented by Jason Vassy, MD, MPH, VA, Boston Healthcare System.

Platform presentation #265 | 9:15 am, Room 361D, Level 3 Comprehensive secondary findings analysis of parental samples submitted for exome evaluation yields a high positive rate. Presented by Eden Haverfield, DPhil, FACMG, Invitae.

Poster presentation #698F | 2:00 3:00 pm Reporting of variants in genes with limited, disputed, or no evidence for a Mendelian condition among GenomeConnect participants. Presented by: Juliann Savatt, MS, LGC, Geisinger.

About InvitaeInvitae Corporation(NYSE: NVTA)is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the increasing utility of genetic information; the utility of combined germline and somatic testing; and the benefits of the company's research. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the applicability of clinical results to actual outcomes; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelopr@invitae.com(628) 213-3283

View original content to download multimedia:http://www.prnewswire.com/news-releases/research-presented-by-invitae-at-the-american-society-of-human-genetics-meeting-pushes-science-and-practice-of-genetics-forward-300940213.html

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Research presented by Invitae at the American Society of Human Genetics Meeting Pushes Science and Practice of Genetics Forward - P&T Community

Louisiana-based Ochsner Health System is partnering with Color to launch a population health pilot program, tyinggenetic information into preventive care.

Calling it the first "fully-digital population health program," Ochsner will work with the health technology company to incorporateclinical genomics into primarycare with a focuson impacting patients' health further downstream.

Developed by Ochsners innovation lab, innovationOchsner (iO), the health systems program willidentify patients who are at higher risk for certain hereditary cancers and heart disease so these diseases can be detected early or prevented.

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This marks another big partnership for Color this year. The company inked a similar collaboration with Chicago-based NorthShore University HealthSystem, called DNA10K, that will provide more than10,000 NorthShore patients access to Colors clinical-grade genetic testing and whole genome sequencing.Atthe time, it was touted as the largest primary care genomics program in the U.S.

RELATED:Mount Sinai to launch $100M center dedicated to AI, precision medicine

Physician practices are beginning to incorporate genomics into primary care as well.Murfreesboro Medical Clinic and SurgiCenter in Tennessee are working with technology company2bPrecise, a subsidiary of health IT company Allscripts, to integrate pharmacogenomic testresults at the point of care.

In August, Color was awarded a $4.6 million grant by the National Institutes of Health to serve as the nationwide genetic counseling service for its All of Us Research Program.

With this pilot program, Ochsner is focused on screening patients with genetic mutations that put them at increased risk for three conditionshereditary breast and ovarian cancer syndrome due to genetic mutations in the BRCA1 and BRCA2 genes; Lynch syndrome,associated with increased risk in colorectal, endometrial, ovarian and other cancers; and familial hypercholesterolemia (FH), which increases the risk for heart disease or stroke.

The Centers for Disease Control and Prevention reports thatnearly 2 million people in the U.S. are at increased risk for adverse health outcomes because they have genetic mutations with one of thosethree conditions.

Genetic screening can make a meaningful difference to patients through early detection and screening. Most consumers have access to home genetic screening tests but may not have the tools, resources, and collaboration needed to take action should they receive questionable results, said Richard Milani, M.D., chief clinical transformation officer for the Ochsner Health System and medical director for iO.

RELATED:How a Nashville-area clinic teamed up with Allscripts on precision medicine

Ochsner provides patient care across40 owned, managed and affiliated hospitals and specialty hospitals and more than 100 health centers and urgent care centers.The partnership will combine Colors capabilities inmedical-grade genetics, clinical services and patient engagement and the health system's experience withpersonalized medicineand integrating it into routine patient care, the organizations said in a press release.

As part of the program, selected patients will be enrolled into the program digitally and will receive access to genetic testing and counseling.Genetic testing results will bestored in the patients Epic electronic health record so patients and providers have access to the genetic information.

RELATED:UCLA Health deploys Microsoft Azure to accelerate medical research, precision medicine at the point of care

Ochsner also has developed clinical decision support tools and a robust provider education program for both primary care and specialty providers to integrate into clinical practice.

New technology tools like clinical genomics will enableOchsner physicians to better understand individualized risk among its patient population and create action plans that can detect or prevent disease, according to the health system.

We know there are many factors that influence health, and genetic insights provide an additional data point to allow us to develop and deliver a more personalized approach in partnership with our patients," Milani said.

"Integrating this information into the patients electronic health record so doctors can review the results and discuss proactive treatment recommendations is yet another example of how we are reengineering care, informing smarter decisions by healthcare providers and empowering patients to become more involved in their health," he said.

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Ochsner Health System teaming up with genetic testing company Color on population health pilot - FierceHealthcare