Category Archives: Genetic Medicine

Aniridia is a congenital disorder that causes severe eye problems, and also affects metabolism sometimes resulting in severe obesity. It is associated with mutation of a major developmental gene, called PAX6. People born with aniridia have no irises in their eyes, often are legally blind, and whatever eyesight they have continually worsens with age. The disease is uncommon, but disorders associated with genetic mutations can involve common eye problems, including cataracts and glaucoma.

To better understand and treat aniridia and other disorders involving the PAX6 gene, researchers and clinicians at the University of Virginia are combining clinical research, patient treatment and powerful basic science investigations.

They have organized for this weekend a major symposium focused on congenital eye disorders and the PAX6 gene, bringing together top researchers from the University and around the nation and Europe, along with patients living with aniridia and their families.

The organizers are Rob Grainger, W.L. Lyons Brown Professor of Biology, and Dr. Peter Netland, Vernah Scott Moyston Professor and Chair of Ophthalmology. Both are members of UVAs Brain Institute, and are research collaborators.

In his studies, Grainger uses frogs that are mutated to mimic aniridia and other eye disorders. Netland treats congenital eye disorders and conducts clinical research.

Here, the two colleagues explain for UVA Today readers their research and the goals of the 2019 John F. Anderson Symposium, Aniridia-PAX6 and Beyond

Q. Why did you organize this particular kind of symposium, connecting how eyes develop before birth and genetic diseases that can follow?

Grainger: Each of us works on different perspectives concerning eye formation. In my lab, we focus on how the eye is constructed during embryonic development; in Peter Netlands practice, on how to treat diseases that affect these processes.

These are complementary approaches two sides of the same coin. In one case we focus on the assembly of the eye, and in the other, what occurs when the eye is not constructed properly, leading to multiple serious consequences for the patient.

This interplay highlights the importance of looking at these two perspectives together, a collaboration in this case between the two of us (one in the School of Medicine and the other in the College of Arts & Sciences) each providing insights for the other.

Netland: The value of this kind of interaction has motivated us to bring together many of the worlds experts who pursue these two perspectives, including as well a third group: patients and their families who want to learn more about these diseases and treatments. There are few meetings held with this sort of three-way interaction in mind, and we anticipate that many fruitful insights and collaborations will emerge.

Q. Dr. Netland, why is aniridia an area of particular interest to you?

Netland: More than 20 years ago, I spent an extended period of time in the Middle East and India, where there are high rates of consanguinity and congenital eye disorders, which led to a book I produced about pediatric glaucomas, other scholarly contributions and development of my clinical skills. About 20 years ago, I cared for an infant with aniridia and the family of that patient. The potentially disabling issues for the patient, which involved all parts of the eye, and the compelling issues that the family were dealing with drew me toward this condition.

Another patient was very influential to me, because she was a patient advocate and mother of an affected child. I began to see increasingly larger numbers of patients with congenital eye disorders and aniridia, and I developed further clinical and academic interests in the topic.

Around 20 years ago, we started biannual meetings with the patient advocacy group Aniridia Foundation International, and developed connections with other patient support groups, which helped shape the direction of our efforts. With increasing contact with the patients and their families, I became deeply interested in trying to help these patients.

About 20 years ago, I cared for an infant with aniridia and the family of that patient. The potentially disabling issues for the patient, which involved all parts of the eye, and the compelling issues that the family were dealing with drew me toward this condition.

- Dr. Peter Netland

This is a disease that results from damage to the gene PAX6, already known to be perhaps the most fundamental gene involved in eye formation overall and consequently affecting the entire visual system. However, we knew much less about how to treat the many facets of this disorder; for example, cataract, glaucoma and corneal opacification (scarring), which are frequently acquired by patients. Some of these problems are common in the general population, and have broad significance. Many advances have been made in the past, but there is much more progress that is needed for the future.

Q. Why do you use frogs in your eye research, Professor Grainger?

Grainger: We have been examining eye development in frog embryos for over 20 years in my lab, initially because so much embryology, going back to the beginning of the 20th century, was done on these large, easy-to-obtain-and-raise embryos.

In the early days, we were learning how the different parts of the eye, notably the lens and retina, are formed by interactions between parts of the embryo to form a coordinated whole organ exactly the interactions that are disturbed when things go awry in aniridia patients.

Q. Six years ago the Grainger lab developed a gene-editing technique that allows you to mimic human lesions. How is this advancing eye research?

Grainger: While the utility of the frog system for understanding embryological processes is undisputed, during the decades that we have been doing research, the techniques allowing us to manipulate and understand gene function have blossomed, including genome projects and more recently gene editing the ability to inactivate genes of interest to learn how they function during normal development.

In 2013, we published our first paper using this new technology to inactivate genes critical for eye formation in frogs and to follow in precise detail how things go awry. This has allowed us to make important clarifications in how these genes contribute to development of the eye. Because the frog eye develops much as the human eye, these mutations help us look in detail in a way not feasible in human embryos; thereby allowing us to understand how these genetic errors lead to the problems that occur in human patients. Specifically, we have made mutations in frogs in the PAX6 gene that lead to frogs having aniridia, with features of the animals strikingly similar to those in human patients.

These are complementary approaches two sides of the same coin. In one case we focus on the assembly of the eye, and in the other, what occurs when the eye is not constructed properly, leading to multiple serious consequences for the patient.

- Robert Grainger

Q. What kind of clinical research and therapies are UVA conducting that connect with the basic research?

Netland: We have looked at many of the vision-threatening eye problems in our aniridia patients. We have also found that their mutation is linked with obesity, and have performed clinical trials to evaluate the causes of this. We have performed studies to better understand the mechanisms for some of their clinical problems, such as glaucoma.

We are excited about precision medicine trials identifying patients who can benefit from a specific gene-based therapy and we recently completed a two-year clinical trial evaluating targeted gene therapy. In parallel, similar problems are under study in the frog to complement and build on the work with human patients.

Q. What future do you see for patients with eye disease as this research moves forward?

Netland: We are working with patients with known mutations of a specific gene, so naturally we are excited about precision medicine approaches to these patients. We believe that genetic-based approaches will continue to increase understanding of these diseases and will provide the basis for rational therapy for affected patients, and more broadly for others in the general population who are suffering from the same clinical problems. We believe that new imaging techniques will produce new insights in this area.

Grainger: In the frog, our lab has developed a method for efficiently creating exact patient mutations, again amplifying the opportunities for an integrated approach to precision medicine. There are opportunities with in situ gene modification and other gene-based therapies for addressing problems and improving the quality of life of patients.

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Patients, Physicians and Researchers Gather to Probe Genetic Eye Disorders - University of Virginia

SALT LAKE CITY, Nov. 01, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that three studies on Vectra will be featured at the 2019 American College of Rheumatology (ACR) Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA.

"We are excited to share important new data that demonstrates how precision medicine can advance care for people with rheumatoid arthritis (RA)," said Elena Hitraya, M.D., Ph.D., rheumatologist and chief medical officer at Myriad Autoimmune. "Our studies show that Vectra, an objective measure of RA inflammation, helps identify people with RA that are at risk of joint damage and cardiovascular risk.

A list of presentations at 2019 ACR is below. Please visit Myriad Autoimmune at booth #1419 to learn more about Vectra. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #ACR19.

Abstract

Author

Poster Details

Vectra

Predicting Risk of Radiographic Progression for Patients with Rheumatoid Arthritis

Jeffrey Curtis

Joshua Baker

Jeffrey Curtis

About VectraVectra is a multi-biomarker molecular blood test that provides an objective and personalized measure of inflammatory disease activity in patients with rheumatoid arthritis. Vectra provides unsurpassed ability to predict radiographic progression and can help guide medical management decisions with the goal of improving patient outcomes. Vectra testing is performed at a state-of-the-art CLIA (Clinical Laboratory Improvement Amendments) facility. Test results are reported to the physician five to seven days from shipping of the specimen. Physicians can receive test results by fax or the private web portal, VectraView. For more information on Vectra, please visit: http://www.vectrascore.com.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the American College of Rheumatology Annual Meeting being held Nov. 8-13, 2019 in Atlanta, GA; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics Announces Multiple Presentations at the 2019 American College of Rheumatology Annual Meeting - BioSpace

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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Soon, genetic testing for cancer treatment could match you with the perfect drug - NorthJersey.com

Every week there are numerous scientific studies published. Heres a look at some of the more interesting ones.

The Role of the Mysterious Microproteins

Genes code for proteins. Prior to the Human Genome Project, the Central Dogma was that one gene coded for one protein. And since there were about 100,000 known proteins, scientists believed there were 100,000 human genes. But there werent, there were about 20,000 genes and proteins are created by reading those genes in various waysfrom beginning to end, backwards, starting in the middle, etc. Now researchers are increasingly finding what are called microproteins, which have fewer than 100 amino acids, and are discovering that they microproteins may have more fundamental effects on cellular processes than previously thought.

Researchers with the Salk Institute published research in the journal Nature Communications on the role of 54-amino acid microprotein PIGBOS and how it mitigates cell stress.

The study is exciting because cell stress is important in a number of different diseases, including cancer and neurodegeneration, said Alan Saghatelian, co-corresponding author of the research. By understanding the mechanisms behind these diseases, we think well have a better shot at treating them.

The researchers used a technique called split GFP to tag the microprotein, which was too small for the more traditional green fluorescent protein (GFP) tags. While mapping PIGBOs location, they found that it rests on the outer membrane of the mitochondria, which puts it in position to make contact with proteins on other organelles. They found that it interacted with another protein, CLCC1, which is part of the endoplasmic reticulum (ER) and communicates with CLCC1 to regulate stress in the ER.

PIGBOS represents one of a limited set of microproteins that anyone has gone through the effort to characterize, said co-corresponding author Uri Manor, director of the Waitt Advanced Biophotonics Core Facility at Salk. And lo and behold it actually has a very important role.

Natural Monkey Mutation Provides Model for Rare Human Blindness

Researchers identified a mutated gene in three rhesus monkeys that is associated with Bardet-Biedl Syndrome (BBS), a rare genetic disease that causes childhood-onset blindness. The science team indicates it is the first naturally occurring case of a nonhuman primate model of the syndrome and could lead to potential treatments. The BBS genes encode proteins for the function of cilia. Models of BBS have been developed from rodents, fish and roundworms, but they are not as closely related to human eyes as primate models.

Newly Found Antibody Could Be Basis of Universal Flu Vaccine

Researchers at The Scripps Research Institute, the Washington University School of Medicine in St. Louis and Icahn School of Medicine at Mount Sinai in New York identified an antibody that protects mice against a wide range of flu viruses. The antibody binds to the protein neuraminidase, which flu viruses require to replicate in the body. It is located on the surface of the virus. Tamiflu, the best-known drug to fight flu, inactivates neuraminidase. But there are numerous types of neuraminidases. This antibody could be the foundation of a universal flu vaccine.

Neural Activity and Longevity

A protein called REST has previously been shown to protect aging brains from dementia and other neurodegenerative diseases. Now researchers have identified REST as essential in a molecular cascade related to aging. The study found that excessive brain activity in humans, mice and worms is associated with shorter life spans. Suppressing that overactivity extends life. REST is part of a signaling cascade that includes the insulin and insulin-like growth factor (IGF) pathway. Its not clear on whether or how a persons thought, personality or behavior, within this context, affects longevity.

A Smell Test for Alzheimers Disease?

People who performed well on a test measuring cognitive ability and another to identify odors were linked to very low risk of Alzheimers disease. The tests have previously been shown to help predict the risk of developing dementia, but this study suggests the tests could help rule out people unlikely to develop Alzheimers. The researchers analyzed data from 749 adults with mild cognitive impairment without dementia who had completed a cognitive screening test and a 40-item smell identification test. They were then followed for four years to find whether they were later diagnosed with Alzheimers or other dementias. During that period, 109 people developed dementia with most diagnosed with Alzheimers. But the research found that 96.5% of the participants who performed well on both tests did not develop dementia during the study period.

Anti-inflammatory Drugs Can Decrease Major Depressive Symptoms

A pooled analysis found that anti-inflammatory agents like aspirin/paracetamol, statins, and antibiotics can curb symptoms of major depression. The effects are even stronger when the anti-inflammatories are given in combination with standard antidepressants. Previous studies of anti-inflammatories to treat depression were inconclusive, but this pooled analysis of 26 of 30 relevant randomized controlled trials involving 1,610 people suggested the anti-inflammatories were better than placebo and improved the effects of standard antidepressants.

Medicinal Cannabinoids Dont Improve Mental Health

Researchers analyzed the impact of medicinal cannabinoids on six mental health disorders from 83 studies including 3,000 people. They found that the use of cannabinoids cant be justified based on the current evidence. The conclusion was based on lack of proof of effectiveness and the known risks of cannabinoids. The medicinal cannabinoids include medical cannabis and pharmaceutical cannabinoids and their synthetic derivatives, THC and CBD. The six mental health disorders in adults were: depression, anxiety, attention-deficit hyperactivity disorder (ADHD), Tourette syndrome, post-traumatic stress disorder (PTSD), and psychosis.

How a Key Gene Linked to Familiar Alzheimers Functions

A gene that is mutated in familial Alzheimers disease is called presenilin. Although linked to the disease, it wasnt completely understood how this functioned. A research group found that the malfunction in this gene causes the abnormal accumulation of beta-amyloid in the brain. Presenilin is not only essential for regulating neuronal growth, but it does so through the EphaA3 receptor, a protein linked to several cancers.

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Research Roundup: What Are Microproteins and What Do They Do and More - BioSpace

Fighting Blindness Canadas secure, clinical patient registry is a database dedicated to connecting people living with retinal eye diseases to clinical trials and research.Paffy69 / PNG

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My doctoral dissertation at the University of B.C. was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

Ruanne Vent-Schmidt is a PhD candidate in cell and developmental biology at the University of B.C.This article originally appeared online at theconversation.com, an independent source of news and views, from the academic and research community.

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Ruanne Vent-Schmidt: The blind and visually impaired can help researchers by getting their genes tested - Vancouver Sun

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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