Category Archives: Genetic medicine

MONTREAL A "surprising" and "provocative" study of two cohorts of women who developed peripartum cardiomyopathy (PPCM) in Canada and in the United States suggests that socioeconomic factors differences in the healthcare systems rather than genetics may explain racial disparities in outcomes.

The findings should be viewed as only hypothesis-generating, the authors caution.

Maxime Tremblay-Gravel, MD, from Universit de Montral, Canada, who is now a heart failure fellow at Stanford University, Palo Alto, California, presented findings from a study that involved 114 women in Canada and the United States (including 24 African Americans) who developed PPCM. The study was presented here at the Canadian Cardiovascular Congress 2019.

"It's been pretty accepted in the literature...that African American women who have PPCM have a worse prognosis," Tremblay-Gravel told theheart.org | Medscape Cardiology.

But contrary to previous research, their study showed that in Canada, recovery of left ventricular ejection fraction (LVEF) among black women after PPCM was similar to that among women of other ethnicities.

On the other hand, LVEF recovery among the African American women in the American cohort was dampened, consistent with prior findings.

"I don't think African American women are different between the United States and Canada," said Tremblay-Gravel. He noted that it's probably the healthcare delivery that's different.

This is "clearly only a hypothesis," he continued, but many socioeconomic factors may explain why African American women with PPCM in the United States fared worse than their counterparts in Canada.

In the United States, women who developed PPCM may have had "less insurance, less education, [and] less trust in the medical care system...whereas here, we have a universal healthcare system."

This is very topical, he noted, as candidates for the Democratic Party leadership are proposing that the United States adopt Medicare for all, "which is basically a system that would be a little bit more similar to Canada."

"This small study is interesting and provocative in suggesting both that the differences in outcomes between African American vs nonAfrican American women relates to socioeconomic status rather than race and that healthcare in Canada addresses these issues better than in the US," Zolt Arany, MD, PhD, Perelman School of Medicine, University of Pennsylvania, Philadelphia, told theheart.org | Medscape Cardiology in an email.

Arany, who was senior author of a previously reported US study involving 121 African American and 99 nonAfrican American women with PPCM, cautioned that "the numbers are very small, however, making a false positive conclusion not unlikely, and larger studies are needed."

The findings "indicate that the differences in genetic background are not the main reasons for differences observed in LV recovery," Johann Bauersachs, MD, professor and director of the Department of Cardiology and Angiology, Hannover Medical School, Germany, told theheart.org | Medscape Cardiology in an email

Bauersachs, who wrote a commentary that accompanied the article by Arany and colleagues, agreed that the cohorts in the current study were small.

However, PPCM is rare, and "even the US, 'big' Investigations of Pregnancy-Associated Cardiomyopathy (IPAC Study)," he noted, "report on only a few more than 100 patients.

"I suspect," he suggested, that black women "have better access to healthcare services in Canada than African Americans in the US."

According to Bauersachs, the results "clearly indicate that all efforts should be made to guarantee the same optimal care for African American as for nonAfrican Americans with PPCM, both in the acute and the chronic phases."

He is lead author of a recently published position statement from the Heart Failure Association of the European Society of Cardiology that summarizes diagnosis and optimal care for patients with suspected PPCM.

Peripartum cardiomyopathy is "a potentially life-threatening condition typically presenting as heart failure with reduced ejection fraction (HFrEF) in the last month of pregnancy or in the months following delivery in women without another known cause of heart failure.

"It is a very rare disease, affecting 1 in 4000 young women who are pregnant," Tremblay-Gravel noted.

"Most women recover, but some don't," he said, "and it's a very underrecognized disease.

"As shortness of breath, fatigue, and leg [edema] are common in the peripartum period, a high index of suspicion is required to not miss the diagnosis," the authors of the European position paper advise.

"We were interested in knowing whether being an African American portends a worse prognosis because of socioeconomic factors or because the disease itself is worse in African Americans," Tremblay-Gravel said.

The Canadian cohort comprised 62 women, including 16 African American women (35%), who were treated for PPCM in hospitals in the province of Quebec during 19942015.

The American cohort consisted of 52 women with PPCM, including eight African American women (15%), who were seen at Stanford Hospital during 19912017.

The mean ages of the women in each of the cohorts were similar, at around 32 years.

In the Canadian cohort, improvements in LVEF were similar among African American and nonAfrican American women, from 30% to 55% and from 28% to 52%, respectively (P = .27).

In the American cohort, improvement in LVEF among the nonAfrican American women was similar to that of the Canadian women (going from around 30% to 50%), although for African American women, recovery of LVEF function was less (from around 25% to 38%; P = .02).

The next steps in their ongoing research, Tremblay-Gravel said, is to see whether insurance coverage and social status (estimated from ZIP codes) play a role in prognosis. They are also performing whole-exome sequencing for more than 100 women with PPCM to see whether African American women have a different genotype.

Canadian Cardiovascular Congress 2019: Abstract 060, presented October 24, 2019.

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Peripartum Cardiomyopathy Recovery in Blacks Better in Canada? - Medscape

Dylan Stoll |Health Editor

Featured Image:Olaparib discovered to have stopped the spread of prostate cancer in patients than standard treatments. |Courtesy of Pixabay

With the recent start to the Movember month of prostate cancer awareness, it is fit to recognize the newfound use for olaparib a precision drug used to treat prostate cancer and the incredible results it has shown in its third phase of randomized clinical trials.

The trial involved 400 men split into two groupings based on their genetic mutations. The first group had mutations in the genes referred to as BRCA1, BRCA2, and ATM, while the second group had mutations in select genes involved in DNA repair.

The aim of the trial was to compare how effective olaparib was at fighting prostate cancer compared to the standard treatments used today. Overall, it was found that olaparib halted the cancers spread in more patients than standard treatments by approximately 8.5 per cent.

However, the difference was found to be significantly larger in the group that had BRCA1, BRCA2, and ATM genetic mutations: a difference of 18.6 per cent.

Interestingly, olaparib was originally developed as a treatment for breast and ovarian cancer. Olaparib, and similar drugs, seem to respond most effectively to BRCA genetic mutations, or what are often referred to as breast cancer genes. Though these genes are well known to be associated with breast cancer, they are also seen as a high risk factor in developing prostate cancer for men.

The reason that this drug is capable of treating two seemingly very different and very gender-oriented cancers is because in both cases, olaparib is focused on blocking the PARP enzyme an enzyme involved in repairing faulty DNA. Though it seems counter-intuitive, their aim is to stop DNA repair so cancer cells can be pushed into apoptosis, or cellular suicide.

Maha Hussain, an oncologist at Northwestern University Feinberg School of Medicine, showcased these discoveries at an oncology meeting.

Essentially, its going after the same target: PARP, Hussain said.

The FDA has approved olaparib for breast and ovarian cancers, but has yet to approve for prostate cancer. If they do, it will be a first in the use of precision medicine; in other words, it will be a first in producing a medicine based on an individuals genetic make-up.

Prostate cancer therapy has been, generally, a one-size-fits-all approach, Hussain said. With regard to precision medicine, I think that weve opened up the door.

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Olaparib breast/ovarian cancer treatment found to be effective against prostate cancer - Excalibur Online

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.

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

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Beam Therapeutics, a biotechnology company developing precision genetic medicines through base editing, today announced that it has entered into a collaboration and license agreement with a newly-formed company, Prime Medicine, Inc. to research and develop a novel gene editing technology called prime editing, recently developed by one of Beams co-founders, David Liu, Ph.D., and his group at the Broad Institute of Harvard and MIT.

Under the agreement, Beam has the exclusive right to develop prime editing technology for the creation or correction of any single-base transition mutations, as well as for the treatment of sickle cell disease, both of which Beam is already pursuing with its base editing technology. Transition mutations (e.g. A to G, C to T) are the largest single class of disease-associated genetic mutations, and are also potentially treatable with base editing. Beam plans to evaluate prime editing technology for potential use in future programs.

Part of Beams strategy is to continue to access emerging technologies in gene editing and delivery, while finding new ways to create meaningful options for patients. Our collaboration with, and contribution to the formation of, Prime Medicine is a great example of that approach, allowing us to incorporate prime editing into the Beam platform, said John Evans, chief executive officer of Beam. This partnership enables both companies to advance the technology in distinct spaces, with Beam focusing on the kinds of edits that are most similar to our base editing technology.

As part of the collaboration, Beam is providing initial interim leadership to Prime Medicine for the first year of the collaboration, and will have the right to designate a member on Prime Medicines board. The parties will also grant each other non-exclusive licenses to certain CRISPR technology and delivery technology to enable the development of prime editing products.

About Beam Therapeutics

Beam Therapeutics is developing precision genetic medicines through base editing. Founded by leading scientists in CRISPR gene editing, Beam is pursuing therapies for serious diseases using its proprietary base editing technology, which can make precise edits to single base pairs in DNA and RNA. Beam is headquartered in Cambridge, Massachusetts. For additional information, visit http://www.BeamTx.com.

Originally posted here:
Beam Therapeutics Announces Collaboration and Exclusive License Agreement with Prime Medicine for Prime Editing Technology - Business Wire

In celebration of our 15 Year Anniversary, Academic Editor Ronald CW Ma highlights advancements published in PLOS Medicine in diabetes research and care, including improved precision medicine.

Happy 15th Birthday to PLOS Medicine! I still remember reading about the PLOS journals and the idea of making science accessible to all back when PLoS was first launched. It is amazing how far the Open Access movement has developed, how far that idea has advanced and how scientific publishing has been revolutionized. Congratulations PLOS Medicine on this important milestone!

Among the many articles that I have enjoyed reading in PLOS Medicine over the years, I would like to highlight two for sharing with other readers on this special occasion.

1) Event Rates, Hospital Utilization, and Costs Associated with Major Complications of Diabetes: A Multicountry Comparative Analysis

This paper by Philip Clarke and colleagues from the ADVANCE Collaborative Group, published back in 2010, highlighted the significant economic burden of diabetes and rates of hospitalization resulting from diabetes co-morbidities, using data from the Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation (ADVANCE) study, a landmark multi-centre trial on the treatment of diabetes conducted in 20 countries. Within the ADVANCE trial settings, the study demonstrated important differences in the rates of hospitalization for different diabetes complications in different regions of the world (Asia, Eastern Europe, and established market economies such as Australia, New Zealand and Canada), mirroring epidemiological observations of comparative higher nephropathy rates, higher stroke risk, and lower risks of coronary artery disease among Asians (mostly from Chinese centres in this particular trial) with type 2 diabetes, thereby highlighting the heterogeneity of risk of diabetes complications (and costs) in different populations.

This study also provided important tools to facilitate estimation of healthcare expenditure associated with diabetes in different healthcare settings. At the time of the study, it was estimated that the average annual per capita health expenditure was approximately 216 international dollars in China, and 698 international dollars in Russia, but that the annual hospital costs for people with diabetes experiencing major macrovascular complications such as coronary or cerebrovascular events would be around four and ten times these average per capita expenditures. Perhaps not fully appreciated at the time was the significant burden associated with hospitalization with heart failure, which is a topic of much current interest in relation to recent advances in the treatment of type 2 diabetes.

Although the work was focused on evaluating the economic burden of diabetes in different parts of the world, this work can be considered as an important example of early attempts to deconstruct the heterogeneity of type 2 diabetes. As the diabetes epidemic continues unabated, the healthcare burden of diabetes complications has become a major concern globally.

2) Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis

The second article, by Jose Florez and colleagues, utilized a state-of-the-art multi-omics approach to use available genetic and epigenomic data to probe the issue of heterogeneity of diabetes. The authors showed that identified genetic loci linked to diabetes can be segregated according to underlying biological mechanisms which can be used to classify individuals, to provide a way forward for individualized diagnosis, monitoring and treatment. The study highlighted the potential role of genetic variants related to the beta cell, pro-insulin, obesity, lipodystrophy and liver/lipid traits in accounting for different patient characteristics, as well as long-term diabetes outcomes.

What was particularly interesting is the soft-clustering approach adopted by the authors, which did not require genetic variants to fit into only one pathway, or for individuals to be classified to have diabetes due to only one specific pathophysiological defect, but instead, for individuals to be identified to have scores in each of the above-mentioned categories, and thereby accepting that individuals may have developed diabetes with different contribution from the different underlying pathophysiology. The use of such genetic risk scores may be useful in selecting the most appropriate therapies for individualized care in the future.

Over the last 15 years, the global burden of diabetes has more than doubled, from less than 200 million people affected back in the early 2000s to now more than 422 million people affected globally (with the majority in LMICs). These 2 articles represent important advances in our understanding of type 2 diabetes over the last decade. Whilst the ADVANCE study was a landmark study that generated much interest, the Clarke paper highlighted much of the burden of diabetes complications, and our lack of understanding regarding the heterogeneity in risk of diabetes complications. Together with the Action to Control Cardiovascular Risk in Diabetes (ACCORD) and Veterans Affairs Diabetes Trial (VADT) studies, these landmark studies, published between 2008-2010, have highlighted the potential dangers of hypoglycaemia, and heralded the debate and call for more individualized treatment in type 2 diabetes, and contributed to the American Diabetes Association (ADA) and European Association for the Study of Diabetes (EASD) to propose in their joint position statement on management of hyperglycaemia in type 2 diabetes in 2012 to move away from a one-size-fit-all approach to treatment, but instead adopt a treatment strategy that is more tailored to individual patient profile, disease duration, co-morbidities and expectations. This represented a major watershed moment in the evolution of diabetes research and care.

With recent advances in genomic medicine and the genetics of type 2 diabetes, some of which have been reported in PLOS Medicine, the era of precision medicine in diabetes is very much here to stay. We, as diabetes researchers and clinicians caring for people with diabetes, look forward to further advances in our understanding of how best to treat individuals with diabetes based on their underlying genetics, pathophysiology, and needs, and to improving outcomes for people with diabetes.

Congratulations again PLOS Medicine and we look forward to the next 15 years of exciting advances!

Ronald Ma is Professor and Head of Division of Endocrinology and Diabetes at the Department of Medicine and Therapeutics, The Chinese University of Hong Kong, and co-lead of the Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine. He is a member of the Executive Board, Asian Association for the Study of Diabetes (AASD), and member of the editorial board of PLOS Medicine.

Acknowledgement: RCWM acknowledge support from the Hong Kong Research Grants Council Research Impact Fund (R4012-18).

Image Credit: stevepb, Pixabay (CC0)

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Charting the evolution of diabetes research and care | Speaking of Medicine - PLoS Blogs

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

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

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

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

Read more at Penn Medicine News.

The rest is here:
Blood test can predict prognosis in deadly brain cancer - Penn: Office of University Communications

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

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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Originally posted here:
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