The Personalized/Precision Medicine Blog
Syapse has been a constant presence in the precision medicine industry, and has recently furthered its involvement in oncology through a partnership with Henry Ford Health Systems. Henry Ford Health System, one of the largest national integrated health systems, will provide cancer outcomes data to Syapse. In return, Syapse will use this data in its software platform, which will enable faster, global learning gained from real-world experiences. Through this agreement, there will be a launch of an oncology precision medicine program, with the hope of providing precision medicine to patients in the greater Midwest.
Jonathan Hirsch, president and founder of Syapse, will be highlighting his company’s efforts at revolutionizing precision cancer care at the 8th Annual Personalized and Precision Medicine Conference. To learn more information, visit: http://personalizedmedicinepartnerships.com/.
In the next few months, Henry Ford Health System will launch the Syapse Precision Medicine Platform software across its cancer care facilities, including the new $10 million destination cancer center in Detroit. Both companies are optimistic that this partnership will advance innovative cancer clinical care, especially for patients in the Midwest. Jonathan Hirsch stated, “We believe that precision medicine will be a core enabling technology for health systems to transform to value-based care.” For more information on this partnership, visit: http://syapse.com/blog/henry-ford-press-release-june-2016/.
Researchers at the University of California, San Diego have discovered proof of concept in determining whether a drug will produce adverse side effects based on assessing blood samples. This predictive model predicts how variations in an individual’s genetic backgrounds will affect how the drug is metabolized, and therefore if a side effect is probable.
This UCSD study focused specifically on red blood cells, as they are the simplest human cells. The study was conducted amongst 24 individuals to determine why some individuals experience side effects from ribavirin, a drug used to treat hepatitis C, and others did not. It was discovered that a side effect of ribavirin is that it can cause anemia, or a decrease in red blood cell levels, which occurred in around 8 to 10 percent of patients.
“A goal of our predictive model is to pinpoint specific regions in the red blood cell that might increase susceptibility to this side effect and predict what will potentially happen to any particular patient on this drug over time,” said UC San Diego alumnus Aarash Bordbar, who was part of the research team as a Ph.D. student.
Aarash Bordbar will be presenting this research at the 8th Annual Personalized & Precision Medicine Conference, taking place on October 12-13, 2016 in San Francisco, CA. For more information about conference, visit: http://personalizedmedicinepartnerships.com/.
By predicting how variations in patients’ genes impact how they metabolize the drug, pharmaceutical companies could soon have the ability to conduct predictive screenings before beginning clinical trials. Therefore, this model has the potential to revolutionize what is known about the variance in metabolizing drugs.
In the future, the UCSD research team strives to develop a predictive model for platelet cells, which are vastly more complex than red blood cells, as well as a predictive liver cell model. As this organ is where the majority of drugs are metabolized, and where many drug side effects are manifested, this finding would be revolutionary to pharmaceutical companies in clinical trials. To learn more about this study, visit: http://bit.ly/20oo7rp.
Recently, Genelex responded to requests by various stakeholders in the personalized and precision medicine industry by creating High Risk PGx Drug Charts, which are available on the YouScript software. By providing these helpful resources when interpreting PGx results with these resources, Genelex hopes to improve the evaluation of drug-drug, drug-gene, and cumulative interactions in real-time.This interactive clinical decision support (CDS) tool analyzes specific patient’s complete drug list and phenotype results, to ensure more predictable patient responses. There are two versions of the chart available through YouScript: one sorted by major drug specialties and the other sorted alphabetically.
As a thought leader in the field of pharmacogenomics, Genelex strives to revolutionize how we can lessen the occurrence of drug side effects. CEO Kristine Ashcraft will be sharing her insights on pharmacogenomics at Arrowhead’s 8th Annual Personalized & Precision Medicine Conference.
For more information on the High Risk PGx Drug Charts, visit: http://genelex.com/blog/new-and-improved-high-risk-pgx-drug-charts/.
Kristine Ashcraft has been a critical part of the leadership team at Genelex since 2000, and has served many roles since then. Ashcraft’s presentation will focus on Genelex’s long-standing commitment to precision medicine and pharmacogenomics, and two critical questions: who do we test, and how do we do it?
Included in the High Risk PGx Charts are drug-gene pairs, the worst-case-scenario impact rating for the interaction, and any other available guidelines from a variety of organizations who developed dosing guidelines around the world.
In the midst of several colliding perspectives on personal data sharing from both patients and researchers, it is challenging to comprehend how clinical study designs should be conducted to benefit both stakeholders. Sage Bionetworks recently began sharing data from over 9,000 participants of mPower, a mobile health research study for Parkinson’s Disease. As one of the first observational assessments of human health to achieve this scale, its success is attributed to the unique study design which emphasizes transparency and trust between participants and researchers.
John Wilbanks, Chief Commons Officer, Sage Bionetworks, will be sharing this case study at Arrowhead’s 8th Annual Personalized & Precision Medicine Conference on October 12-13, 2016 in San Francisco. For more information about the conference, CLICK HERE.
By developing an electronic consent process which enables participants to determine their individual data-sharing preferences, Sage Bionetworks addressed any misconceptions that patients’ information will be shared broadly and without their consent. They also allowed patients to change their data-sharing setting at any time during the study. That being said, more than 75% of the participants who qualified and consented decided to share their data broadly. After ensuring transparency, the research team was then able to collect self-reported outcomes and qualitative sensor data, which were shared for secondary analysis.
In return, Sage Bionetworks excluded commercial resale, marketing uses and re-identification of data donors. Therefore, by prioritizing transparency and emphasizing return of information, mPower was able to redefine how patient data sharing studies are conducted. For more information, visit: http://go.nature.com/1S3cMeY.
(Guest Blogger: DeAunne Denmark, MD, Ph.D., Research Associate, Oregon Health and Science University)
Guest Blogger: Gitte Pedersen, Chief Executive Officer, Genomic Expression (Ms. Pedersen will be giving a presentation entitled "Making RNA Sequencing Actionable in The Clinic" at the 7th Annual Personalized and Precision Medicine Conference in Baltimore on October 5-6, 2015.
Guest Blogger: Anya Schiess, MBA, General Partner, Co-Founder, Healthy Ventures (Ms. Schiess will be giving a presentation entitled "Healthy Ventures: A New VC Perspective" at the 7th Annual Personalized and Precision Medicine Conference in Baltimore on October 5-6, 2015.
Guest Bloggers: Ron Eisenstein, Partner, Nixon Peabody, David Resnick, JD, Partner, Nixon Peabody (Mr. Resnick will be giving a presentation entitled "Balancing Public and Private Intellectual Property Interests in a Post Mayo-Myriad Age: What is Likely to Be Patentable in Diagnostics - and What Should Be Patentable - to Best Serve the Public Interest" at the 7th Annual Personalized and Precision Medicine Conference in Baltimore on October 5-6, 2015.
By now most people have read about the U.S. Court of Appeals for the Federal Circuit's long awaited decision in Ariosa v. Sequenom. Whether or not you agree with the decision, almost all, including the Federal Circuit, agree that the technology in question revolutionized prenatal diagnostics. Sequenom developed the relevant technology to use fetal DNA in the mother’s blood to detect genetic abnormalities. This technological advance allowed diagnostic tests, for example, screening for Down’s Syndrome, to be done with a small sample of the mother’s blood, avoiding the serious risks of amniocentesis.
LIMITS TO PROGRESS
Nearly 30 years after the start of planning for the Human Genome Project, 25 years after the Project began, and 12 years after it’s completion was announced, genomic research progress is becoming impactful. Lives are being radically changed for the better thanks to more precise, diagnostics and targeted treatments. Patients are starting to get the right medicine in the right dose at the beginning of treatment, not halfway through. However, although tumor profiling is regularly done to determine which of available cancer treatments is most appropriate, and pharmacogenetic/pharmacogenomic testing is more available thanks to an increasingly crowded market, personalized medicine has yet to help the majority of patients, e.g. those suffering from common and complex diseases.
This is largely because the US government does not yet have large studies linking genomic to clinical data. Numerous other countries, however, do. The British 100,000 genomes project, the Saudi Arabia’ Genome Mapping Project, the Genome of the Netherlands, with similar efforts starting up in Belgium, and other European Countries are cases in point. Many reasons for the US lag have been cited, including the lack of data management standards and system inter-operatability. Notably, the private sector is leading the way. The largest current repository is privately owned, by 23 & Me (800,000 samples), Craig Venter is spearheading the Microbes and Metabolites Fuel an Ambitious Aging Project, which will sequence a million genomes, and some pharmaceutical companies are establishing in house sequencing projects, i.e.“The Search for Exceptional Genomes”).
Recognizing the medical power of personalized medicine to prevent, treat and in some cases cure disease, President Obama announced that the US will get into the game with a $215 million dollar precision medicine initiative to expand initial successes into a large-scale effort. While the initiative will use data from existing cohort studies, widespread participation, including the public and the breadth of stakeholders, is vital to the 2nd core objective of creating a research database of 1 million genomes with related clinical and other types of information which will generate a new taxonomy of disease based on what the National Academy of Science http:www.nap.edu/catalog/13284/toward-precision-medicine-building-a-knowledge-network-for-biomedical researchcalls an information commons and knowledge network of disease and treatments.
Excitement is high and planning began within weeks of the initiative’s announcement. The NIH hosted a two day workshop where experts, representing a broad range of diverse disciplines and white papers, presentations and thoughts about opportunities, challenges and strategies for successful implementation, http://www.nih.gov/precisionmedicine/workshop.htm. 2500 viewers engaged through WebEx. Regulatory officials recently announced plans to use the $10 million expected to build full or hybrid cloud storage, open-source data sharing platforms and Google-like search tools.
It is easy to get excited about this new initiative, particularly because it promises to propel precision medicine efficiently and effectively. But, combining and mining data from disparate third party sources will be no small feat, particularly considering the adoption process of electronic medical records and existing interoperatability problems in linking existing databases. Cautious optimism may be prudent, given that existing smaller scale sequencing projects are moving at a snail’s pace or stalling out. The Million Veteran Program, (http://www.whitehouse.gov/sites/default/files/microsites/ostp/kupersmith.pdf) launched in 2011, intends to combine individual genetic information to determine associations between genetics and health status to better screen, diagnose, and prognose disease and develop targeted treatments, only recently (less than 6 months ago) awarded the genomic analyses contract. As of last year at this time, i.e. three years into the project, only 200,000 veterans had enrolled. To be fair, though, a recent report indicates that the Project already has 343,000 samples and has partially analyzed 200,000 participants[CI6] (http://www.technologyreview.com/news/534591/us-to-develop-dna-study-of-one-million-people/. Progress has been, in other words, slow. If you are unaware of the project’s status, that could be because the government has said little. Another relatively large scale project, the National Children’s Study, which was designed to collect 100,000 genomes at birth, and slated to start next year, was shut down at the end of last year based on a report that found that the design was not feasible. Congressional battles about funding issues did not help matters. These events will hopefully inform planning efforts so that the current initiative will not succumb to the same.
Pundits have expressed concern about the government’s ability to manage such a large dataset given technological failures of HealthCare.gov. The insurance exchange site crashed and shut down for 5 hours upon launch. A technological glitch related to income verification prevented an unknown number of public from submitting applications and a hacker claimed to have obtained 70,000 records containing personal identifying information.
A separate concern is whether the initiative will permit broad based data sharing. Currently, while publicly funded research is deposited into publicly accessible databases, as a practical matter only research institutions with the resources to devote to filing laborious applications can hope to gain access. Small labs and institutions with far lower operating budgets cannot devote scarce resources to securing access to data, and thus their research is severely limited. Without data access, they simply cannot pursue certain research and thus talented researchers are beginning to redirect their careers to plant and animal genomes, since they are more readily accessible. http://www.sciencedirect.com/science/journal/22120661/3/4
Public engagement is clearly vital. And media coverage may be greasing the skids for success. After all, when the President of the United States announces a biomedical initiative in his (or perhaps some day her) State of the Union address, many take notice; http://www.whitehouse.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative. When USA Today reports on details of the initiative, its clear that precision medicine is trying to make its way into every home in America; http://www.usatoday.com/story/news/nation/2015/01/30/obama-precision-medicine-initiative-white-house/22547019/.
If the precision medicine initiative can overcome both of these impediments, it will have achieved a great deal. Good planning is a start and timely execution important. If the initiative succeeds in being transparent, engaging the public and enabling broad based data sharing then a new paradigm of open and collaborative research will have been established. Such will undoubtedly propel precision medicine significantly forward and ideally support precision medicine efforts underway in various places around the globe.
The opportunity for thoughtful public input is great given the discussions that will occur at the plethora of upcoming precision medicine conferences. Hopefully, the NIH and the FDA will invite public comment, because the discussions that will occur at precision medicine conferences are likely to generate valuable insights.
Genomic sequencing is moving into clinical care, but this technological advance threatens to outpace our ability to use it effectively in clinical practice and to address the associated health policy issues. A key issue is whether payers will cover sequencing and what evidence will be needed to document its value. The TRANSPERS (Ctr for Translational & Policy Research on Personalized Medicine) Center at UC San Francisco has just released a Policy Primer for Genomic Sequencing, the press release for which can be viewed here: http://tinyurl.com/owbzaya.
Foley & Hoag’s Bruce Quinn, MD, Ph.D., a national expert on Medicare policy and health reform has offered his thoughts on the FDA’s recent notice of intent to issue draft guidance for regulation of lab-developed tests (LDTs) in a couple of forums recently. Here are the urls:
New discoveries in genomics research are exciting to physicians because they can see that genomics targeting may provide greater effectiveness in patient treatments. In collaboration with the Genomics Medicine Institute (GMI) at El Camino Hospital and Genetic Alliance, NCHPEG (National Coalition for Health Professionals Education in Genetics) has developed a CME curriculum on genomic medicine.