Contact: Jane E. Rubinstein
jrubinstein@rubenstein.com
212-843-8287
23andMe Inc.

Goal is highly scalable pharmacogenomics research

Mountain View, Calif. — 23andMe has launched a project funded by the National Institutes of Health (NIH) which is aimed at validating 23andMe’s highly-scalable platform for pharmacogenomics research. The company received $190,000 in stimulus funding from the American Recovery and Reinvestment Act of 2009 for “Web-based Phenotyping for Genome-Wide Association Studies of Drug Response” from NIH’s National Human Genome Research Institute.

“One of 23andMe’s research goals is to identify novel pharmacogenetic associations using web-based phenotyping of efficacy and toxicity,” said Anne Wojcicki. co-founder and CEO of 23andMe. “If this project is successful in yielding replications, it will set the stage for rapid, well-powered and cost-effective research on many mediations. In particular, it will facilitate research on new medications as they hit the market, serving to significantly advance personalized medicine.”

Building on 23andMe’s initial success in discovering novel genetic associations related to hair curl, asparagus anosmia (the inability to detect the scent of certain asparagus metabolites in urine), the photic sneeze reflex (the tendency to sneeze when entering bright light), and freckling, as published in PLoS Genetics this year, the research arm of 23andMe is now investigating genetic factors underlying responses to three classes of drugs: non-steroidal anti-inflammatory drugs (NSAIDs); protein-pump inhibitors (PPIs), used to treat gastroesophogeal reflux disease (GERD); and the blood thinner, Warfarin.

This project leverages 23andMe’s customized genotyping chip, which includes thousands of single nucleotide polymorphisms (SNPs) not included on standard chips. In particular, this chip tests numerous SNPs within genes known to be associated with drug metabolism, efficacy, toxicity, or other side effects.

The first phase of the study includes development and validation of web-based surveys to assess the drug side effects and drug effectiveness experienced directly by 23andMe’s customers. During the second phase, the research team will determine whether this approach enables them to replicate previously known associations between response to these three classes of drugs and variation within two genes: CYP2C9 and CYP2C19. 23andMe’s research team will also search for previously unknown genetic factors associated with response to these classes of drugs, taking into consideration a broad range of non-genetic factors such as age, sex, and body-mass index, among others.

In previous studies, 23andMe has demonstrated that self-reported information from customers yields data of quality comparable to that gathered using traditional research methods. Additional benefits of 23andMe’s web-based research model include: the ability to perform hundreds of studies in parallel; easy and efficient ways to contact individual participants multiple times and ask follow-up questions — this enables 23andMe researchers to quickly zero-in on associations that could be the building blocks for future research aimed at prevention, better treatments, and potentially cures for a multitude of diseases and conditions. A web-based research model also affords participants added flexibility, they can choose when and where to respond to surveys and may take breaks to check on answers to specific questions as needed. The geographic location of research participants and their proximity to a research center is no longer a limiting factor with a web-based approach, providing an even larger pool of potential research participants.

Ultimately, web-based data collection, parallel analysis of hundreds of traits and diseases, and highly automated genotyping lead to low cost research. 23andMe’s more than 60,000 customers are invited regularly to participate in a range of research projects; eligible and consenting customers will be invited to join this study during 2011.

The project described is supported by Award Number 1R43HG005807-01 from the National Human Genome Research Institute. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Human Genome Research Institute or the National Institutes of Health.

Disclosures: 23andMe is also currently conducting a study related to Parkinson’s disease that involves web-based collection of phenotypic data.

About 23andMe

23andMe, Inc. is a leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company’s Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at www.23andme.com.

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Posted on: Saturday, 11 December 2010, 00:00 CST

Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.

San Diego (Vocus) December 9, 2010

Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.

That’s the opinion of Dr. Eric Topol, chief academic officer of Scripps Health and director of the Scripps Translational Science Institute in San Diego. Dr. Topol says he expects momentum to continue in 2011 in the following top five areas.

1. Prescription Medications. Patients in the United States spend more than $300 billion a year on prescription medications, but in most cases the drugs either don’t work, cause serious side effects, or both. Now, genomic information is providing valuable intelligence to guide more effective use of medications. Pharmacy benefit managers (PBMs) including Medco and CVC/Caremark recently started genotyping a portion of the 100 million patients they cover for compatibility with Plavix and other medicines. These two companies will likely expand screening to more patients and additional drugs in 2011, with other PBMs almost certain to follow suit. Genetic screening for drug therapy will reduce waste and costs, while improving patient care. This needs to be promoted at the local health system level, and not just through PBMs.

2. Cancer. Genomic sequencing is helping doctors more precisely define the “driver” genetic mutations associated with the development and progression of cancer. And now that sequencing is becoming far less expensive, the ability to sequence everyone with a serious cancer may soon be within reach. Besides an improved capacity to zero in on the driver mutations, another important development is taking shape: the choices of drugs that work on these mutations is expanding, with some already being marketed and others in the pipeline. This is significant, since it’s likely that there will be a combination of drugs that will work on the pathway that has gone off track. Using genomics to find and target cancer tumors will expand worldwide in 2011.

3. Diabetes. The scientific community is starting to learn a great deal more about the genomics of diabetes, a growing epidemic that affects 300 million people worldwide. Diabetes has long been perceived in terms of type 1 and 2, but the genome has revealed numerous variants that predispose people to a great many other forms of the disease. For example, some people are unable to transport or make insulin; others may be resistant to insulin at the tissue level, or the insulin can’t get out of the cell. Expanding and refining the number of subtypes of diabetes will enable physicians to match up therapies, rather than the current approach of prescribing a sea of drugs with hit-or-miss results. More efforts are expected to be focused in this area in 2011, along with greater adoption of wireless monitoring of glucose levels.

4. Physician Education. Only about 10 percent of America’s doctors believe they have enough knowledge of genetics to use it in their medical practice, according to a national study. Yet the vast majority of patients indicate their doctors are the ones they trust with their genomic data. Addressing this paradox will be the focus of the College of Genomic Medicine when it launches in 2011. This online learning and credentialing program will take participants through approximately eight hours of instruction on various aspects of genomic medicine, followed by exam they must pass to be certified. When it comes to educating physicians, the stakes are high. Without getting doctors up to speed, all of the new genomic knowledge – particularly in guiding drug therapy – will be wasted.

5. Personal Gene Tests. Despite being castigated by the medical community and government regulators for their inability to accurately predict disease risk, consumer gene tests will continue to offer important benefits to patients. In addition to their main practical application – guiding drug therapy on an individualized basis – these tests can help prompt many consumers to get appropriate health screening tests they otherwise may have forgone. For example, only about half of those 50 and older get colonoscopies as recommended. There is plenty of room for patients to improve their adherence to screening guidelines across all diseases, and personal gene tests may provide an important tipping point for many.

ABOUT SCRIPPS HEALTH

Founded in 1924 by philanthropist Ellen Browning Scripps, Scripps Health is a $2.3 billion, private not-for-profit integrated health system based in San Diego, Calif. Scripps treats a half-million patients annually through the dedication of 2,500 affiliated physicians and 13,000 employees among its five acute-care hospital campuses, home health care services, and ambulatory care network of physician offices and 22 outpatient centers and clinics.

Recognized as a leader in the prevention, diagnosis, and treatment of disease, Scripps is also at the forefront of clinical research, genomic medicine, wireless health care and graduate medical education. Scripps has been recognized by Thomson Reuters as one of the Top 10 health systems in the nation for quality care. With three highly respected graduate medical education programs, Scripps is a longstanding member of the Association of American Medical Colleges. More information can be found at http://www.scripps.org.

Contact: Steve Carpowich

Phone: 858-678-7183

E-mail: carpowich.stephen(at)scrippshealth(dot)org

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For the original version on PRWeb visit: http://www.prweb.com/releases/prweb2010/12/prweb4880284.htm

Source: prweb

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