Genomics and the Consumer: The Present and Future of Personalized Medicine.” The approximately 150 people in attendance—lawyers, scientists, ethicists, business people, elected officials and consumers themselves—were treated to a day of stimulating panel discussions, plus lunch breakout sessions focused on some of the biggest questions facing consumer genomics today.In her closing remarks at the end of the day, 23andMe President and Co-Founder Anne Wojcicki noted that since the emergence of the consumer genomics industry a little more than four years ago, the various stakeholders involved have moved ever closer to finding common ground. In keeping with the day’s theme of honest inquiry and open discussion, Wojcicki encouraged anyone with ideas to make them known, both to regulators (see this post for info on how to comment on the upcoming FDA hearing) and to 23andMe itself.Below is a quick synopsis of each session. Search Twitter for #gcpm to see updates posted during the event. We’ll be posting video of the entire day within the next week or so (watch this space for a link, or follow us on Facebook or Twitter to get updates on this and other company news). If you or others you know of were at the event, please leave links/notes in the comments.P4 Medicine (Predictive, Personalized, Preventive & Participatory): Catalyzing a Revolution from Reactive to Proactive Medicine The morning began with a fascinating keynote lecture by Leroy Hood, MD, from the Institute for Systems Biology in Washington. Dr. Hood is conducting pioneering research that promises to change how medicine is done.Dr. Hood’s focus is on how by changing the way we think about biology and how we study it, we will develop tools that will bring about an information science revolution in medicine. This, he predicts, will not only allow healthcare to be focused on the individual, but will lead to the ability to focus on single organs, single cells and even single molecules. Dr. Hood provided stunning examples of the work his Institute is doing and detailed pilot projects that are already moving this science into the clinic.A version of this talk Dr. Hood gave at a previous event is available on SlideShare. (Once our video is up, you’ll get an even better sense of how exciting Dr. Hood’s ideas are.)Integrating Personalized Medicine Into Clinical PracticeAfter Dr. Hood’s talk on P4 Medicine, a panel discussed the gap between the innovation and application of genomic technologies. The panelists included Edward Abrahams, PhD, president of the Personalized Medicine Coalition; Uta Francke, MD, clinical genetics practitioner and Professor of Genetics and Pediatrics at Stanford University; Mark Hoffman, PhD, Vice President of Life Sciences Solutions at Cerner; and Kelly Ormond, MS, CGC, genetic counselor and Associate Professor in the Department of Genetics at Stanford University. David Ewing Duncan, an author, journalist and the Director of the Center of Life Science Policy at UC Berkeley moderated the discussion.The panelists debated whether genetic testing provides just health care information or something in a class of its own. They also questioned which results physicians should tell patients—only those that are actionable, or everything available?General agreement that information should not be kept from patients led naturally to a discussion of direct-to-consumer genetic testing. The panelists highlighted the industry’s role in educating the public and as Dr. Hoffman said, “stirring the pot.”The panelists predicted that there will be more genetics-related medical specialties in the future, and that many more primary care physicians will integrate genetics into their practices. Panelists agreed, however, that evidence of personalized medicine’s success would be necessary to convince physicians to incorporate it into their practices. Although the majority of the discussion focused on genetic testing, panelists stressed that genetic testing is only part of the larger topic of personalized medicine.(Reporting by AnnieM)The Potential Pitfalls of Genomic ResearchThe second panel of the day turned from how we’re going to use genomic information, to how we get the information in the first place.Thomas Goetz, author and executive editor at Wired Magazine, moderated a panel featuring Joanna Mountain, PhD, Senior Director of Research at 23andMe; Robert Shelton, CEO of Private Access; Brad Templeton, director and former chairman of the Electronic Frontier Foundation; and David Winickoff, JD, Associate Professor of Bioethics and Society and co-director of the Science, Technology and Society Center at UC BerkeleyThomas Goetz opened by asking the panelists if genomics was “just a technology,” or instead something fundamentally different. This was meant to focus in on a theme that had also come up in the first panel, the question of whether we need to deal with genetics and genetic research in a special way because there is something fundamentally different about information that comes from DNA.Like most important questions, there was no simple answer. Robert Shelton noted that unlike other types of information collected during medical research, genetic information is unchanging throughout your life, and it gives information not just about you, but also about your family. Brad Templeton noted that unlike some of your other information, you can’t help but leave your DNA everywhere you go. Also, it can’t really be de-identified in the way that a Social Security number of other bit of personal data can be.On the less technical side, David Winickoff noted that DNA is imbued with a certain power in our society, and is often used as to evoke feelings of inevitability and determinism. Dr. Mountain acknowledged this, but pointed to the fact that unlike the information DNA provides and how it can be traced, perceptions of DNA can be changed through education, something she feels the consumer genomics industry is spearheading.The conversation then turned to issues of privacy for people taking part in genomics research. All of the panelists agreed that research participants should understand their rights and how their information will be used, and that mechanisms for actively controlling data should be put in place. But no matter how well intentioned researchers are in trying to explain all the ways in which data might be used, it can be impossible to predict future uses that may not be acceptable to research participants. David Winickoff pointed to the recent case of the Havasupai tribe in Arizona that was upset to learn their samples originally donated for diabetes research had been used for mental health and ancestry research. Brad Templeton noted that this is an issue that plagues many projects involving large amounts of data, declaring that there has never been a massive data collection that wasn’t repurposed.The panel finished with a quick discussion of the benefits of collecting a large amount of data and having participants agree to have their information be used for a variety of studies. In particular, Thomas Goetz noted that 23andMe’s database was used to help show how a recent paper about genetic variations associated with longevity may not be all it had been cracked up to be in the press. The Regulatory Landscape for Personal GenomicsBefore the final panel of the day, Dan Vorhuas, an attorney with Robinson, Bradshaw & Hinson, covered the legal issues surrounding personal genomics. No synopsis could do this far-reaching and thorough treatment of the subject justice. Readers are directed to Dan’s blog, The Genomics Law Report, where he has gone in depth into every conceivable angle of this topic (including his own synopsis of the policy forum).Risks and Benefits of Direct-to-Consumer Access to Genetic InformationTouching on some of the most nuanced and sensitive issues in the growing field of genomics and personalized health care, the final panel discussion seemed to agree on at least one thing: “It’s all about the data.”Alex Padilla, who in his capacity as California State Senator has been involved in working out the public policy implications of genomics, moderated a spectrum of viewpoints surrounding the issue of direct-to-consumer access to genetic information. On stage with the Senator were three distinct voices: Misha Angrist, PhD, Assistant Professor of the Practice at Duke’s Institute for Genome Sciences & Policy (and the fourth person to have his full genome sequenced by George Church’s Personal Genome Project); Amy L. McGuire, JD, PhD, Associate Professor of Medicine and Medical Ethics and Associate Director of Research with the Center for Medical Ethics and Health Policy at Baylor College of Medicine; and Sandra Soo-Jin Lee, PhD, a medical anthropologist focusing on race, ethnicity and social identity as a Senior Research Scholar at the Stanford Center for Biomedical Ethics.
At the heart of the discussion was the fact that the rapid pace of technological change is enabling an ever-increasing capacity to collect data, yet, as Dr. McGuire pointed out, science needs to catch up in order to know what all this data means.Much of the discussion returned to themes touched on in the morning by panelists thinking about how to integrate personalized medicine into clinical practice. The afternoon panelists delved more deeply into discussions of how evidence from empirical work will be need to show validity and utility of genomic information, which in turn is needed to convince doctors of the diagnostic and preventative power of genetics. The panelists also questioned how genetics is going to transform the field of medicine. If doctors become responsible for utilizing genetic information in their practice, what changes in medical education will have to be made to incorporate new genetic findings? Will new specialties arise, such as a “genetics specialist” or “genomologist”?
The panelists also discussed how validity and utility are key for consumers as well, especially as genetic information is becoming more readily available. If patients are to handle their own data directly, they must have confidence that the data is accurate and understand how to interpret probabilities, uncertainties, and complexities. The panelists pointed to a number of cases where patients changed their behavior for the worse due to incorrect interpretation. (During the question period, however, there were several examples of genetic information being used wisely.)Dr. Lee argued that the public currently lacks a good “genetic vernacular” and that instead of trying to solve the dilemmas of genetic test access within the existing field of medicine, “maybe we need to transform the system.” There was general agreement that change will be needed, but striking a cautionary note about going too far, Dr. McGuire pointed out that “medicine is both an art and a science. We don’t want doctors to loose clinical judgment in the face of numbers.”(Reporting by JulianaS)
Consumer Genomics Policy Forum Sponsored by 23andMe
July 15, 2010