Today, the New England Journal of Medicine (NEJM) published findings from the Scripps Genomic Health Initiative, a research study sponsored by Scripps Translational Science Institute (STSI) to assess the behavioral impact of personal genetic testing.
The Scripps Genomic Health Initiative provided study participants who were age 18 and older with personalized genetic risk assessments for more than 20 health conditions that may be changed by health screening and lifestyle, including diabetes, heart attack and some forms of cancer. The study was launched in 2008 and will assess changes in participants’ behaviors over a 20-year period. As a co-sponsor of the study, Navigenics provided the genetic testing used in the research.
Initial results from the Scripps Genomic Health Initiative (SGHI) are published in an article on the New England Journal of Medicine’s website, www.nejm.org. You’ll find Navigenics’ full press release on the initial findings here.
As the first major study of its kind, this research will undoubtedly influence the ongoing evolution of the personal genetic industry. Dr. Vance Vanier, CEO of Navigenics, joined SGHI researchers Drs. Eric Topol and Nicholas Schork in a webcast to discuss the research findings and implications on the industry.
You can view the webcast in the video above, and a full transcript of the webcast also follows below. Participants include:
Eric Topol, MD, PhD
Scripps Translational Science Institute, Scripps Health & The Scripps Research Institute
Author of the Scripps Genomic Health Initiative study
Nicholas Schork, PhD
Scripps Translational Science Institute & The Scripps Research Institute
Author of the Scripps Genomic Health Initiative study
Vance Vanier, MD
CEO of Navigenics
Moderator: “Welcome. In this podcast, we will discuss a recent study examining the clinical, psychological and behavioral impact of personal genetic testing. The study appears in the upcoming issue of the New England Journal of Medicine.
Joining us today are Doctors Nicholas Shork, Eric Topol, and Vance Vanier. Doctors Shork and Topol are co-authors of the study and from the Scripps Translational Science Institute and the Scripps Research Institute. Doctor Vanier is the CEO of Navigenics, a personal genomics company that provided the tests for the study.
Welcome and thank you for joining us today.
Doctor Shork, could you tell us a bit more about the study?”
Dr. Shork: “Sure. We exploited a prospective study design in which we had an initial evaluation period. Then we provided the genetic risk assessment to the participants, and then had a follow-up approximately three to five months later to investigate how the genetic risk assessments may have impacted the health behaviors of the participants.”
Moderator: “And Doctor Topol, can you tell us the top-line findings of the study?”
Dr. Topol: “Sure. The findings were quite unexpected in some ways. That is, there was a lot of fear about genomic testing across 20 different diseases and there was a concern that the subjects who participated were going to be in a fretful, highly anxious state. As it turned out, they were fine; there was no evidence whatsoever of psychological problems – anxiety production. So that was a big part.
The second thing which was somewhat more sobering overall, is that we didn’t see lifestyle changes in the overall population as a function of their genetic, genomic results.
And then the other major finding that we had relates to the screening – medical screening – and there, what we saw were intent to screen as a reflection of what was the risk disease susceptibility. So for example, colon cancer susceptibility led to colonoscopy.”
Dr. Shork: “We also learned that many people might be inspired to make changes in their health behaviors, and although we didn’t see significant changes after five months, we may see significant changes in their lives after a year or so.”
Moderator: “So, Doctor Topol, do you want to tell us a little bit more about how many people participated in the study and of those participants, how many worked with their physician?”
Dr. Topol: “Well, there were over 2,000 individuals who got their baseline genomic profile data, and then they also at about five months follow-up completed the surveys on the impact of having that data. And of those, almost a fourth of them actually consulted with their physicians to go over their genomic information. What was really interesting is those individuals did the best with respect to adopting healthier lifestyles.”
“So this is the first time that we were assessing the entire genomic profile on a large population for psychological effects and even more far reaching, looking at the impact of lifestyle as well as on changing medical screening behavior. So, this was a very ambitious study, and of course we’re very grateful to have had the opportunity to collaborate with Navigenics to help us execute it.”
Moderator “Dr. Vanier, why did Navigenics participate in this study?”
Dr. Vanier: “All of us believe that the field of personalized genomics is going to be extremely important, but it’s clearly early years, and as such there are a lot of questions and sometimes misperceptions about the field. One of them, as Dr. Topol brought up, is whether consumers can really handle this information or if they’ll be fearful about it, and as such we think it’s enormously important to participate in studies like this to move the field forward. And the fact that Navigenics had the opportunity to partner with Scripps, which has a New England Journal publication over this [study], is an incredibly important ground-breaking step for the field.”
Moderator: “Dr. Topol, you spoke to this being the largest study of its kind. Dr. Shork, could you tell us a little bit more about some of the other features of the study?”
Dr. Shork: “Sure. Well, many of the instruments that were used in the study were actually designed by a licensed psychologist, Dr. Cinnamon Bloss, who is the lead author on the study.”
Moderator: “And what does that mean for the psychological implications of the findings?”
Dr. Shork: “Well it means that they’ve been vetted using validated instruments, lending some sophistication to the survey that maybe other studies don’t have.”
Moderator: “And Dr. Vanier, as a physician and CEO of Navigenics, what did you learn from the study?”
Dr. Vanier: “I think there are two major insights for me in the study - the first one revolving around the lack of consumer anxiety, and the second one revolving around the role that the physician could play in personal genomics.
So, the first insight around the lack of consumer anxiety revolves around the fact that any new technology, especially in the healthcare arena, has to overcome obstacles around potential consumer anxiety. Ninety percent of the thousands of people who were surveyed showed no widespread anxiety. Partially I think that’s because we have a philosophy to only test for clinically actionable conditions that you can do something about, but I think it also shows how far the field has moved in the last two years. For me the major insight is that this study really overcomes a lot of the mythology out there around potential consumer fear and anxiety.
The second insight for me revolved around the role of the physician. As Dr. Topol earlier pointed out, I, too was particularly interested in the 25 percent of respondents that took this information to their physician, because they were the ones much more likely to engage in lifestyle change in diet and behavior, which has been a holy grail for primary care physicians and for prevention in American society, and we’ve always felt that personal genomics is at its best when supported by some kind of healthcare professional or integrated with a wellness program, and I think this group of participants gave us an early glimpse into the potential of that.”
Moderator: “And Dr. Topol, would you like to expand on those findings?”
Dr. Topol: “Well, there’s several points, I think, that are worthwhile. Even though a fourth of the individuals consulted with their physicians to interpret and get some guidance, we now know that only ten percent of physicians feel comfortable in dealing with this genomic data – so we have a mismatch and this is something we have to deal with in the future.”
There’s also the point that,the negativism surrounding consumer genome-wide scans has been so profound, almost to the point of animus, against these tests – that it’s really nice to see that we have a large body of data to neutralize that negativism.”
Moderator: “And Dr. Shork, what did the study show about the role of genetic counseling, separate from the physician?”
Dr. Shork: “So approximately ten percent of the participants in this study took advantage of genetic counseling.”
Moderator: “And Dr. Vanier, how will this research inform Navigenics services and interactions with customers moving forward?”
Dr. Vanier: “So, for us, genetic counseling is a centerpiece to the service, and obviously as we watched the study progress we felt that a ten percent uptake was much too low. And a lot of it had to do with the fact that we passively were waiting for people who underwent the testing to come to us to ask for genetic counseling, and we’ve learned from that because I think people don’t understand the value of genetic counseling currently in our society.
So as a function of this study, we’ve now engaged in much more active, proactive outreach, and now everybody who gets a test has a genetic counseling outreach call and as a result of that, the majority of people who take the Navigenics test now undergo a genetic counseling session.
I’d also add, to build on an earlier point that Dr. Topol made about the need for physician education – we’ve seen the genetic counselor as really playing an important role in two dimensions: one is to help counsel people about the meaning of their results and how they can act on them, but two, also to educate the primary care physicians out there, the majority of which are still learning how to use and interpret this information.”
Dr. Topol: “Yeah, there’s a real paradox in that it, the surveys of consumers suggest that 90 percent feel that their doctor is the right one to go to with their genomic data, whereas 90 percent of physicians are uncomfortable, and it’s really a misplaced trust in the physicians because in that survey of consumers, of thousands of consumers, the genetic counselors didn’t get the respect that they deserve. The other problem, this consumer genomics eventually does really grow, is that we only have what, 2,000 genetic counselors in the country for 300 million people – so we really have this mismatch, and that’s another reasons why eventually we’ve got to get the physician group up to speed, so that they can live up to the expectations of their patients.”
Dr. Vanier: “This is an extremely important and groundbreaking step for the field of personal genomics. This is an extremely important step in overturning a lot of the myths around consumer anxiety in regards to this information, and it gives us really important insights in terms of how we can help consumers take this personal genetic information and make it more actionable and actually affect lifestyle change, whether it’s through talking to their physician like 25 percent of the participants did, whether it’s getting genetic counseling or whether it’s integrating it with wellness programs.
And finally, I think it’s inspirational to all of us that as you look at the field of prevention as you look at the field of personal genomics, we have a lot of work ahead of us to make both of these fields even better.”
Moderator: “So Dr. Topol, what’s next for the field of personal genomics?”
Dr. Topol: “Well, the big movement now is in pharmacogenomics, and whereas people are not always enthusiastic about learning disease susceptibility and there are still some uncertainties and holes and all that story, the pharmacogenomics or the interrelationship between the drug impact of efficacy, side effects and one’s genome, is a really hot area. We’ve learned about a lot of major interactions with commonly used drugs, whether it be to actually derive the benefit or serious side effects to avoid, and this is reshaping the field of therapeutics. So it’s very exciting and this is something that clearly is going to continue to explode in the times ahead.”
Moderator: “Well thank you, Dr. Shork, Dr. Topol and Dr. Vanier, for participating today, and thank you for joining our podcast.”