Navigenics, a leading personal genomics company, announced today that The New England Journal of Medicine (NEJM) has 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 study. Initial results from the Scripps Genomic Health Initiative (SGHI) will be published Jan. 12, 2011 in an article on the New England Journal of Medicine's website, www.nejm.org.
"This is a ground-breaking step for the field of personal genomics," noted Dr. Vance Vanier, CEO of Navigenics. "The Scripps Genomic Health Initiative is the largest study of its kind, and the first in which researchers assessed an entire genomic profile on a large population for psychological effects. The study is even more far-reaching than others because it examines both the impact of lifestyle and medical screening behaviors."
A key finding at this stage in the research showed that the vast majority of study participants did not experience any heightened state of anxiety as a result of receiving genetic information, regardless of what that information said about their risk.
"Our research showed no evidence whatsoever of anxiety or psychological stress," said Eric Topol, MD, Director of Scripps Translational Science Institute, Chief Academic Officer of Scripps Health, and Professor of Translational Genomics of The Scripps Research Institute and senior author of the study. "This is particularly significant because it is the first large body of data we have to allay concerns around consumer anxiety related to genetic risk assessment. Not only can consumers handle their personal genetic information, but they are getting genomically oriented and anchored about such data."
Navigenics provides access to board-certified genetic counselors to all of its customers as well as physicians to ensure adequate support. In this study, participants reported a 10 percent utilization rate of Navigenics' genetic counselors during the enrollment period in 2008.
"We followed the progress of the study closely and made significant changes to our processes in response to the counseling rates we were seeing," said Elissa Levin, MS, CGC, Vice President of Genomic Services at Navigenics. "Most people are not yet familiar with what a genetic counselor is or how speaking with one can help them understand their personal genetic data. Simply waiting for them to request a counseling session was not effective. We now proactively reach out to every individual who completes Navigenics' risk assessment, and, as a result, the majority now undergo genetic counseling, which is offered to all customers at no additional cost."
The study also found a notable correlation with risk disease susceptibility and intent to use health screenings or medical tests, such as mammograms and colonoscopies. The 25 percent of participants who shared results with their physicians were significantly more likely to make lifestyle changes.
"These data are informative for the potential of targeted screening, rather than the current mass medicine approach - screening based upon specific individual risk," said Dr. Topol. "As just one example, early detection is a critical factor in preventing many diseases, yet a lot of us don't get our health screenings as recommended. For instance, only about half of the people who should get colonoscopies actually do."
Dr. Vanier said that Navigenics looks forward to further findings from the SGHI study, as this research offers valuable insights that can continue to help shape the growing field of personal genomics.
"As with any new technology there is always an adoption curve, and these findings give a glimpse into how personal genetic information will be used as more people have access to the information," said Dr. Vanier. "What is exciting about the research today is that the findings validate the premise upon which we were founded - armed with information that is clinically actionable, people will make changes, and that happens best when supported by a healthcare professional."