Personal genetic tests have promising effects on consumers

New findings from a landmark research study led by Scripps Health and the Scripps Translational Science Institute (STSI) reveal that personal genetic tests have some promising effects on consumers who choose to undergo the screenings. STSI is an initiative of Scripps Health in collaboration with The Scripps Research Institute.

Initial results from the Scripps Genomic Health Initiative (SGHI) are published Jan. 12, 2011 in an article on the New England Journal of Medicine's website, www.nejm.org.  Launched in October 2008, SGHI is the first scientific study to assess how these tests, which have been mired in controversy, affect consumers' health and well-being. 

The SGHI study found no evidence that the screenings induced psychological anxiety among its 2,037 participants.  The study also found that among those participants whose scans showed a high risk for developing a disease, a significant proportion expressed strong intent to undergo the corresponding health screening test.

"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. Eric Topol, who is director of STSI, the senior author of the article and principal investigator of the study.  "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." 

Study participants who were age 18 and older received a scan of their genome for more than 20 health conditions that may be changed by health screening and lifestyle, including diabetes, obesity, heart attack and some forms of cancer.  The study will assess changes in participants' behavior over an extended period of up to 20 years.

"A major concern raised regarding these tests is the possibility they will lead to high levels of anxiety in consumers who receive estimates of high genetic risk," said Cinnamon Bloss, STSI clinical psychologist and lead author of the article.  "But our data suggest this is not the case."

While the study revealed some promising findings, Bloss said SGHI failed to find evidence of improved lifestyle among participants, such as increased exercise or lower fat intake.  "This was not necessarily surprising, however, given how difficult it is to both measure, as well as affect behavior change in these areas," she said.

Before receiving their genome scan results, SGHI participants completed a self-reported baseline questionnaire to gauge their individual level of anxiety, exercise and eating habits, medical screening practices and other behaviors.  Results in the New England Journal of Medicine article are based on a comparison between participants' baseline surveys and their follow-up assessments, which were completed five to six months after they received their gene scan results.

"Our evaluations of participants' responses to genetic testing at five or so months sets the stage for us to further study their responses after one year, since this timeframe would provide opportunity to initiate and sustain changes in health behaviors if five months wasn't long enough," said Nicholas Schork, professor at The Scripps Research Institute and director of biostatistics and bioinformatics with STSI.

Additionally, 26.5 percent of participants reported sharing their results with their physician, and doing so was associated with behavior change such as lower fat intake and increased exercise.  A recent survey shows only about 10 percent of physicians feel they have the necessary training and education in genomics to provide patient care in this area, highlighting a void with respect to physician knowledge and education.