Scripps Translational Science Institute

In this section

RSS Feeds

Scripps study in NEJM first to assess consumer impact of personal genetic tests

Jan 11, 2011

Study shows tests don’t cause anxiety; do spark interest in health screenings

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.

SGHI is sponsored by STSI and the National Institutes of Health’s flagship Clinical and Translational Science Award grant, which was awarded to The Scripps Research Institute, which then partnered with STSI. Additional support comes from a developmental grant from the National Human Genome Research Institute and the Scripps Genomic Medicine division of Scripps Health. SGHI includes a collaboration axis of three companies, which provided no financial assistance to the study: Navigenics Inc. of Foster City, Calif.; Affymetrix of Santa Clara, Calif.; and Microsoft Corp. of Redmond, Wash.

ABOUT SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE:

Founded in 2006, Scripps Translational Science Institute (STSI) is an initiative of Scripps Health, in collaboration with The Scripps Research Institute. STSI initiates research designed to help move basic research from the lab to the patient bedside, bridging the gap between basic science and clinical trials. Scripps Genomic Medicine is a program of STSI and involves genotyping tens of thousands of individuals to identify and define genes responsible for major diseases and the underpinnings of health. For more information about STSI: stsiweb.org

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 .

ABOUT THE SCRIPPS RESEARCH INSTITUTE:

The Scripps Research Institute is one of the world’s largest independent, non-profit biomedical research organizations, at the forefront of basic biomedical science that seeks to comprehend the most fundamental processes of life. Scripps Research is internationally recognized for its discoveries in immunology, molecular and cellular biology, chemistry, neurosciences, autoimmune, cardiovascular, and infectious diseases, and synthetic vaccine development. An institution that evolved from the Scripps Metabolic Clinic founded by philanthropist Ellen Browning Scripps in 1924, Scripps Research currently employs approximately 3,000 scientists, postdoctoral fellows, scientific and other technicians, doctoral degree graduate students, and administrative and technical support personnel. Headquartered in La Jolla, Calif., the institute also includes Scripps Florida, whose researchers focus on basic biomedical science, drug discovery, and technology development. Scripps Florida is located in Jupiter, Fla. For more information, see http://www.scripps.edu.

# # #

For more information about the NEJM report on SGHI findings:

Effect of direct-to-consumer genomewide profiling to assess disease. Bloss, CS, Schork, NJ, Topol, EJ. NEJM. 10.1056. 2011 Jan. 12.
Associated Press article, “Consumers not fazed by DNA health results”: http://online.wsj.com/article/APd370c32b9e334677ad36c4df2d711599.html
HeartWire article, “Direct-to-consumer genome scans do not affect short-term behavior”: http://www.theheart.org/article/1171169.do
Navigenics video: “Expert discussion: NEJM article exploring the impact of personal genomics”: http://blog.navigenics.com/articles/comments/expert_discussion_nejm_article_exploring_the_impact_of_personal_genomics/
In this video, Cinnamon Bloss, Ph.D., talks about her research, which includes the Scripps Genomic Health Initiative: