Public Release: 

Disclosure of incidental genetic findings can have positive impact for patients

Patients who received information about coronary artery disease risk in addition to Alzheimer's disease risk made improvements to health behaviors

Brigham and Women's Hospital

Boston, MA - A new study led by researchers at Brigham and Women's Hospital (BWH) has found that providing unanticipated information about risk of coronary artery disease during a genetic risk assessment for Alzheimer's disease helped some participants cope with their results, and also motivated participants to make changes to their health behaviors. The results of the randomized controlled study are published online in the journal Annals of Internal Medicine on Jan. 26.

"The increasing use of genomics in medicine raises important questions about what to do with the additional information that genomic tests can provide, yet is unrelated to the reasons testing was ordered," said Kurt Christensen, PhD, a researcher at BWH and Harvard Medical School and lead author of the article. "We found that telling individuals who wanted to learn about their risk for Alzheimer's disease about their risk for both Alzheimer's disease and coronary artery disease actually reduced distress among some people, and motivated many to make improvements to their lifestyles."

In this study, 257 participants between the ages of 21 and 83 who had no symptoms of Alzheimer's disease were randomized to one of two groups. For the control group, genetic counselors provided personalized information to participants about their risk for Alzheimer's disease based on analyzing the gene APOE. For the experimental group, participants were provided the same information as well as told that the higher risk variant of the Alzheimer risk gene was also associated with an increased risk for coronary artery disease. Participants were carefully evaluated for lifestyle habits and psychological distress before having genetic testing done and then again at six weeks, six months and a year after learning their genetic results. The researchers found that the participants who were at higher risk for Alzheimer's disease and were also told that they were at risk for coronary artery disease had lower distress scores than those in the control group. Additionally, participants who received the coronary artery disease information were more likely to report making improvements to a variety of health behaviors, such as diet and exercise.

"These findings have important implications for the future of genomic medicine," said Robert C. Green, MD, MPH, a medical geneticist at BWH, director of the Genomes2People Research Program and principal investigator of the study. "The disclosure of secondary findings from genomic testing has great potential to improve the way physicians identify and prevent disease, but there are concerns that such information will harm patients more than it helps. This research is reassuring, and provides evidence that secondary genomic findings disclosure can have a substantial positive psychological and behavioral impact on patients."


This research was supported by National Institutes of Health grants HG002213, HG006500, HD077671, and HG006993.

About the Genomes2People Research Program

The Genomes2People (G2P) Research Program at Brigham and Women's Hospital and Harvard Medical School conducts empirical research in translational genomics and health outcomes. NIH-funded research within G2P seeks to understand the medical, behavioral and economic impact of using genetic risk information to inform future standards. The REVEAL Study has conducted several randomized clinical trials examining the impact of disclosing genetic risk for a frightening disease. The MedSeq Project is conducting a randomized clinical trial to measure the impact of whole genome sequencing on the practice of medicine among patients who have a genetic disorder and among healthy adults. The BabySeq Project is recruiting families of both healthy and sick newborns into a randomized clinical trial where half will have their baby's genome sequenced.

About Brigham and Women's Hospital

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare. BWH has more than 3.5 million annual patient visits, is the largest birthing center in Massachusetts and employs nearly 15,000 people. The Brigham's medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in patient care, quality improvement and patient safety initiatives, and its dedication to research, innovation, community engagement and educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Brigham Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, more than 1,000 physician-investigators and renowned biomedical scientists and faculty supported by nearly $650 million in funding. For the last 25 years, BWH ranked second in research funding from the National Institutes of Health (NIH) among independent hospitals. BWH continually pushes the boundaries of medicine, including building on its legacy in transplantation by performing a partial face transplant in 2009 and the nation's first full face transplant in 2011. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies and the Women's Health Initiative. For more information, resources and to follow us on social media, please visit BWH's online newsroom.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.