Learning about Alzheimer’s disease risk cause no distress

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Disclosing genetic risk information to adult children of patients with Alzheimer’s disease (AD) who request this information does not result in significant short-term psychological distress, revealed by researchers.

Researchers from Boston University School of Medicine (BUSM) reported the REVEAL Study in the New England Journal of Medicine.

The study demonstrated that test-related distress was reduced among those who learned that they were negative, and was only transiently increased among those who learned they were positive for Alzheimer’s disease.

The study also showed that persons with high levels of emotional distress before undergoing genetic testing were more likely to have emotional difficulties after disclosure.

The study comes at a time when gene variants that are associated with risks of common diseases are being rapidly discovered and genetic testing is now being marketed by direct-to-consumer genetics testing companies such as 23andMe, Navigenics and DeCodeMe. Considerable controversy has accompanied the launch of these companies and one area of concern has been the potential for psychological harm if individuals learn they are at increased risk for diseases that have no treatment, such as AD.

The BUSM researchers, along with their collaborators at the University of Michigan, Weill Cornell Medical College and Case Western Reserve University School of Medicine randomly assigned 162 asymptomatic adults who had a parent with Alzheimer’s disease to two groups: the disclosure group, who received a risk assessment for their chance to develop AD that included their APOE genotyping results, and the nondisclosure group, who received a risk assessment for AD that excluded their APOE genotyping status. They then measured symptoms of anxiety, depression, and test-related distress six weeks, six months, and one year after disclosure or nondisclosure and found no significant differences between the two groups in measures of anxiety, depression or test-related distress.

Comparisons between the subgroup of participants carrying the APOE e4 variant and those who did not learn their genotype revealed no significant differences, suggesting that learning about increased risk did not cause psychological harm. However, the e4 negative subgroup had a significantly lower level of test-related distress than did the e4 positive subgroup, suggesting a psychological benefit to those who learned they were at lower risk.

Source: Boston University Medical Center, USA

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