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Disclosing both heart, Alzheimer’s risks during APOE testing found safe

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Combined AD, CAD testing may not be high priority

Dr. Christensen and his colleagues’ work highlights that disclosure of incidental genetic findings with known prevention strategies can be tolerated well by participants.

However, specifically for APOE, the risk for AD is likely in the category of high predictive value but low preventive value. Whereas, using APOE for CAD risk is likely in the category of high preventive value but low predictive value. Therefore, these together may not be a high priority for testing at this point.

Dr. Michael F. Murray is with the Genomic Medicine Institute in the Geisinger Health System in Forty Fort, Pa. These comments are taken from his editorial that accompanied Dr. Christensen’s report (Ann Intern Med. 2016 Jan 26. doi: 10.7326/M15-2993). He had no disclosures to report.


 

FROM ANNALS OF INTERNAL MEDICINE

References

Anxiety and depression were not increased with disclosure of pleiotropic genetic information during genetic testing for Alzheimer’s disease, according to results from the randomized REVEAL trial.

Disclosure of risk for both Alzheimer’s disease (AD) and coronary artery disease (CAD) in people who carried the pleiotropic epsilon-4 allele of the apolipoprotein E gene (APOE4) was associated with less distress and anxiety than was disclosure of AD risk alone and led to more reported change in health behaviors.

Kurt D. Christensen, Ph.D., of Brigham and Women’s Hospital, Boston, and his colleagues conducted the REVEAL (Risk Evaluation and Education for Alzheimer’s Disease) trial to assess participant’s anxiety and depression levels and behavioral change after disclosure of the association of CAD with APOE genotype during genetic testing for AD because of the dearth of research into the harms and benefits of revealing incidental genomic findings to the patient (Ann Intern Med. 2016 Jan 26. doi: 10.7326/M15-0187).

Participants were randomly assigned to receive AD disclosure or AD and CAD disclosure by telephone or in person. Of the 257 adult participants, 69% had a first-degree relative with AD. Participant dropout prior to disclosure occurred at 15% and 8% in the AD/CAD group and AD group, respectively. Participants who were younger (P = .003), unmarried (P = .028), less educated (P less than .001), and female (P = .009) were more likely to drop out.

After 12 months of follow-up, both the AD and the AD/CAD group had a mean Beck Anxiety Inventory of 3.5 (difference, 0.0; 95% confidence interval, –1.0 to 1.0), and the mean Center for Epidemiologic Studies Depression Scale was 6.4 in the AD group and 7.1 in the AD/CAD group (difference, 0.7; 95% CI, –1.0 to 2.4).

Among APOE4 carriers, people who received CAD disclosure had less distress than did noncarriers (difference, –4.8; 95% CI, –8.6 to –1.0; P = .031 for interaction), but those who received only AD disclosure had higher anxiety scores (12-month mean difference, 1.9; 95% CI, 0.1 to 3.7).

Both APOE4 carriers and those who received AD and CAD disclosure were more likely to report changes in health behaviors.

“Responses on the primary outcomes of anxiety and depression were equivalent between participants receiving information on AD risk plus secondary information on CAD risk and those receiving information on AD risk only ... However, participants at increased risk for disease (APOE4 carriers) seemed to experience less test-related distress at 12 months, if they also received CAD information,” the authors wrote.

The study was supported by grants from the National Institutes of Health. The authors reported multiple disclosures.

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