1. From a randomized trial, the disclosure of genetic risk information to those with increased risk of Alzheimer’s disease and coronary artery disease did not increase their anxiety or depression.
2. Disclosing genetic risk information was associated with positive lifestyle modifications, particularly in those who received information about coronary artery disease risk.
Evidence Rating Level: 1 (Excellent)
Study Rundown: Genome sequencing has become more common in all medical specialties, yet the psychological and behavioral impact of disclosing disease risk information to patients has not been thoroughly studied. A variant of the apolipoprotein E, APOE gene, has been shown to confer an increased risk of Alzheimer’s disease (AD) and, to a lesser degree, coronary artery disease (CAD). Therefore, this trial sought to determine if disclosing disease risk information affected psychological health or led patients to make beneficial lifestyle modifications. Participants were randomized to receive risk information about only AD or both AD and CAD (AD+CAD), prior to having their blood drawn for genomic analysis. More than half of all participants changed a health behavior in response to their genetic risk information, and nearly one quarter of participants reported moderate anxiety, depression or test-related distress at ≥1 point in the study with no difference between groups. APOE risk carriers who received risk information about AD had higher mean test-related distress and anxiety scores than non-carriers, but there was no difference in mean depression scores. The receipt of AD+CAD information was associated with lower mean anxiety in carriers, but increased mean anxiety in noncarriers. Interestingly, the AD+CAD group was more likely to report lifestyle changes. The primary limitation of this study was that lifestyle modification changes were self-reported. Overall, these data indicate that genetic risk assessments likely will not negatively impact their patients’ psychological wellbeing.
In-Depth [randomized controlled trial]: In this study, 290 patients from four institutions were randomly assigned to receive risk information for AD only (n = 156) or both AD and CAD (n = 140). After randomization, patients met with genetic counselors to have their blood drawn, determine their family history of AD and establish baseline anxiety and depression. At no point did any participant meet thresholds for mood disorders. The primary endpoint was test-related distress, depression and anxiety were measured using validated questionnaires at 12 months. Patients with more than 1 first degree relative with AD and those with mood disorders at baseline were excluded. Test-related stress, depression and anxiety were measured using the Impact Event Scale (IES), Center for Epidemiologic Studies Depression Scale (CES-D) and Beck Anxiety Inventory (BAI), respectively. At 12 months, the mean BAI was 3.5 and 3.5 for AD-only and AD+CAD, respectively (difference 0.0; 95%CI -1.0 to 1.0), whereas mean CES-D was 6.4 and 7.1 for AD and AD+CAD, respectively (difference 0.7; 95%CI -1.0 to 2.4). CES-D >11 indicates mild depression and BAI >9 indicates mild anxiety. Mean IES was 4.0 and 2.6 for AD and AD+CAD, respectively (difference -1.4; 95%CI -3.3 to 0.5). IES ≥20 indicates significant distress.
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