Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing: The MI-GENES Study (Myocardial Infarction Genes)

Abstract

Background: Whether disclosing genetic risk for coronary heart disease (CHD) to individuals influences information seeking and information sharing is not known. We hypothesized that disclosing genetic risk for CHD to individuals influences information seeking and sharing.

Methods and results: The MI-GENES study (Myocardial Infarction Genes) randomized participants (n=203) aged 45 to 65 years who were at intermediate CHD risk based on conventional risk factors and not on statins to receive their conventional risk score alone or also a genetic risk score based on 28 variants. CHD risk was disclosed by a genetic counselor and then discussed with a physician. Surveys assessing information seeking were completed before and after risk disclosure. Information sharing was assessed post-disclosure. Six-month post-disclosure, genetic risk score participants were more likely than conventional risk score participants to visit a website to learn about CHD (odds ratio [OR], 4.88 [confidence interval (CI), 1.55-19.13]; P=0.01), use the internet for information about how genetic factors affect CHD risk (OR, 2.11 [CI, 1.03-4.47]; P=0.04), access their CHD risk via a patient portal (OR, 2.99 [CI, 1.35-7.04]; P=0.01), and discuss their CHD risk with others (OR, 3.13 [CI, 1.41-7.47]; P=0.01), particularly their siblings (OR, 1.92 [CI, 1.06-3.51]; P=0.03), extended family (OR, 3.8 [CI, 1.37-12.38]; P=0.01), coworkers (OR, 2.42 [CI, 1.09-5.76]; P=0.03), and primary care provider (PCP; OR, 2.00 [CI, 1.08-3.75]; P=0.03).

Conclusions: Disclosure of a genetic risk score for CHD increased information seeking and sharing.

Clinical trial registration: URL: https://clinicaltrials.gov/. Unique identifier: NCT01936675.

Keywords: coronary disease; electronic health records; genetic testing; polymorphism, genetic.

Figure 1

Study Design. A, Of ~30,000 individuals available in the Mayo Clinic BioBank, ~2,000 met the screening criteria. A random 1,000 were selected, with 966 successfully genotyped. After targeted recruitment of at least 110 individuals with high GRS and 110 with average/low GRS, 216 participants enrolled, then 9 withdrew. Thus, 207 were randomized to the CRS and GRS groups; 203 remained at follow-up. Information seeking (circle) was assessed at baseline and at three and six months post-disclosure. Information sharing (triangle) was assessed at three and six months post-disclosure. CHD = coronary heart disease; CRS = conventional risk score; GRS = genetic risk score.

Figure 2

Information seeking and sharing. a, Internet use and EHR/PHR access at baseline and/or 3 and 6 months after risk disclosure, with significant p-values (*P<0.05) for the mean difference between values at 3 and 6 months post-disclosure; shared decision-making for statin initiation and documentation of subsequently lowered LDL-c levels in the chart are completed by or at 3 months post-disclosure, prior to observation of significant changes in information seeking and sharing survey responses between the CRS and GRS groups from 3 to 6 months post-disclosure. b, Information sharing at 3 months post-disclosure, with significant p-values (*P<0.05) for the mean difference between values at 3 and 6 months post-disclosure. c, Sharing radius (see Figure S3) at 3 months post-disclosure, with distribution skewed towards a maximum score Σ=4 for GRS participants. d, The time course of statin use and lowering of LDL-C levels in CRS and GRS participants potentially mirrors significant changes in information seeking and sharing; LDL-C decreased from baseline significantly more in GRS participants, due to higher statin use relative to CRS participants. CHD = coronary heart disease; CRS = conventional risk score; EHR = electronic health record; GRS = genetic risk score; LDL-C = serum calculated low density lipoprotein; PHR = personal health record.