Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing

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 coronary heart disease (CHD) to individuals influences information seeking and sharing. Methods and Results The Myocardial Infarction Genes (MI-GENES) study randomized participants (n=203) aged 45–65 years who were at intermediate CHD risk based on conventional risk factors and not on statins, to receive their conventional risk score (CRS) alone or also a genetic risk score (GRS) 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 months post-disclosure, GRS participants were more likely than CRS participants to visit a website to learn about CHD (OR 4.88 (1.55–19.13), P=.01), use the internet for information about how genetic factors affect CHD risk (OR 2.11 (1.03–4.47), P=.04), access their CHD risk via a Patient Portal (OR 2.99 (1.35–7.04), P=.01), and discuss their CHD risk with others (OR 3.13 (1.41–7.47), P=.01), particularly their siblings (OR 1.92 (1.06–3.51), P=.03), extended family (OR 3.8 (1.37–12.38), P=.01), co-workers (OR 2.42 (1.09–5.76), P=.03), and primary care provider (PCP) (OR 2.00 (1.08–3.75), P=.03). Conclusions Disclosure of a GRS for CHD increased information seeking and sharing. Clinical Trial Registration https://clinicaltrials.gov/; Unique Identifier: NCT01936675.

The role of genetic testing in dyslipidaemia

“…Other methods may provide additional useful clinical information for dyslipidaemias. These techniques include: (1) proteomic methods, whereby protein expression is assessed at the cell or tissue level to indirectly evaluate gene expression; (2) metabolomics, which refers to the concurrent assessment of small molecule metabolites from serum or tissue samples to indirectly evaluate in a targeted manner variations in gene products involved in intermediate biochemical pathways or in drug metabolism; 20,21 and (3) genome-wide transcriptome analysis of RNA expression (e.g., RNASeq) that can be further used to assess gene expression and patterns of alternative RNA splicing within a cell or tissue. 22 Epigenetics is increasingly recognised as affecting genotype-phenotype relationships.…”

“…Individuals with high genetic risk were more likely to remain on their statins than those at low genetic risk or those who were not informed of their genetic profile. 20…”

Cardiovascular Precision Medicine in the Genomics Era

“…The study found no effect of GRS on lifestyle behaviors (e.g., dietary fat intake or physical activity levels), but it also found no increase in patient anxiety 34 , 36 . The research group reported in separate studies that patients who received the GRS had slightly higher perceived personal control and genetic counseling satisfaction (37) and that patients who received a GRS were more likely at 6 months post-disclosure to have sought out additional information about coronary heart disease (CHD) and genetic risk factors of CHD than patients who received a CRS (38) . Although the study was limited by lack of physician blinding and included genetic information from only 11 SNPs, it provided an important example of a GRS affecting clinical measures, underscoring the potential of such information to change practitioner prescribing behavior.…”

Genetics in the 21st Century: Implications for patients, consumers and citizens

“…Therefore, the impact of genomic information naturally extends beyond a healthcare encounter–through conversation it travels from the patient, out to their extended family and to people who are not yet patients. Such people could be considered a type of ‘patient in waiting’ 21 ; we don’t yet know where and how they seek out information and meaning, but it is likely they look to the media 22 , popular culture 23 and the Internet 24 for insight. It is important when assessing how people respond to genetic information to ensure that ’the public’ is not envisioned as a singular, unified entity.…”