Introduction
Genome sequencing (GS) can identify genetic factors that may influence variability in COVID-19 symptoms and outcomes. In this context, GS can also be used to screen for secondary findings (SF) about inherited predispositions to several other diseases. Attitudes towards the use of GS as a screening tool in the general Canadian population is limited, warranting exploration of individuals’ uptake of SF, knowledge of GS, as well as attitudes toward healthcare and genetics. This study aims to: 1) Determine the uptake of SF (clinically actionable conditions, rare genetic conditions, carrier status, drug reactions, and polygenic risk scores for common conditions) from GS; 2) determine baseline attitudes toward genetics and healthcare; 3) assess the impact of pre-test genetic counseling (GC) interventions on GS knowledge; and, 4) assess the impact of learning SF on patient attitudes, feelings, health outcomes, and health behaviors.
Methods
Online surveys were administered to ostensibly healthy individuals previously diagnosed with COVID-19 after consent but before pre-test GC. Surveys administered at baseline (T0) assessed: 1) sociodemographic characteristics; 2) SF preferences; 3) knowledge of GS; 4) attitudes toward healthcare, genetics and technology; and, 5) health literacy. Surveys administered after pre-test GC and return of GS results will address health outcomes and behaviors. Responses were analyzed with descriptive statistics.
Results
To date, 410/548 responses were received for at least part of survey T0. The majority were female (57%), ≥40 years of age (54%), and had a Bachelor’s degree or higher (67%). Fifty-four percent indicated they were white/European. Almost all (407/410; 99%) said they wished to learn SF from GS. Eighty-six percent (352/407) selected clinically actionable findings, 74% (305/407) rare genetic diseases, 86% (353/407) common conditions, 81% (331/407) carrier status, and 83% (340/407) drug reactions. Less than 50% (n≤205/410) of respondents answered correctly to 5/11 statements about GS knowledge. Forty-eight percent (178/372) had positive attitudes toward genetics and 52% (194/372) had negative/mixed attitudes. Approximately half (175/374; 47%) agreed that the government will ensure a high-quality healthcare system, and 86% (320/374) reported it was important for them to access advanced tests and medical procedures. Most (347/370; 94%) reported that decisions about healthcare programs should be based primarily on the advice of experts, and 6% (23/370) on the general public’s views. Most (337/369; 91%) reported that decisions about healthcare programs should be based on scientific evidence of the risks and benefits involved, and 9% (32/369) on moral/ethical issues. Overall, health literacy was adequate (mean score 18.5 out of 20, SD 2.3, n=371). Adequate health literacy scores fall into the highest of three categories within the BRIEF health literacy scale (scores 4-12: inadequate; 13-16: marginal; 17-20: adequate). Post-counseling and return of results survey data on attitudes, knowledge, and health outcomes/behaviors will be presented at the conference.
Conclusion
These preliminary findings suggest that most individuals wish to learn SF from GS despite low baseline knowledge. Generally positive and/or mixed attitudes toward healthcare and genetics in addition to relatively high health literacy scores suggests that the use of GS as a screening tool in healthy Canadians may be accepted. Pre-test GC to discuss SF and GS may improve participants’ knowledge. Future surveys will assess the impact of GC interventions and return of SF results on knowledge, feelings, and health behaviors in the context of an otherwise healthy population.