Age and perceived risks and benefits of preventive genomic screening

Abstract

Purpose As genome sequencing moves from research to clinical practice, sequencing technologies focused on “medically actionable” targets are being promoted for preventive screening despite the dearth of systematic evidence of risks and benefits and criteria for who should be screened. This study investigates researchers’ and research participants’ perceptions of these issues within the context of a preventive genomic screening study, GeneScreen. Methods We recorded researcher deliberations regarding age eligibility criteria and the risks and benefits of screening, and conducted interviews with 50 GeneScreen participants about their motivations for joining and perceptions of risks and benefits. Results Researchers made assumptions about who would want and benefit from screening based on age. After discussion, researchers opted not to have an upper age limit for enrollment. Participants of all ages perceived similar benefits, including prevention, treatment, and cascade testing, and similar risks such as insurance discrimination and worry. Conclusion While clinical benefits of preventive genomic screening for older adults are debatable, our respondents perceived a range of benefits of screening in both clinical and research settings. Researchers and clinicians should carefully consider decisions about excluding older adults and providing information about benefits and risks across age groups.

Assessing the Implications of Positive Genomic Screening Results

“…These results provide evidence supporting the likelihood that voluntary programs without an upper age limit will include interested older adults [9] who will interpret the implications of their positive genetic findings through the lens of age. Given that the average age for all participants was 60, it is not surprising that those who received positive results were also older.…”

“…Another frequently cited benefit of genetic testing, in terms of both population health and cost-effectiveness, is the identification of at-risk family members through cascade testing [30][31][32]. In fact, many people who joined GeneScreen, especially older participants, cited this benefit as a reason to join [9]. Our interviews with people who received positive results reveal a mixed picture regarding family testing.…”

“…One important programmatic and scientific question is whether to target screening toward certain age groups, and/or to include an upper age limit on population screening programs since the benefits and harms of screening may not be consistent throughout the lifespan [4,8]. Reducing morbidity and mortality risks and increasing lifespan may not be realized to the same degree among older individuals because of competing causes of death [8,9]. Risks of recommended interventions for those who screen positive may differ, such as increased risk for perforation of the colon during colonoscopy among individuals over 75 [10,11].…”

“…We examine the issue of older age as it relates to the potential harms and benefits of screening through a preventive genomic study, GeneScreen, in which 262 adults across a broad age range received screening for 17 genes related to 11 diverse, medically actionable conditions [2,15], ranging from cancer syndromes (e.g., hereditary breast and ovarian cancer, Lynch syndrome) to cardiovascular conditions (e.g., long QT, familial hypercholesterolemia). Previously, we examined participants' perceptions of age eligibility criteria prior to receiving screening results [9] and found that participants of all ages perceived the same benefits of screening, including the potential for prevention and treatment, gaining peace of mind, sharing information with family, advancing science/research and helping others. Those who noted risks, including worry and discrimination, did not differ by age.…”

Attitudes Toward Genetics and Genetic Testing Among Participants in the Jackson and Framingham Heart Studies

“…Religious attendance among JHS participants was overwhelmingly high, perhaps explaining why the effect was only seen in FHS. Although we did not have an a priori hypothesis related to employment status, being retired might eliminate concerns about employment discrimination, allowing people to focus more on the potential benefits of genetics (Waltz, Cadigan, Prince, Skinner, & Henderson, 2018).…”