Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease

Abstract

Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3%) chose to receive SF and PR, 66 (8.4%) chose PR only, 65 (8.2%) wanted no results, and 40 (5.1%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79%, P=0.009) and European ancestry (EA) (87.7 vs 73%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82% NEA vs 88.3% EA, P=0.09) but significantly less likely when consented by a physician (67.4% NEA vs 85.4% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7% NEA vs 5.4% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20% declined some or all results, highlighting the importance of research participant choice.

Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results

“…Additionally, several of the usual care interviewees elaborated about certain categories that they perceived as being less valuable relative to their concerns, and most were able to appreciate different reasons that others might have for choosing between categories, which highlights how providing patients a meaningful opportunity to decline certain results can demonstrate respect for patient autonomy. In previous studies, patients have similarly identified individual choice as a critical element of their decision‐making process, even if they chose to receive all categories of results they were offered (Clift et al, ; Facio et al, ; Marshall et al, ; Schneider et al, ; Wade & Elliott, ), particularly among patients of non‐European ancestry (Fiallos et al, ). However, in the context of our study, which included patients of reproductive age who were actively engaged in family planning, an emphasis on choice may be especially important for preserving patients’ sense of control over their reproductive decisions.…”

In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research

“…For instance, studies have found that women are more likely than men to express interest in genetic testing [14] and that views about RoR may be impacted by race and ethnicity. A focus group study, e.g., found that African Americans may be less inclined to receive genomic results compared to non-African Americans [15], and another large study of families with a Mendelian disease found that participants of non-European ancestry were more likely than participants of European ancestry to decline all results [16]. A recent study further found that educational attainment affected responses, such that participants with a high school diploma or less viewed genetic risk of disease to be the least valuable data, compared to participants with a higher educational attainment, who viewed such data as most valuable [17].…”

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

“…In contrast, recommendations from the European Society of Human Genetics recommend that steps be taken to avoid the discovery of IR in sequence analysis, and that variants lacking in clinical utility should not be analyzed or reported. However, literature indicates that the majority of patients are interested in learning both medically actionable and non-medically actionable IR [2]. While a majority of patients choose to learn IR, variation exists in patient preferences [2], and patients value having a choice about which IR they receive [3], indicating a need for a tool to help personalized decision-making.…”