Do research participants share genomic screening results with family members?

Abstract

The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched following clinical genetic testing, the factors impacting the dissemination of genomic screening results are unknown. Using the pragmatic Electronic Medical Records and Genomics Network‐3 (eMERGE‐3) study, we explored the reported sharing practices of participants who underwent genomic screening across the United States. Six eMERGE‐3 sites returned genomic screening results for mostly dominant medically actionable disorders and surveyed adult participants regarding communication of results with first‐degree relatives. Across the sites, 279 participants completed a 1‐month and/or 6‐month post‐results survey. By 6 months, only 34% of the 156 respondents shared their results with all first‐degree relatives and 4% did not share with any. Over a third (39%) first‐degree relatives were not notified of the results. Half (53%) of participants who received their results from a genetics provider shared them with all first‐degree relatives compared with 11% of participants who received their results from a non‐genetics provider. The most frequent reasons for sharing were a feeling of obligation (72%) and that the information could help family members make medical decisions (72%). The most common reasons indicated for not sharing were that the family members were too young (38%), or they were not in contact (25%) or not close to them (25%). These data indicate that the professional returning the results may impact sharing patterns, suggesting that there is a need to continue to educate healthcare providers regarding approaches to facilitate sharing of genetic results within families. Finally, these data suggest that interventions to increase sharing may be universally effective regardless of the origin of the genetic result.

Knowledge, Attitude, and Concerns related to Next Generation Sequencing in General Population in India: A Pilot Study

“…However, majority (77.7%) would not want the results shared directly with their relatives by the doctor/ GC without their permission. Studies exploring willingness to share genetic ndings with relatives have also reported similar general willingness to share the results and forgo one's own con dentiality [23,24]. Moreover, there was a consensus among the respondents for knowing the secondary ndings for treatable as well as untreatable conditions and VUS.…”

Engaging Adolescents and Young Adults in Decisions About Return of Genomic Research Results: a mixed-methods longitudinal clinical trial protocol

“…Four additional questionnaires developed or adapted by the study team, including Perceived Utility, Results Congruency, Sharing of Results, and Family Testing (30), are also administered at T4. Perceived Utility measures participants' perceived usefulness of the return of result information and return of result process, while Results Congruency measures whether participants feel the results received match what they were expecting.…”

Ethical considerations for precision psychiatry: A roadmap for research and clinical practice

“…Communicating risk estimates properly should also include an adequate knowledge of the limitations of the methodology used to produce them and their discussion with the service users and their families ( Smeland and Andreassen, 2021 ). For example, studies show a need to educate healthcare providers regarding approaches to facilitate sharing of genetic results within families ( Wynn et al, 2021 ). This is particularly pertinent as genetic results may have implications for more than one family member.…”