Sinclair, Jessica A

This secondary analysis of a nonrandomized clinical trial identifies which participant characteristics were associated with selection of centralized or remote trial engagement.

Abstract The 2022 Supreme Court of the United States' decision in Dobbs v. Jackson Women's Health Organization eliminated federal abortion protections, returning abortion regulation to the states. However, in many states, abortion was already heavily restricted prior to this decision. This study aimed to assess the impact of dynamic restrictive legislation passed from 2020 to 2024 on the prenatal genetic counseling process and to describe similarities and differences between state policy environments by focusing on a group of neighboring states with different legislation. Twenty‐two genetic counselors practicing in Ohio, Kentucky, and Indiana participated in focus groups ( n = 6) and one individual interview. The research team conducted reflexive thematic analysis of qualitative data. We found that participants' perspectives on the effects of legislation varied depending on state abortion policy, patient population served, and institutional resources and directives under which they worked. Most participants expressed changes to the way they document patient visits, approach counseling appointments with patients, and provide patients with resources in lieu of referrals to abortion care. Additionally, many participants expressed feeling more motivation and less burnout in the wake of restrictive legislation—a change from previous study findings. This study provides insights into the ways in which federal case law and state regulations on abortion have impacted genetic counselors' approaches to healthcare practices, documentation, and referrals to abortion care in three states that have experienced dynamic abortion regulatory environments since 2020. Findings may be useful for guiding additional support from professional societies, healthcare institutions, and training programs.

AbstractAlthough guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to, and perceived future utility of learning genomic information actionable in adulthood. We conducted qualitative interviews with 28 youth ages 15–22 without clinical indications for genetic screening who, through enrollment in a genomic decision‐making research study, learned they were carriers of an autosomal recessive condition, or anticipated being carriers but received negative results. Semi‐structured interviews occurred virtually between 3 and 16 months after the return of results. Interpretative description guided deductive and inductive coding of transcripts. Of the 28 participants, 21 received positive carrier results, and 7 received negative results. Although some carriers felt the result was unexpected, they expressed relief overall and did not feel worried about their result. Participants with negative results also felt relief about their results. All participants correctly described what a carrier result means, but some carriers could not remember the condition associated with their result. No participant regretted learning personal genomic information, and all reported their results helped them better understand risks to future children. Carriers who perceived the condition for which they were carriers as more severe and/or those familiar with the condition were more likely to remember their result and consider future reproductive options. Carriers also felt testing at their respective age allowed increased familiarity with results and more time to gather information and decide on the personal utility of the information. Our findings suggest early access to genomic information for some youth may allow integration of carrier information over time with minimal adverse effects. More research is needed to assess long‐term outcomes among carriers.

AbstractWith increasing opportunities for minors to undergo genomic testing, factors influencing young people's decision stability and instability regarding genomic testing are unclear. This interpretive description study examines decision stability when adolescents (13–17) and young adults (18–21) decide whether to learn genetic testing results. Adolescents and young adults enrolled in a clinical trial chose whether they wanted to learn genetic testing results and could modify their decisions during a study visit or 2 weeks later. A purposive sample of clinical trial participants was invited to participate in an interview exploring their decision preferences, confidence level, and factors impacting decision stability. Twenty‐two participants chose to learn all (n = 7), some (n = 7), or no genetic test results (n = 8). Perceptions of the impact of personal genetic information on one's quality of life and sense of reproductive goals and responsibilities were driving factors for people who chose to learn no or some genetic results, while curiosity influenced those who chose to learn all. Prior health and healthcare experiences and others' influence also factored into decision‐making about receiving results. Decision stability varied among individuals but increased over time and was positively influenced by parents, baseline decision confidence, and fear of missing out on the opportunity to learn genetic information. Participants felt favorably about the opportunity to change their decision 2 weeks after the study visit. Among study participants, decision stability was high, as was satisfaction with decisions regarding how much personal genetic information to learn. The results suggest that adolescent and young adult genetic research participants may experience high decision stability and confidence in making choices regarding personal genetic testing, especially when a window of opportunity for change is available. Researchers and clinicians should consider the benefits and challenges of offering multiple checkpoints to bolster decision stability.