Participant use and communication of findings from exome sequencing: a mixed-methods study

Abstract

PurposeThis study investigated how genome sequencing results affect health behaviors, affect, and communication.MethodsWe report on 29 participants who received a sequence result in the ClinSeq® study, a cohort of well-educated, post-reproductive volunteers. A mixed methods design was used to explore respondents’ use, communication, and perceived utility of results.ResultsMost participants (72%) shared their result with at least one health care provider, and 31% reported changes to their health care. Participants scored high on the Positive Experiences subscale and low on the Distress subscale of a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA). The majority (93%) shared their result with at least one family member. Participant’s described deriving personal utility from their results.ConclusionsThis paper is the first to describe research participants’ reactions to actionable sequencing results. Our findings suggest clinical and personal benefit from receiving sequencing results, both of which may contribute to improved health for the recipients. Given the participants’ largely positive or neutral affective responses and disclosure of their results to physicians and relatives, health care providers should redirect concern from the potential for distress and attend to motivating patients to follow their medical recommendations.

Race, Genomics and Chronic Disease: What Patients with African Ancestry Have to Say

“…30 In previous studies, African Americans have shown theoretical interest in genetic testing to learn about risks for kidney disease. 31 We extend these findings to patients who were actually tested and received results. 22,25 …”

Views of Cohort Study Participants about Returning Research Results in the Context of Precision Medicine

“…As has been previously observed, merely returning results to participants without providing the resources and support necessary to understand and utilize this information can be a potential harm to the participants [21]. Previous studies have shown that negative affective impact of receiving even high impact genetic test results are rare in participants who choose to participate in genetics research projects if counseling about the health implications of results is provided through the research project [22]. Returning results should be considered when developing a research project, as providing adequate funding for staff time and other resources for this activity can be costly [23].…”

Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports

“…The genomic counseling intervention, in addition to providing more insight into the interrelationship between genetics and health behaviors as contributors of risk, may also have countered existing causal genetic deterministic beliefs and emotions predicated by personal disease experience. This may allow, in turn, greater understanding of the multifactorial nature of complex disease and an opportunity for additional interventions to improve patient-centered health outcomes (Austin, 2015; Lewis et al, 2015; McBride et al, 2015; Ormond, 2013). As all study participants received pre-test education during the informed consent session, and had access to online educational resources, genomic counseling may also have served to reinforce the test report message, and increase confidence in use of multi-page, detailed results.…”

“…Given the steady increase in the availability of genomic based results, including those available through online formats, there remains appreciable need for additional research on the effectiveness and extension of genetic/genomic counseling service delivery beyond traditional referral reasons (i.e. Mendelian disease risk) and service delivery approaches (Haga et al, 2014; Lewis et al, 2015; Ormond, 2013; Shiloh et al, 2015; Trepanier & Allain, 2014). These include phone (telemedicine) as well as use of e-learning approaches (both static and interactive) either alone or to supplement counseling (Birch, 2015; Haga et al, 2014).…”