Knowledge and opinions of the genetic counseling profession of high school students from underrepresented backgrounds.

The field of genetic counseling began in the 1960s, with young, white women quickly comprising the profession's core constituency. The field has made many efforts to increase its racial and ethnic diversity with little success. The 2019 Professional Status Survey, distributed by the National Society of Genetic Counselors, reported that 90% of the respondents identified as white, 95% as female, and 70% under the age of 40. This qualitative study explored the current career interests of high school students from underrepresented backgrounds as well as their understanding of and thoughts about the genetic counseling profession. Sixteen semi-structured interviews were performed with high school students from the Boston Preparatory Charter School. Major themes emerged reflecting that the participants (a) were science-minded and empathetic, (b) had not heard of genetic counseling but were interested in learning more about it, and (c) provided perspectives different from those historically over-represented in the genetic counseling workforce. Implications for genetic counselors include the need for improved recruitment strategies accessible to individuals of underrepresented backgrounds who might be interested in the profession and the importance of acknowledging that valuable contributions and improvements to the field could be made by such individuals. Future studies could encompass a larger sample size; explore the interests, opinions, and perspectives of high school students with minority identities other than racial and/or ethnic minority; or assess the success of current or new recruitment methods.

The importance of personalismo: Navigating obstacles in recruitment strategies for Spanish speakers in marginalized communities.

Recruitment obstacles with Spanish-speaking individuals and members of marginalized communities have been documented in the literature in narrative form, but quantitative data on effective strategies are limited. Within our research protocol assessing the impact of a storytelling intervention on knowledge and uptake of cell-free DNA (cfDNA) aneuploidy screening, three different recruitment strategies were trialed and enrollment rates were compared. Throughout the study, field notes were collected from observations in recruitment efforts. We demonstrate the effectiveness of language-concordant, personal interactions, and culturally tailored materials for recruitment of Spanish-speaking participants into genomic research studies. We also offer commentary on the experience of the researchers that provides insights to inform recruitment methods for marginalized communities.

A Systematic Review of Randomized Controlled Trials to Assess Outcomes of Genetic Counseling.

With the advancements in precision medicine and health care reform, it is critical that genetic counseling practice respond to emerging evidence to maximize client benefit. The objective of this review was to synthesize evidence on outcomes from randomized controlled trials (RCTs) of genetic counseling to inform clinical practice. Seven databases were searched in conducting this review. Studies were selected for inclusion if they were: (a) RCTs published from 1990 to 2015, and (b) assessed a direct outcome of genetic counseling. Extracted data included study population, aims, and outcomes. Risk of bias was evaluated using the Cochrane Handbook for Systematic Reviews of Interventions guidelines. A review of 1654 abstracts identified 58 publications of 54 unique RCTs that met inclusion criteria, the vast majority of which were conducted in cancer genetic counseling setting. Twenty-seven publications assessed 'enhancements' to genetic counseling, and 31 publications compared delivery modes. The methodological rigor varied considerably, highlighting the need for attention to quality criteria in RCT design. While most studies assessed several client outcomes hypothesized to be affected by genetic counseling (e.g., psychological wellbeing, knowledge, perceived risk, patient satisfaction), disparate validated and reliable scales and other assessments were often used to evaluate the same outcome(s). This limits opportunity to compare findings across studies. While RCTs of genetic counseling demonstrate enhanced client outcomes in a number of studies and pave the way to evidence-based practice, the heterogeneity of the research questions suggest an important need for more complementary studies with consistent outcome assessments.

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

PURPOSE: This study investigated how genome sequencing results affect health behaviors, affect, and communication. METHODS: We report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixed-methods design was used to explore respondents' use, communication, and perceived utility of results. RESULTS: Most participants (72%) shared their result with at least one health-care provider, and 31% reported subsequent changes in the health care they received. 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. The majority (93%) shared their result with at least one family member. Participants described deriving personal utility from their results. CONCLUSION: This article 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.Genet Med 18 6, 577-583.