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Research on the perceived utility of genomic sequencing has focused primarily on pediatric populations and on individuals and families with rare genetic diseases. Here, we evaluate how well a multifaceted perceived utility model developed with these populations applies to a diverse, adult population aged 18-49 at risk for hereditary cancer and propose new considerations for the model. Participants received clinical genomic sequencing in the Cancer Health Assessments Reaching Many (CHARM) study. Semi-structured qualitative interviews were conducted with a subset of participants at one and six months after results disclosure. We used an approach influenced by grounded theory to examine perceptions of the utility of genomic sequencing and analyzed how utility in CHARM mapped to the published multifaceted perceived utility model, noting which domains were represented or absent, and which were most salient to our population. Participants' discussions of utility often involved multiple domains and revealed the variety of ways in which receiving sequencing results can impact one's life. Results demonstrated that an individual's perception of utility can change over the life course when sequenced at a relatively young age and may be influenced by the resources available to them to act on the results. Our findings demonstrate the relevance of a multifaceted perceived utility model for a diverse adult population at risk for hereditary cancer. We identified refinements that could make the model more robust, including emphasizing the overlapping nature of the domains, and the importance of life stage and personal resources to the perception of utility.

This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this one-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.

Engaging youth as peer educators has yet to be considered to promote literacy concerning conjoint genetic and environmental (G x E) influences on health conditions. Whether youth living in Low and Middle Income Countries (LMICs) could and would be willing to serve as lay educators of G x E education is unclear. A cross-sectional survey of youth living in Southern Ethiopia was conducted from August to September 2017. Trained data collectors administered the survey on 377 randomly selected youth who ranged in age from 15-24; 52% were female and 95% reported having some formal education. Self-reported willingness and a constructed competency score were assessed. Bivariate analyses tested for factors associated with willingness and competency to serve as lay GxE literacy builders. Competency and willingness were significantly greater (p<0.05) for youth who: were male, had some formal education, and had civic or leadership experience. Differences in median willingness were significant for youth who scored as more competent versus those who scored as less competent (p<0.001). There were no characteristics that moderated the association of competency with willingness. Youth peer educator programs hold promise for disseminating improved G x E literacy and reducing stigma associated with deterministic misunderstandings. Thoughtful recruitment and training strategies will be needed to ensure that the broadest representation of youth in LMIC contexts have the opportunity to serve in this role, particularly girls and those without formal education.

The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals (UH) distributed in all Brazilian regions. To map the availability and distribution of the BPCCPRD diagnostic procedures in the Brazilian Unified Health System through RARAS. Data were collected through a questionnaire on the REDCap platform, with 22 questions regarding the availability of procedures. Thirty-seven coordinators from RARAS participating centers received the questionnaire link for participation by email from August/2020 to March/2021. All participating institutions ethically approved this project. Of the 37 institutions, 23 (62.16%) offered cytogenetic tests, 20 (54.05%) offered molecular procedures, and 22 (59.46%) offered inborn errors of metabolism (IEM) diagnostic tests. The identification of urinary glycosaminoglycans by thin-layer chromatography, electrophoresis, and/or quantitative measurement had the highest outsourcing rate. On the other hand, the procedure most frequently performed on-site was the peripheral blood karyotype with band technique. It was observed that 10 of the 37 centers (27%) did not provide access to investigated procedures (on-site or outsourced). The North and Midwest regions stood out in terms of the unavailability of such techniques in at least 40% of the evaluated institutions. This study reveals large discrepancies in the supply of diagnostic procedures in the Brazilian territory. Moreover, there is a broad collaboration between services through the outsourcing of multiple diagnostic techniques to address this issue. Finally, this work corroborates the importance of mapping services for the diagnosis and treatment of individuals with RDs to propose actions for the better supply and distribution of these procedures.

Federal agencies have instituted guidelines to prioritize the enrollment and retention of diverse participants in precision medicine research (PMR). Prior studies examining participation of minoritized communities have shown that potential benefits represent a key determinant. Human subjects research guidance, however, conceptualizes potential benefits narrowly, emphasizing generalized advances in medical knowledge. Further, few studies have provided qualitative data that critically examine how the concept of 'benefit' is interpreted or challenged in the context of research practice. This paper examines the experiences of PMR investigators and frontline research staff to understand how standard approaches to benefit are received, contested, and negotiated "on-the-ground." Findings are drawn from a qualitative project conducted across five U.S.-based, federally-funded PMR studies. Data collection included 125 in-depth interviews with a purposive sample of investigators, research staff, community advisory board members, and NIH program officers associated with these PMR studies. Researchers report that the standard approach to benefit-which relies on the premise of altruism and the promise of incrementally advancing scientific knowledge-is frequently contested. Researchers experience moral distress over the unmet clinical, psychosocial, and material needs within the communities they are engaging. Many believe the broader research enterprise has a responsibility to better address these needs. Researchers frequently take issue with and sometimes negotiate what is owed to participants and to their communities in exchange for the data they provide. These experiences of moral distress and these improvisations warrant systematic redress, not by individual researchers but by the broader research ethics infrastructure.

Genetic discrimination (GD) in the context of life insurance is a perennial concern in Australia and internationally. To address such concerns in Australia, an industry self-regulated Moratorium on Genetic Tests in Life Insurance was introduced in 2019 to restrict life insurers from using genetic test results in underwriting for policies under certain limits. Financial advisers (FAs) are sometimes engaged by clients to provide financial advice and assist them to apply for life insurance. They are therefore well-placed to comment on GD and the operation of the Moratorium. Despite this, the financial advising sector in Australia have yet to be studied empirically with regards to GD and the Moratorium. This study aims to capture this perspective by reporting on interviews with the financial advising sector. Ten semi-structured qualitative interviews were conducted with FAs and key informants and analysed using thematic analysis. Discussion/ conclusion(s): Participants' level of awareness and understanding of the Moratorium varied. Participants reported mixed views on the Moratorium's effectiveness and how it operates in practice, and perceived industry compliance. Participants also provided reflections on Australia's current approach to regulating GD, with most participants supporting the concept of industry self-regulation but identifying a need for this to be supplemented with external oversight and meaningful recourse mechanisms for consumers. Our results suggest that there is scope to increase FAs' awareness of GD, and that further research, consultation and policy consideration are required to identify an optimal regulatory response to GD in Australia.

Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate in genetic screening for pathogenic variation in medically important genes provided an opportunity to evaluate these factors. We analyzed screening enrollee survey data to understand factors most important and least important in decision-making about screening overall and across different race and ethnicity groups. Electronic health record race and ethnicity and survey-reported race and ethnicity were compared to assist with interpretation. Comments provided about reasons for not enrolling in screening were analyzed using content analysis. Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening and regrets about screening and screening being against one's moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don't want to know, and challenges with study logistics. Our results highlight important motivators for receiving screening and areas that can be addressed to increase screening interest and accessibility. This knowledge can inform future population screening program design including recruitment and education approaches.

A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging, and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach. We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who can answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders. Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.