Journal of Genetic Counseling最新文献

As of 2022, 89% of genetic counselors report being White, and 93% report being women. We examined diversity in genetic counseling (GC) program admission committees (ACs-who are responsible for deciding who will make up the future GC workforce) and student cohorts to understand the impact of recent diversification efforts, and where future work should be focused. One representative from each AC of the 57 accredited GC programs in North America in 2022 was invited to participate in a cross-sectional survey to provide information on the diversity of GC ACs and student cohorts between 2019 and 2022 for the following dimensions: race/ethnicity, gender, sexual orientation, disability status, neurodiversity, and rural or low socioeconomic status backgrounds. Members of 38/57 (67%) ACs participated. Using the Cochran-Armitage test for trends, significant increases were observed for the proportion of individuals of a racial/ethnic minority within ACs (from 9% in 2019 to 18% in 2022; p < 0.0001). There was no change for other minoritized social identities. There was no significant change over time in the proportion of students holding any of the minoritized social identities. A low correlation was found between the diversity of ACs and student cohorts. This study reaffirms the need for greater diversification efforts within ACs and student cohorts. Increased transparency about the social identities of AC members and about ACs' commitment to diversification may facilitate the diversification of the profession.

Direct-to-consumer (DTC) genetic testing has become incredibly popular for assessing health risk related to specific diseases. However, how this risk is conveyed and whether the limitations of the tests are fully communicated can impact how customers interpret results. Through a qualitative content analysis of three different DTC genetic testing online portals, we examine how companies communicate relative and absolute health risks, the extent to which limitations are communicated, and how this information is presented. Findings suggest that relative risk was more prominently communicated than absolute risk and that it was used to organize and prioritize results. Further, risk information was often communicated using statistical terms and concepts that may not be accessible to all users. Test limitations that were communicated included the inability to diagnose a disease, the importance of lifestyle factors, and that the tests do not account for all genetic variants. Although companies included this information, it was not visually prominent.

Hematologic malignancies (HMs) are a heterogeneous group of cancers impacting individuals of all ages that have been increasingly recognized in association with various germline predisposition syndromes. Given the myriad of malignancy subtypes, expanding differential diagnoses, and unique sample selection requirements, evaluation for hereditary predisposition to HM presents both challenges as well as exciting opportunities in the ever-evolving field of genetic counseling. This practice resource has been developed as a foundational resource for genetic counseling approaches to hereditary HMs and aims to empower genetic counselors who encounter individuals and families with HMs in their practice.

This cross-sectional survey study explores ongoing initiatives to foster diversity and inclusivity within the field of genetic counseling, specifically focusing on opportunities within graduate programs for students to enhance language and counseling skills in Spanish, thereby fostering language concordance in genetic counseling settings. With a response rate of 44.8% (26/58) across genetic counseling graduate programs, our study provides an overview of educational offerings in Spanish, encompassing patient-facing, non-patient-facing, and combined opportunities. Of the programs that completed the survey, 73.1% (19/26) offer Spanish language opportunities. Several perceived benefits were identified by those that offer opportunities, including fostering cultural humility and diversity within the field, increasing awareness and accessibility of genetic counseling services, and facilitating involvement in research within minority groups. The information gathered from this study can be a resource for graduate programs seeking insights into effective strategies to incorporate Spanish language opportunities. Additionally, these results may also serve as a source of inspiration for students who want to apply their Spanish language skills in their training and future careers. Lastly, we propose ideas to enhance and expand the training of bilingual genetic counseling students in Spanish.

The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X-linked (XL) disorders without the constraints of a predetermined, targeted gene panel. There were several limitations and challenges related to reporting and the technical aspects of ES and GS, which are listed in the discussion. We selected 150 couples from a cohort of families (trios) enrolled in a research protocol where the goal was to define the genetic etiology of disease in an affected child. Pre-existing, de-identified parental sequencing data were analyzed to define variants that would place the couple at risk of having a child affected by an AR or XL disorder. We identified 17 families who would be selected for counseling about risk alleles. We noted that only 3 of these at-risk couples would be identified if we limited ourselves to the current ACMG-recommended expanded carrier screening gene panel. ES and GS successfully identified couples who are at risk of having a child with a rare AR or XL disorder that would have been missed by the current recommended guidelines. Current limitations of this approach include ethical concerns, difficulties in reporting results including variant calling due to the rare nature of some of the variants, determining which disorders to report, as well as technical difficulties in detecting certain variants such as repeat expansions.