The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services. This report summarizes the formation, implementation, and outcomes of the 2019 Diversity and Inclusion Task Force (TF) of the National Society of Genetic Counselors (NSGC), including the group's responses to their allotted charges from the NSGC Board of Directors. The recommendations generated by the TF aim to aid in the (1) establishment of infrastructure for ongoing diversity, inclusion, and equity (DEI) work by collaborating with a DEI organizational expert and forming a DEI advisory group within the NSGC, (2) development of specific short‐term DEI initiatives, and (3) identification of seven areas of focus areas that must be addressed in order to create meaningful and measurable DEI improvements. The efficacy of these recommendations will depend on the consistency and creativity of implementation, shared responsibility, sufficient resources allocated to DEI initiatives, and measurable outcomes.
Culture bump theory provides a practical and goal‐oriented framework for addressing cultural differences that can impact communication and patient care. Differences in language and culture, coupled with a lack of knowledge or competency regarding these differences, often contribute to ‘culture bumps’ between healthcare providers and patients. Interpreters serve the unique role of ‘cultural brokers’, going beyond bridging the linguistic divide to close cultural gaps. Research from the perspective of interpreters focused on culture bumps and cultural competency within genetic counseling sessions is lacking. We aimed to assess interpreters’ experiences with significant ‘culture bumps’ in genetic counseling sessions, obtain interpreters’ perspectives regarding genetic counselors’ gaps in cultural competency, and explore interpreters’ perceptions of the impact of cultural competency on the genetic counseling sessions. Spanish and Polish interpreters experienced in working in person with genetic counselors were recruited through interpreter supervisors at medical centers, hospitals, and interpreter training and service agencies in the Chicagoland area. Using a semi‐structured interview guide, phone interviews were conducted with eligible participants and transcribed verbatim. A codebook was developed between two coders, and inter‐rater reliability was assessed (κ = 0.82). Grounded theory was used as a guiding principle to code data. The results of this study revealed significant culture bumps identified by interpreters in genetic counseling sessions in the areas of exchange of information, gender and family dynamics, and incorporation of religious and faith beliefs. Interpreters identified the impact on rapport, both negative and positive, due to gaps and strengths in cultural competency, respectively. These responses offer useful insight for training and providing practicing genetic counselors with tools to promote cultural competency, in order to provide optimal care for patients with limited English proficiency (LEP). Further research is necessary to explore these concepts within other languages and cultures, as well as to determine the most appropriate methods for implementing these suggestions for improvement.
Introduction:There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. Methods: The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. Results: We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. Conclusion: There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
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