RESUMO
Genetic testing for Parkinson's disease (PD) is increasing globally, and genetic counseling is an important service that provides information and promotes understanding about PD genetics and genetic testing. PD research studies have initiated outreach to underrepresented regions in North America, including regions in Latin America, such as the Dominican Republic (DR); some studies may include return of genetic test results. Thus, understanding what individuals know about PD, genetic testing for PD, and their interest in speaking with a genetic counselor, is crucial when assessing readiness. In this cross-sectional study, a survey was distributed to people with Parkinson's disease (PwP) and their unaffected biological relatives in the DR. Questions assessed genetics knowledge, attitude toward genetic testing, and interest in genetic testing and counseling. Of 45 participants, 69% scored the maximum on the attitude scale, indicating an overall positive attitude toward genetic testing; 95% indicated interest in genetic testing for PD, and 98% were at least somewhat interested in meeting with a genetic counselor. The mean PD genetics knowledge score was similar to previously published data. Through free text responses, participants expressed a desire to know more about PD treatment and management, prevention, cause, and their personal risk for PD. These results provide further evidence of readiness for genetic testing in this country but also underscore some gaps in knowledge that should be addressed with targeted educational efforts, as part of building genetic testing and counseling capacities.
RESUMO
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.
