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.
Given the increasing demand for genetic counseling, implementation of innovative service delivery models (SDMs) has been proposed to improve access and increase the efficiency of genetic counseling services. This study investigated the key considerations in genetic counseling practices that impact the decision to implement innovative SDMs, as well as barriers and facilitators to implementation. A cross‐sectional, qualitative research design was employed, using focus groups. Genetic counselors (GCs) were recruited from respondents to an online survey about SDMs and by posting an invitation to the National Society of Genetic Counselors (NSGC) listserv. A total of 30 participants participated in either in‐person (n = 3) or online (n = 5) focus groups, facilitated by members of the Service Delivery Model subcommittee of the NSGC Access and Service Delivery Committee. Transcribed audio and written notes from the focus groups were coded, utilizing an inductive thematic analysis method. Five overarching themes that impact decisions to implement and use innovative SDMs were identified: (a) Patient volume and efficiency are key motivators in trying innovative SDMs; (b) the decision to change is facilitated by available resources; (c) the implementation of innovative SDMs is multidimensional and complex process; (d) there is concern about the impact on patient–provider relationships with the utilization of innovative SDMs; and (e) measuring outcomes of innovative SDM facilitates acquisition of additional resources and support. Approaches to innovative SDM selection and implementation vary by institution needs, resources, and population as demonstrated by the variety of approaches to similar barriers. Outcomes related to the implementation of innovative SDMs in genetic counseling practice should be measured to demonstrate the value of innovative genetic counseling SDMs, improvement of access to care, and to justify need for additional resources to support implementation of these models.
While hereditary cancer syndromes have been described and studied for centuries, the completion of the human genome project fueled accelerated progress in precision medicine due to the introduction of genetic testing in the 1990s, creating avenues for tailored treatments and medical management options. However, genetic testing has not benefited everyone equitably, with nearly all of the published work based on individuals of non-Hispanic White/European ancestry. There remains a gap in knowledge regarding the prevalence, penetrance, and manifestations of common hereditary cancer syndromes in the African-American population due to significant disparities in access and uptake of genetic testing. This review summarizes the available literature on genetic testing for breast, colon, and prostate cancers in the African-American population and explores the disparities in access to genetic testing between non-Hispanic White and African-American patients. This article also addresses the barriers to genetic testing and discrepancies in the uptake of recommendations for hereditary cancer syndromes in the African-American population when compared with non-Hispanic Whites. The review offers practice implications for many healthcare providers and demonstrates gaps in the existing knowledge to be addressed in future studies to help eliminate the persisting health disparities faced by the African-American population.
The largest proportion of hereditary melanoma cases are due to pathogenic variants (PVs) in the CDKN2A/p16 gene, which account for 20%-40% of familial melanomas and confer up to a 30%-70% lifetime risk for melanoma in individuals with these variants. In addition, PVs in the CDKN2A gene also increase risk for pancreatic cancer (~5–24% lifetime risk). Individuals with PVs in the CDKN2A gene also tend to have an earlier onset of cancer. Despite these known risks, uptake of germline testing has been limited in the past, largely due to perceptions of limited benefit for patients. Prevention recommendations have been developed for individuals with CDKN2A PVs as well the providers who care for them. On the patient level, behavioral modifications regarding melanoma prevention such as wearing sunscreen, limiting prolonged sun exposure and practicing general sun safety can help reduce risks. Germline testing can provide motivation for some individuals to adhere to these lifestyle changes. On the provider level, pancreatic cancer surveillance for individuals with CDKN2A PVs has been increasingly endorsed by expert consensus, although the efficacy of these surveillance methods remains under study. This review summarizes the updated surveillance guidelines for individuals with CDKN2A PVs and explores the impact of genetic counseling and testing in influencing behavioral changes in these individuals.
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