Compassion and equity-focused clinical genomics training for health professional learners.

There remains an urgent need for expanded genomics training in undergraduate medical education, especially as genetic and genomic assessments become increasingly important in primary care and routine clinical practice across specialties. Physician trainees continue to report feeling poorly prepared to provide effective consultation or interpretation of genomic test results. Here we report on the development, pilot implementation, and evaluation of an elective offering for pre-clinical medical students called the Sanford Precision Health Scholars Immersive Learning Experience (PHS), which was designed leveraging genetic counseling expertise as one means to address this need. This 9-week course, piloted in Fall 2021 at UC San Diego, afforded students the opportunity to build technical skills and competencies in clinical genomics while identifying, addressing, and engaging with pervasive health disparities in genomics. Interactive exercises focused students' learning on strategies for empathic and compassionate patient interactions while supporting the application of concepts and knowledge to future practice. Upon completion of the course, participants reported increases in confidence related to skills required for clinical genomics practice. Drawing on learnings from this pilot implementation, recommendations for refining the program include deepening pedagogical engagement with ethical issues, expanding the offering to trainees across health professions, including pharmacy students, and incorporating an optional experiential learning component. Educational offerings, like PHS, that are designed with the input of genetic counseling expertise may ease pressures on the genetic counseling profession by building a more genomic-literate healthcare workforce that can better support efforts to expand access for patients.

A qualitative focus group analysis: Increasing fieldwork capacity in genetic counseling training programs.

Genetic counselors are an integral part of the healthcare system; however, the number of genetic counselors in many parts of the United States is limited, impacting access to comprehensive healthcare for all patients. One solution to addressing this deficit includes modifying genetic counseling training programs to increase student enrollment. Fieldwork capacity, driven by a limited number of rotation sites and supervisors, produces a significant bottleneck to entering the profession. Other professions have reported on techniques to increase fieldwork capacity; however, the practicality of these techniques for genetic counseling training has yet to be explored. This study seeks to investigate the perspectives of key stakeholders in genetic counseling training programs on the practicality of techniques already posited in the literature from other allied health professions. Semi-structured focus group interviews with 25 participants were conducted at the 2019 National Society of Genetic Counselors conference. Participants included program directors and supervisors from clinical, industry, and laboratory backgrounds. The focus group responses were analyzed using directed content analysis and a split coding technique, after which several themes emerged within the larger domains of rotation structures, systems infrastructure, skill-building methods, and other novel techniques to increase fieldwork capacity. Emerging themes included the importance of finding quality student placements rather than maximizing the quantity of participatory cases; a need for transparency about the transferability of skills learned from novel experiences; scaffolding student entrustment to expand supervisor capacity; and recognizing nuances in implementation for individual programs. Overall, the results emphasize the importance of openness in communication to manage expectations for students and supervisors, who may be more hesitant to try novel rotation placements and skill-building techniques. Genetic counseling programs may use these results to address the bottleneck of fieldwork capacity, increasing student enrollment.

Assessing barriers to the career ladder and professional development for ethnic minority genetic counselors in the United States.

Ethnic diversity is not reflected within healthcare professions, including genetic counseling, where lack of growth and membership among minority colleagues extends to upper-level and executive roles. While diversity and inclusion-based topics have been emphasized, studies on potential barriers to career advancement in the field of genetic counseling have not received the same attention. Our study examined the current state of mentorship and sponsorship programs, the presence of diversity and inclusion initiatives, and opportunities for career advancement through the lens of a minority genetic counselor. Practicing genetic counselors in the United States identifying as part of any racial group, other than non-Hispanic White alone, were recruited through the Minority Genetics Professionals Network for survey participation. A 31-item survey was fully completed by 19 practicing genetic counselors from a variety of ethnic backgrounds. Data were analyzed using descriptive statistics and thematic analysis, allowing for individual stories and accounts to be amplified. Results showed 16 of 19 participants had never been promoted in their current employment setting. Additionally, 7 out of 19 respondents disagreed or strongly disagreed that their company had a commitment to an ethnically diverse workforce within upper-level positions. Prominent themes identified from open-ended responses included lack of social connection with supervisors and the cross-race effect, a term referencing a tendency for individuals to better recognize members of their own race or ethnicity than others. Additional themes revealed feelings of isolation, need for support from White colleagues, as well as desired emphasis on sponsorship tailored toward professional growth. These findings demonstrate a need for proactive involvement in reaching ethnic and racial minority genetic counselors through companywide policy efforts, support and advocacy from White colleagues, and modification of cultural perception frameworks. Further focus and emphasis on these distinct but critical topics may be important in promoting increased diversity in upper-level positions in the field of genetic counseling.

Conscience clauses in genetic counseling: Awareness and attitudes.

Conscience clauses are laws that allow healthcare providers to refuse to participate in legal medical services based on moral or ethical objections. Genetic counselors encounter a variety of ethical and moral issues, including counseling about abortions. Currently, three states (Oklahoma, Nebraska, and Virginia) have genetic counseling conscience clause laws that allow genetic counselors to refuse to counsel about abortions. Conscience clause laws applying to physicians and pharmacists have been studied; however, they have not been studied in genetic counseling to date. We conducted an exploratory study assessing conscience clause awareness, attitudes, perceived obligations if utilizing a conscience clause, and alignment with the National Society of Genetic Counseling (NSGC) Code of Ethics. Genetic counselors (n = 274) currently practicing in the United States completed an online survey recruited through the NSGC listserv. The majority of participants were not aware that conscience clauses exist for genetic counseling (90%). There was uncertainty about whether genetic counselors had the right to utilize a conscience clause in practice (24% said yes, 31% said no, and 45% were unsure/needed more information). The majority reported an obligation to refer a patient if implementing a conscience clause (90%), although there were discrepancies among what constitutes an appropriate referral. When asked about the interaction between conscience clauses and the NSGC Code of Ethics, 45% believe they are separate and one does not supersede the other, 31% felt the Code of Ethics supersedes, 8% felt conscience clauses supersede, and 16% were unsure. Our study shows overall uncertainty with how conscience clause laws may be applied in clinical practice. Further clarity and education, especially in states where these laws exist, is critical to navigate the interaction between conscience clause laws and genetic counseling practice.

A narrative literature review: Growing the workforce through increased fieldwork capacity in genetic counseling training programs.

In response to mounting concerns regarding a perceived shortage of genetic counselors, the Genetic Counselor Workforce Working Group (WFWG) was established in 2013 to identify barriers to growth of the genetic counseling workforce. After completing a workforce analysis and confirming a shortage, the WFWG convened a strategic planning session in 2017 to identify goals and strategies that would increase the number of certified counselors to meet the current and future workforce demands and ensure access to genetic counselor services. Subcommittees were formed and charged with achieving assigned goals; one such subcommittee included a curriculum working group to build a dynamic and effective educational infrastructure to increase the number of genetic counselors graduated from accredited training program. This paper reports of progress of the WFWG Curriculum Subcommittee toward achieving this goal through a narrative literature review that identifies innovative education methods that help to increase capacity of fieldwork training, both in genetic counseling training programs and in other health professions. Of the five thematic areas identified in this study, four are analyzed for insight into building clinical capacity: systems/infrastructure, rotation structure/models, skill building, and novel techniques. While additional studies are needed to establish best practices in these thematic areas, there are several take-aways that training programs can begin to utilize as they look to expand training opportunities. While growth of the genetic counseling workforce will continue to be a long-term issue, programs should begin to think creatively and innovatively about how to reach beyond traditional fieldwork training formats to build capacity. The strategies explored in this paper offer feasible and untapped solutions that can help support efforts to establish a sustainable genetic counseling workforce.

Genetic testing costs and compliance with clinical best practices.

We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution. A cost analysis was performed comparing the costs of ordered tests to the cost of the recommended testing. This was an approved quality improvement project at a tertiary teaching hospital in California. We identified charts associated with the genetic testing billing codes for common genetic tests through our contracted laboratory (cystic fibrosis genotyping, Breast cancer susceptibility gene (BRCA 1&2), Methylenetetrahydrofolate reductase (MTHFR), factor V Leiden (FVL), prothrombin gene pathogenic variant, alpha-thalassemia, hemochromatosis, and cell-free fetal DNA). Charts were reviewed retrospectively by a licensed, certified genetic counselor to assess the compliance with published clinical practice guidelines identified on GeneReviews and the American College of Obstetricians and Gynecologists (ACOG). Tests were classified as: appropriate, misordered/not indicated, misordered/false reassurance, and misordered/inadequate. We performed a cost analysis for the recommended test changes. We reviewed 114 charts over a three-month period. Forty-four (38.6%) of the tests were misordered based on published clinical practice guidelines: 24 (21%) were misordered/not indicated, 8 (7%) were misordered/false reassurance, and 12 (10.5%) were misordered/inadequate. Costs of ordered testing ($75,177) were compared to recommended testing after review ($54,265), with a total cost savings of $20,912. In clinical practice, over one-third of genetic tests reviewed were misordered. As these tests are a small fraction of all genetic tests at our institution, future studies should broaden the scope of testing evaluated to understand the magnitude of this problem and potential cost savings. Genetic counselor review and involvement in genetic test ordering can decrease inappropriate healthcare expenditures and improve patient care.