Further defining the roles and impact of genetic counselors in the biotechnology and pharmaceutical industry.

As personalized medicine has gained traction, drug development models in the biotechnology and pharmaceutical industry (BPI) have increasingly sought to address medical conditions with a genetic component, creating an opportunity for genetic counselors (GCs) to fill new roles and utilize their unique training to contribute to drug development. Despite the potential for GCs in BPI, literature around the role of GCs in this industry has been limited. Our mixed methods study aimed to assess how the roles of GCs in BPI have evolved since 2016, investigate the value of and opportunity for GCs in this industry, and further characterize their motivation and job satisfaction. Participants were recruited via social media advertising, snowball sampling, and email listservs from the National Society of Genetic Counseling (NSGC), the Canadian Association of Genetic Counselors (CAGC), and the American Board of Genetic Counseling (ABGC). Survey (n = 20) and interview (n = 6) data indicates many aspects of GC roles in BPI are consistent with the 2016 study. However, there is evidence of roles becoming more varied and with increasing recognition of the value of GCs, opportunities for involvement in BPI are growing. Furthermore, combined study data found that GCs are motivated by the flexibility of BPI roles as well as the opportunity to contribute to rare disease treatment development and that they are overall satisfied with most aspects of their jobs. Interview data also found that genetic counseling training has the potential to improve clinical trial design and outcomes by making drug development more patient-centric. Finally, combined study data found that while GCs continue to utilize Accreditation Council of Genetic Counseling (ACGC) practice-based competencies (PBCs), business-related training may benefit GCs seeking to enter BPI. Together, these findings are critical for informing genetic counseling training programs, employers within BPI, and GCs interested in entering these positions.

Genetic counselors' comfort and knowledge of cancer risk assessment for transgender patients.

Transgender individuals are often their own health advocates, especially if seeking hormone therapies and gender-affirmation surgeries. While literature exists in the genetic counseling field that explores the relationship between genetic counselors and lesbian, gay, and bisexual patients, there is less research that directly addresses transgender patients. This study assessed cancer genetic counselors' education, knowledge, and comfort with transgender health issues, such as hormone therapies and gender affirmation surgeries. A survey evaluated comfort with relevant vocabulary terms and performance on written case vignettes to approximate how cancer genetic counselors would facilitate conversations with transgender patients about cancer risks. Conclusions drawn in this study are representative of this subpopulation, which is skewed toward a younger population. Mean similarity between responses and predetermined correct answers on the case vignettes was 78.5%. A majority of participants endorsed wanting more education on implications of transgender identity on cancer risk assessment, a need underscored by some participants reporting their discomfort asking about gender pronouns. There was an overall lack of consensus on breast cancer screening based on estrogen therapy, pedigree symbol use, and testing of a minor prior to hormone therapy. This study adds to the growing literature that highlights the educational needs specific to genetic counseling to promote individualized care for transgender patients.

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases.

BACKGROUND: Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization. Biopharmaceutical companies face complex challenges in developing treatments for rare diseases. Patient advocacy organizations may play a major role by positively influencing research and development, clinical trials, and regulations. Thus, collaboration among patient advocacy organizations and industry is essential to bring new therapeutics to patients. METHODS: We identified an unmet need for guidelines on day-to-day decision-making by rare disease patient advocacy organizations when working with biopharmaceutical partners. We convened an Independent Expert Panel experienced in collaborations between patient advocacy organizations and biopharmaceutical companies (April 2017) to develop consensus guidelines for these relationships. The guidelines were based on an original version by the International Fibrodysplasia Ossificans Progressiva Association (IFOPA). The Expert Panel reviewed and broadened these to be applicable to all patient advocacy organizations. Comments on the draft Guidelines were provided first by Panel participants and subsequently by six independent experts from patient advocacy organizations and industry. RESULTS: The Panel comprised four experts from the rare disease community who lead patient advocacy organizations; three leaders who perform advocacy functions within biopharmaceutical companies; and two facilitators, both having leadership experience in rare diseases and industry. The finalized Guidelines consist of four main sections: Identification and Engagement With Companies, Patient Engagement and Patient Privacy, Financial Contributions, and Clinical Trial Communication and Support. The Guidelines address the daily considerations, choices, and consequences of patient advocacy organizations as they engage with biopharmaceutical companies, and offer recommendations for volunteer/paid leaders of the organizations on how to interact in a thoughtful, responsible, ethical way that engenders trust. CONCLUSIONS: These Guidelines recommend best practices and standards for interactions between patient advocacy organizations and industry that will ultimately have a positive effect on the development of novel treatments. Patient advocacy organizations will be provided free access to these Guidelines to help bring clarification to day-to-day decision-making around their interactions, and for use as a living document with the potential for regular revisions and updates.

Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?

Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI's growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI's genomic communication needs.