Effects of genetic counselor disabilities on their professional experiences: A qualitative investigation of North American counselors' perceptions.

The National Society of Genetic Counselors' policies recognize the value of diversity in the profession. Yet North American genetic counselors are very homogeneous with respect to self-identified disabilities. One step towards diversifying the profession is understanding the experiences of genetic counselors who have disabilities. This is the first study to specifically explore academic and professional experiences of genetic counselors who self-identify as having a disability and their perceptions of whether/how their disability has played a role in their experiences. Participants were recruited through an online screening survey sent via NSGC and American Board of Genetic Counseling e-blasts. Twenty-four respondents who met eligibility criteria and provided contact information participated in individual semi-structured phone interviews. Questions explored challenges and supports, interactions with others, and effects of disability on career development. Inductive analysis yielded three themes: Disability Affects Career Choices, Disability Poses Unique Career Supports and Challenges, and Disability Affects Professional Functioning in Various Ways, and seven domains (major topics within themes). Experiences included, among others, counselors must balance their disability (e.g., management, treatment) with work and/or academic demands; they desire open communication around disability and accommodation needs; disability enhances their ability to empathize with patients; countertransference is prevalent; positive and negative interactions, respectively, contribute to feelings of inclusion and exclusion; a clinicalized healthcare culture views persons with disabilities as symptoms and not individuals, and subtle stigma and discrimination exist and is perceived as possibly worse for counselors whose disabilities are not visible. Understanding academic and professional experiences of genetic counselors with disabilities and efforts to improve access and supports may promote a more inclusive environment and help to diversify the profession.

Genotype-Phenotype Correlation of Distal 2q37 Deletions.

Brachydactyly mental retardation syndrome (BDMR) typically results from large deletions (>2-9 Mb) in distal 2q37. Haploinsufficiency of HDAC4 with incomplete penetrance has been proposed as the primary genetic cause of BDMR. To date, pure 2q37 deletions distal to HDAC4 were reported only in a limited number of individuals who share a subset of the clinical manifestations seen in cases with 2q37 deletions encompassing HDAC4. Here, we present a 4-year-old African American male who carries the smallest established 2q37.3 deletion distal to HDAC4 (827.1 kb; 16 OMIM genes). His clinical features that overlap with BDMR phenotypes include expressive-receptive language delay, behavioral issues, mild facial dysmorphism such as frontal bossing, and bilateral 5th finger brachydactyly and clinodactyly. The deletion was inherited from his mother with a history of learning difficulties and similar facial dysmorphism. This case provides important genotype-phenotype correlation information and suggests a 2q37 region distal to HDAC4 encompassing the HDLBP gene may contribute to a subset of clinical features overlapping with those seen in individuals with BDMR.