Background Type 1 Gaucher Disease (GD), an autosomal recessive lysosomal storage disease, is most prevalent in the Ashkenazi Jewish (AJ) population. Experts have suggested that up to two-thirds of AJ homozygotes for the common mutation (N370S) are asymptomatic throughout life and never come to medical attention. However, there are no systematic studies of N370S homozygotes to support this presumption. Methods Prenatal carrier screening of 8069 AJ adults for six common GD mutations was performed. GD manifestations in 37 previously unrecognized homozygotes were assessed by clinical, laboratory and imaging studies. Results Among the 8069 AJ screenees, 524 GD carriers (1:15.4) and nine previously unrecognized GD homozygotes (1:897) were identified, consistent with that expected (1:949, p=1.0). Six of these homozygotes, and 31 AJ GD homozygotes identified by other prenatal carrier screening programs in the New York metropolitan area were evaluated (aged 17-40 years). Of these, 84% were N370S homozygotes, others being heteroallelic for N370S and V394L, L444P or R496H. Notably, 65% reported no GD medical complaints. However, 49% had anemia and/or thrombocytopenia. Among the 29 who had imaging studies, 97% had mild to moderate splenomegaly and 55% had hepatomegaly; skeletal imaging revealed marrow infiltration (100%), Erlenmeyer flask deformities (43%), lucencies (22%) and bone infarcts (14%). DEXA studies of 25 homozygotes found 60% osteopenic or osteoporotic. Conclusions Contrary to previous discussions, almost all asymptomatic GD homozygotes serendipitously diagnosed by prenatal carrier screening had disease manifestations and should be followed for disease progression and institution of appropriate medical management.

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While many patients with disabilities or chronic illnesses are served by genetic counselors, little effort has been made to promote the inclusion of individuals with disabilities and chronic illnesses as professionals in the genetic counseling field. Genetic counselors with disabilities and chronic illnesses have reported insufficient support from their colleagues throughout all stages of their professional journeys, but there is a lack of research exploring these challenges. To gain an understanding of the experiences of this community during graduate training, we conducted semi‐structured interviews with 13 recent graduates of genetic counseling programs who identify as having a disability or chronic illness. Questions explored various aspects of the graduate school experience including challenges, strengths, relationships, disclosure, and accommodations. Qualitative thematic analysis of interview transcripts resulted in six themes: (1) decisions around disclosure are complex, (2) interactions with others contribute to feeling misunderstood, (3) the high‐performance culture in graduate programs makes it challenging to meet personal needs, (4) interpersonal relationships provide support, (5) the accommodation process is often disappointing, and (6) lived experiences are valuable to patients. This study reveals opportunities to better support genetic counseling students with disabilities and chronic illnesses through strengthening inclusion efforts, shifting away from ableist ideologies, and promoting more flexible training options.