Exploring genetic counselors' practice of discussing clinical trials with patients.

Despite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board-certified, patient-facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (N = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one-third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one-third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (p < 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.

Genetic sex validation for sample tracking in next-generation sequencing clinical testing.

OBJECTIVE: Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both the precise SNP tracking and the utility of the panel for predicting the sex-by-genotype of the participants, to identify possible sample mix-ups. RESULTS: Precise SNP tracking showed no sample swap errors within the clinical testing laboratories. In contrast, when comparing predicted sex-by-genotype to the provided sex on the test requisition, we identified 110 inconsistencies from 25,015 clinical samples (0.44%), that had occurred during sample collection or accessioning. The genetic sex predictions were confirmed using additional SNP sites in the sequencing data or high-density genotyping arrays. It was determined that discrepancies resulted from clerical errors (49.09%), samples from transgender participants (3.64%) and stem cell or bone marrow transplant patients (7.27%) along with undetermined sample mix-ups (40%) for which sample swaps occurred prior to arrival at genome centers, however the exact cause of the events at the sampling sites resulting in the mix-ups were not able to be determined.