Abstract
Clinicians and patients may use genetic testing results to guide clinical management decisions; as a result, it is crucial that all parties have a clear understanding of the implications of a particular variant. Though variant interpretation guidelines exist, interpretations of the same variant may differ between laboratories, complicating the meaning of a particular result. Genetic counselors are often the first professionals to deliver this complex information to patients and other providers; however, no standardized variant interpretation education currently exists across genetic counseling programs. We surveyed 204 genetic counselors who graduated between 2014-2016 and 19 genetic counseling program faculty. These respondents represent 37 of 41 ACGC-accredited genetic counseling programs. The majority (94.7%) of programs represented include variant interpretation education and 68% of graduates agreed or strongly agreed that they received appropriate variant interpretation training. Classroom instruction, clinical internships and case evaluations were ranked as the most effective educational strategies by recent graduates. Graduates (N = 179) reported feeling significantly more confident in four variant interpretation scenarios after a few years of professional experience than at graduation. Of graduates (N = 175), 66.1% agreed or strongly agreed that variant interpretation skills should be considered part of the ACGC competency that requires genetic counselors to be able to “critically assess genetic/genomic, medical and social science literature and information.” In summary, genetic counseling programs have adopted variant interpretation education into their curricula, although these practices have yet to be standardized. Significant differences in variant interpretation attitudes exist between genetic counselors of laboratory, cancer and prenatal specialties. These findings delineate attitudes regarding variant interpretation education within genetic counseling programs which could be used to develop variant interpretation educational modules.