Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties



Genomic testing is routinely utilized across clinical settings and can have significant variant interpretation challenges. The extent of genetic counselor (GC) engagement in variant interpretation in clinical practice is unknown. This study aimed to explore clinical GCs’ variant interpretation practice across specialties, understand outcomes of this practice, and identify resource and educational needs.


An online survey was administered to National Society of Genetic Counselors members providing clinical counseling.


Respondents (n = 239) represented all major clinical specialties. The majority (68%) reported reviewing evidence documented by the laboratory for most (>60%) variants reported; 45.5% report seeking additional evidence. Prenatal GCs were less likely to independently assess reported evidence. Most respondents (67%) report having reached a different conclusion about a variant’s classification than the testing laboratory, though infrequently. Time was the most commonly reported barrier (72%) to performing variant interpretation, though the majority (97%) indicated that this practice had an important impact on patient care. When presented with three hypothetical scenarios, evidence typically used for variant interpretation was generally applied correctly.


This study is the first to document variant interpretation practice broadly across clinical GC specialties. Our results suggest that variant interpretation should be considered a practice-based competency for GCs.

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The authors would like to thank H. Lester Kirchner for early statistical guidance. We would like to acknowledge and thank the National Society of Genetic Counselors Board of Directors for assistance in disseminating this survey. This work is supported by funding from the National Human Genome Research Institute (U41HG006834, U41HG009649, and U41HG009650). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Correspondence to Karen E. Wain MS.

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A.K.J. is an employee of Invitae. P.K. is an employee of ARUP Laboratories. The other authors declare no conflicts of interest.

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ANIMAL STUDIES: No nonhuman animal studies were carried out by the authors for this article.

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Wain, K.E., Azzariti, D.R., Goldstein, J.L. et al. Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. Genet Med (2019).

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  • variant interpretation
  • clinical genetic counselors
  • scope of practice
  • variant discrepancy
  • professional education