Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team‐based Variant Classification

Abstract

We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey was taken by 46 clinical cardiovascular genetic counselors recruited through the National Society of Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported on clinical genetic test reports and most (81.4%) assess the classification of such variants. Clinical cardiovascular genetic counselors typically (81.0%) classify variants in collaboration with cardiologist and/or geneticist colleagues, with the genetic counselor as the team member who is primarily responsible. Variant classification is a relatively recent (mean 3.2 years) addition to practice. Most genetic counselors learned classification skills on the job from clinical and laboratory colleagues. Recent graduates were more likely to have learned this in graduate school (p < 0.001). Genetic counselors are motivated to take responsibility for the classification of variants because of prior experiences with variant reclassification, inconsistencies between laboratories, and incomplete laboratory reports. They are also driven by a sense of professional duty and their proximity to the clinical context. This practice represents a broadening of the skill set of clinical cardiovascular genetic counselors and a unique expertise that they contribute to the interdisciplinary teams in which they work.

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

“…The majority of cardiovascular genetics groups assess variant classifications after receiving a genetic test report, motivated by a sense of responsibility for the result as well as previous experiences with reclassifications and disagreements between laboratories. 13 These motivations are in line with studies that suggest discordance in genetic-test interpretation is more common in cardiovascular genetics. [7][8][9] They also conform with our finding that clinicians approach variant classification with caution; when they disagree with the testing laboratory they tend to downgrade a LP/P classification to a VUS.…”

“…The majority (81%) of clinical cardiovascular genetic counselors report that their clinical teams reevaluate variant classifications received from genetic testing laboratories. 13 While previous studies have compared classifications by different laboratories, differences in classifications made by laboratories and clinicians have not been examined. We aimed to delineate the frequency and nature of differences in variant classifications between cardiovascular genetics clinicians and genetic-testing laboratories.…”

The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

“…For instance, one recent analysis demonstrated sequencing data alone provided a diagnosis in 36% of patients whereas assessment by medical geneticist increased the diagnostic yield to 43% (Baldridge et al, ). Similarly, genetic counselors working in a cardiovascular specialty took the lead role in collaborating with cardiologists and/or genetics colleagues to clarify variant interpretation (Reuter, Grove, Orland, Spoonamore, & Caleshu, ).…”

Clinical and genetic evaluation after sudden cardiac arrest

“…Genetic counseling is recommended for all patients and relatives with an inherited cardiovascular condition and genetic counselors are an integral part of the multidisciplinary team caring for these families 2,38 . A genetic counselor may be involved in patient care in the following capacities: generating and assessing a detailed family history; providing educational counseling about inheritance, risk to relatives, and screening recommendations; providing pretesting counseling including discussion of the benefits, limitations, and implications of genetic testing; coordinating testing and selecting the appropriate genetic test; interpreting and communicating test results; providing emotional support; and supporting the patients’ communication of genetic risk to their family members, which may include the provision of written materials to aid in family communication 38,39 . Genetic counseling and psychological support for families after a SCD is particularly important, as prior research has demonstrated that nearly 50% of family members experience prolonged grief or posttraumatic stress syndrome after the sudden death of a relative, and a significant portion of relatives report poor adaptation to genetic information after postmortem genetic testing 40,41 …”