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

ABSTRACT: PURPOSE: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. METHODS:An online survey was administered to National Society of Genetic Counselors members providing clinical counseling. RESULTS: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. CONCLUSION: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.

SUBMITTER: Wain KE

PROVIDER: S-EPMC7127982 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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

Wain Karen E KE Azzariti Danielle R DR Goldstein Jennifer L JL Johnson Amy Knight AK Krautscheid Patti P Lepore Brianna B O'Daniel Julianne M JM Ritter Deborah D Savatt Juliann M JM Riggs Erin Rooney ER Martin Christa Lese CL

Genetics in medicine : official journal of the American College of Medical Genetics 20191122 4

<h4>Purpose</h4>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.<h4>Methods</h4>An online survey was administered to National Society of Genet ...[more]

PMID: 31754268

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Project description:More reliable and cheaper sequencing technologies have revealed the vast mutational landscapes characteristic of many phenotypes. The analysis of such genetic variants has led to successful identification of altered proteins underlying many Mendelian disorders. Nevertheless the simple one-variant one-phenotype model valid for many monogenic diseases does not capture the complexity of polygenic traits and disorders. Although experimental and computational approaches have improved detection of functionally deleterious variants and important interactions between gene products, the development of comprehensive models relating genotype and phenotypes remains a challenge in the field of genomic medicine. In this context, a new view of the pathologic state as significant perturbation of the network of interactions between biomolecules is crucial for the identification of biochemical pathways associated with complex phenotypes. Seminal studies in systems biology combined the analysis of genetic variation with protein-protein interaction networks to demonstrate that even as biological systems evolve to be robust to genetic variation, their topologies create disease vulnerabilities. More recent analyses model the impact of genetic variants as changes to the "wiring" of the interactome to better capture heterogeneity in genotype-phenotype relationships. These studies lay the foundation for using networks to predict variant effects at scale using machine-learning or algorithmic approaches. A wealth of databases and resources for the annotation of genotype-phenotype relationships have been developed to support developments in this area. This overview describes how study of the molecular interactome has generated insights linking the organization of biological systems to disease mechanism, and how this information can enable precision medicine. This article is categorized under: Translational, Genomic, and Systems Medicine > Translational Medicine Biological Mechanisms > Cell Signaling Models of Systems Properties and Processes > Mechanistic Models Analytical and Computational Methods > Computational Methods.

Dataset Information

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

Publications

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

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