Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients

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Abstract

While genomic medicine is becoming an important part of patient care with an ever‐increasing diagnostic yield, communicating variants of uncertain clinical significance (VUSs) remains a major challenge. We draw on qualitative analysis of semi‐structured interviews conducted in 2020 with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome‐wide sequencing to patients. Respondents described four main strategies of communicating VUSs to patients: preparing the patient pre‐test for uncertainty; adapting the level of detail to the patient's needs; upgrading versus downgrading the VUS; and following up on the possible reclassification of VUSs. These strategies were expressed differently by physicians and genetic counselors, varying according to their specialty and perception of the patient's situation. We discuss the strategic management and communication of uncertain genomic test results with patients in the context of meeting patients' expectations and working toward genetic causality through genomic narration and designation.

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Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale … (2015)

The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants. 1 In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next generation sequencing. By adopting and leveraging next generation sequencing, clinical laboratories are now performing an ever increasing catalogue of genetic testing spanning genotyping, single genes, gene panels, exomes, genomes, transcriptomes and epigenetic assays for genetic disorders. By virtue of increased complexity, this paradigm shift in genetic testing has been accompanied by new challenges in sequence interpretation. In this context, the ACMG convened a workgroup in 2013 comprised of representatives from the ACMG, the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP) to revisit and revise the standards and guidelines for the interpretation of sequence variants. The group consisted of clinical laboratory directors and clinicians. This report represents expert opinion of the workgroup with input from ACMG, AMP and CAP stakeholders. These recommendations primarily apply to the breadth of genetic tests used in clinical laboratories including genotyping, single genes, panels, exomes and genomes. This report recommends the use of specific standard terminology: ‘pathogenic’, ‘likely pathogenic’, ‘uncertain significance’, ‘likely benign’, and ‘benign’ to describe variants identified in Mendelian disorders. Moreover, this recommendation describes a process for classification of variants into these five categories based on criteria using typical types of variant evidence (e.g. population data, computational data, functional data, segregation data, etc.). Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends that clinical molecular genetic testing should be performed in a CLIA-approved laboratory with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or equivalent.

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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Marilyn M Li, Michael Datto, Eric Duncavage … (2017)

Widespread clinical laboratory implementation of next-generation sequencing-based cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidisciplinary working group tasked to assess the current status of next-generation sequencing-based cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants was convened by the Association for Molecular Pathology with liaison representation from the American College of Medical Genetics and Genomics, American Society of Clinical Oncology, and College of American Pathologists. On the basis of the results of professional surveys, literature review, and the Working Group's subject matter expert consensus, a four-tiered system to categorize somatic sequence variations based on their clinical significances is proposed: tier I, variants with strong clinical significance; tier II, variants with potential clinical significance; tier III, variants of unknown clinical significance; and tier IV, variants deemed benign or likely benign. Cancer genomics is a rapidly evolving field; therefore, the clinical significance of any variant in therapy, diagnosis, or prognosis should be reevaluated on an ongoing basis. Reporting of genomic variants should follow standard nomenclature, with testing method and limitations clearly described. Clinical recommendations should be concise and correlate with histological and clinical findings.

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Communication and Uncertainty Management

Dale Brashers (2001)

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Author and article information

Contributors

Aviad Raz:

ORCID: https://orcid.org/0000-0001-6268-0409

aviadraz@bgu.ac.il

Journal

Journal ID (nlm-ta): J Genet Couns

Journal ID (iso-abbrev): J Genet Couns

Journal ID (doi): 10.1002/(ISSN)1573-3599

Journal ID (publisher-id): JGC4

Title: Journal of Genetic Counseling

Publisher: John Wiley and Sons Inc. (Hoboken )

ISSN (Print): 1059-7700

ISSN (Electronic): 1573-3599

Publication date (Electronic): 04 February 2022

Publication date (Print): August 2022

Volume: 31

Issue: 4 ( doiID: 10.1111/jgc4.v31.4 )

Pages: 912-921

Affiliations

[ ¹ ] Department of Sociology and Anthropology Ben‐Gurion University of the Negev Be'er Sheva Israel

[ ² ] Department of Sociology UCLA Los Angeles California USA

[ ³ ] Department of Genetics Hadassah Medical Organization and Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel

Author notes

[*] [* ] Correspondence

Aviad Raz, Department of Sociology and Anthropology, Ben‐Gurion University of the Negev, Be'er Sheva, Israel.

Email: aviadraz@ 123456bgu.ac.il

Author information

Aviad Raz https://orcid.org/0000-0001-6268-0409

Article

Publisher ID: JGC41560

DOI: 10.1002/jgc4.1560

PMC ID: 9541910

PubMed ID: 35122362

SO-VID: 149565e6-817f-4081-ad63-ee7311d8a350

License:

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

History

Date revision received : 17 January 2022

Date received : 09 October 2021

Date accepted : 24 January 2022

Page count

Figures: 0, Tables: 2, Pages: 10, Words: 7832

Funding

Funded by: Israel Science Foundation , doi 10.13039/501100003977;

Award ID: 272/19

Funded by: Binational US‐Israel Science Foundation

Award ID: 2018027

Custom metadata

source-schema-version-number 2.0

cover-date August 2022

details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.2.0 mode:remove_FC converted:07.10.2022

ScienceOpen disciplines: Genetics

Keywords: communication,genomic designation,uncertainty,variant classification,variant of uncertain significance

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ScienceOpen disciplines: Genetics

Keywords: communication, genomic designation, uncertainty, variant classification, variant of uncertain significance

Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients

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Genomic Prediction

Most cited references 44

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Communication and Uncertainty Management

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