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Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

ABSTRACT

Purpose

Efforts have been made to standardize laboratory variant interpretation, but clinicians are ultimately tasked with clinical correlation and application of genetic test results in patient care. This study aimed to explore processes clinicians utilize when reviewing and returning genetic test results, and how they impact patient care.

Methods

Medical geneticists, genetic counselors, and nongenetics clinicians from two Midwestern states completed surveys (n = 98) and in-depth interviews (n = 29) on practices of reviewing and returning genetic test results. Retrospective chart review (n = 130) examined discordant interpretations and the impact on care.

Results

Participants reported variable behaviors in both reviewing and returning results based on factors such as confidence, view of role, practice setting, and relationship with the lab. Providers did not report requesting changes to variant classifications from laboratories, but indicated relaying conflicting classifications to patients in some cases. Chart reviews revealed medically impactful differences in interpretation between laboratories and clinicians in 18 (13.8%) records.

Conclusion

Clinician practices for reviewing and integrating genetic test results into patient care vary within and between specialties and impact patient care. Strategies to better incorporate both laboratory and clinician expertise into interpretation of genetic results could result in improved care across providers and settings.

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Fig. 1: Participant survey responses on frequency of returning genetic testing results and resources used in revewing genetic testing results.

Data availability

De-identified data are available by individual request.

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Acknowledgements

We thank the participants in the survey and interviews for sharing their behaviors and experiences. This work was funded by a Chairman’s Award from Children’s Mercy Hospital and by Genomic Answers for Kids.

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Authors

Contributions

Conceptualization: C.B., E.A.H., L.W., K.G., E.F. Data curation: C.B., E.A.H., E.F. Formal analysis: C.B., E.A.H., E.F. Funding acquisition: T.P., E.F. Investigation: C.B., E.A.H., E.F. Methodology: C.B., E.A.H., L.W., I.T., C.S., K.G., E.F. Project administration: C.B., E.A.H., E.F. Supervision: T.P., K.G., E.F. Visualization: C.B., E.F. Writing—original draft: C.B., E.F. Writing—review and editing: C.B., E.A.H., I.T., C.S., K.G., E.F.

Corresponding author

Correspondence to Courtney Berrios.

Ethics declarations

ETHICS DECLARATION

All studies were approved by the Children’s Mercy Institutional Review Board (IRB) (#17080496 and #1701332). Informed consent was obtained from all survey and interview participants as required by the IRB, with a waiver of documentation of informed consent. Data for the chart review were collected with a waiver of consent and HIPAA authorization granted by the IRB. Data collected in the survey were de-identified. Data collected in the interviews and chart review were de-identified for analysis, but links to identifiers were maintained.

Competing interests

E.F. is on a Clinical Expert Panel for Whole Genome Sequencing for Illumina, Inc., etc. The other authors declare no competing interests.

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Berrios, C., Hurley, E.A., Willig, L. et al. Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care. Genet Med (2021). https://doi.org/10.1038/s41436-021-01267-x

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