Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing

Abstract Background Consumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT. Methods A retrospective...

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Main Authors: Magan Trottier, Dina Green, Hannah Ovadia, Amanda Catchings, Julia Gruberg, Victoria Groner, Catherine Fanjoy, Sita Dandiker, Kathleen Blazer, Jada G. Hamilton, Kenneth Offit
Format: Article
Language:English
Published: Wiley 2024-08-01
Series:Molecular Genetics & Genomic Medicine
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Online Access:https://doi.org/10.1002/mgg3.2508
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author Magan Trottier
Dina Green
Hannah Ovadia
Amanda Catchings
Julia Gruberg
Victoria Groner
Catherine Fanjoy
Sita Dandiker
Kathleen Blazer
Jada G. Hamilton
Kenneth Offit
author_facet Magan Trottier
Dina Green
Hannah Ovadia
Amanda Catchings
Julia Gruberg
Victoria Groner
Catherine Fanjoy
Sita Dandiker
Kathleen Blazer
Jada G. Hamilton
Kenneth Offit
author_sort Magan Trottier
collection DOAJ
description Abstract Background Consumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT. Methods A retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies. Results Among respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes. Conclusion Providers counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.
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spelling doaj-art-c11147e7f55d4992b7ae423cd88b052d2025-08-20T02:19:37ZengWileyMolecular Genetics & Genomic Medicine2324-92692024-08-01128n/an/a10.1002/mgg3.2508Genetics healthcare providers' experiences counseling patients with results from consumer genomic testingMagan Trottier0Dina Green1Hannah Ovadia2Amanda Catchings3Julia Gruberg4Victoria Groner5Catherine Fanjoy6Sita Dandiker7Kathleen Blazer8Jada G. Hamilton9Kenneth Offit10Department of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Psychiatry & Behavioral Sciences Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADivision of Clinical Cancer Genomics City of Hope Comprehensive Cancer Center Duarte Los Angeles USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USADepartment of Medicine Memorial Sloan Kettering Cancer Center New York City New York USAAbstract Background Consumer genomic testing (CGT), including direct‐to‐consumer and consumer‐initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT. Methods A retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies. Results Among respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes. Conclusion Providers counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.https://doi.org/10.1002/mgg3.2508consumer‐initiated genetic testingdirect‐to‐consumer genetic testinggenetic counselinggenetics healthcare providers
spellingShingle Magan Trottier
Dina Green
Hannah Ovadia
Amanda Catchings
Julia Gruberg
Victoria Groner
Catherine Fanjoy
Sita Dandiker
Kathleen Blazer
Jada G. Hamilton
Kenneth Offit
Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
Molecular Genetics & Genomic Medicine
consumer‐initiated genetic testing
direct‐to‐consumer genetic testing
genetic counseling
genetics healthcare providers
title Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
title_full Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
title_fullStr Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
title_full_unstemmed Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
title_short Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing
title_sort genetics healthcare providers experiences counseling patients with results from consumer genomic testing
topic consumer‐initiated genetic testing
direct‐to‐consumer genetic testing
genetic counseling
genetics healthcare providers
url https://doi.org/10.1002/mgg3.2508
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