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Cited by 19BRCA gene mutations in cancerTelemedicine and Telehealth ImplementationPatient-Provider Communication in Healthcare

A systematic review and meta‐analysis of telephone vs in‐person genetic counseling in BRCA1/BRCA2 genetic testing

Bracke, Xavier, Roberts, Jonathan, McVeigh, Terri P.·2021·Journal of Genetic Counseling
DOI 10.1002/jgc4.1343
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Abstract

Pathogenic variants in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer. Individuals with identified pathogenic variants in the BRCA1 or BRCA2 gene can benefit from cancer risk-reducing strategies. In the recent years, there has been an increase in the demand of genetic services. In light of the ongoing COVID19 pandemic, alternatives to face-to-face consultations have had to be considered and adopted, including telemedicine. Informed consent is necessary for genetic testing. Studies have suggested that increased levels of cancer-specific distress may impair the patient's ability to retain information, therefore, providing informed consent. This systematic review and meta-analysis aimed to answer if telephone genetic counseling for BRCA1 and BRCA2 genetic testing is non-inferior to in-person genetic counseling for the outcomes of cancer-specific distress and genetic knowledge. Databases of Medline, Embase, PsycINFO, CINAHL, SciELO, Web of Science, CENTRAL, ProQuest Dissertation & Theses Database, Clinicaltrials.gov, EU clinical trials register were accessed to identify any published or unpublished relevant literature. Random-effects models were used for the meta-analysis. Four studies were included in the qualitative synthesis of the results. Three studies were included in the quantitative synthesis of the results. Telephone genetic counseling was non-inferior compared to in-person genetic counseling for the outcomes of cancer-specific distress and genetic knowledge. Sensitivity analysis corroborated the main results. Telephone genetic counseling for BRCA1/BRCA2 genetic testing may be an alternative model of delivering genetic services in front of the increased demand/or when required by social context. However, the paucity of the evidence prevents from drawing strong conclusions regarding the generalizability of these results. Further research is needed to strengthen the conclusions.

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  • One meta-analysis found that telehealth genetic counselling was not inferior to in-person counselling for cancer-specific distress and knowledge.

    “One meta-analysis compared genetic counselling delivered by telehealth versus in-person, determining that telehealth was not inferior to in-person counselling on the two evaluated outcomes of cancer-specific distress and knowledge.”

    From Digital health and telehealth in cancer care: A scoping review of reviews (2023) · cites this paper as [34]

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Authors
Bracke, X., Roberts, J., & McVeigh, T. P.
Affiliations
  • Institute of Continuing Education University of Cambridge Cambridge UK
  • University of Cambridge (GB)
  • Royal Marsden NHS Foundation Trust (GB)
ORCID
Venue
Journal of Genetic Counseling
Publisher
Wiley
Published
2020-11
Volume
30
Issue
2
Pages
563-573
ISSN
  • 1059-7700 (ISSN-L)
  • 1573-3599
DOI
10.1002/jgc4.1343
OpenAlex
W3097186816
Cited by
19
References
33
Citations by year
2026: 4 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 2 · 2021: 7
FWCI
0.43
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Journal of Genetic Counseling (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Telemedicine and Telehealth Implementation
  • Health Sciences › Health Professions › General Health Professions › Patient-Provider Communication in Healthcare
Keywords
BRCA1, BRCA2, genetic testing, cancer-specific distress, genetic knowledge, informed consent, telemedicine, COVID-19 pandemic, breast cancer risk, ovarian cancer risk, non-inferiority
MeSH terms
COVID-19, SARS-CoV-2, Breast Neoplasms, Female, Genetic Counseling, Genetic Testing, Humans, Mutation, Ovarian Neoplasms, Telephone, BRCA1 Protein, Genes, BRCA1, Genetic Predisposition to Disease, BRCA2 Protein

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