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Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer.

作者信息

Pederson Holly J, Narod Steven A

机构信息

Medical Breast, Cleveland Clinic, Cleveland, OH, USA.

Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada.

出版信息

BJC Rep. 2024 Oct 1;2(1):73. doi: 10.1038/s44276-024-00099-x.


DOI:10.1038/s44276-024-00099-x
PMID:39516714
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11523979/
Abstract

It is thirty years since the BRCA1 and BRCA2 genes were discovered and genetic testing for BRCA1 and BRCA2 was introduced. Despite increasing awareness of the genetic basis of cancer and our evolving knowledge of effective means of prevention, screening, and treatment for hereditary breast and ovarian cancers, genetic testing is underutilized, and most mutation carriers remain unidentified. In this commentary, we explore possible reasons for why this might be so. Our focus is on factors that may influence or deter a patient from pursuing testing, rather than discussing the implications of receiving a positive test result. Issues of concern include an inadequate number of genetic counselors, restrictive (and conflicting) eligibility criteria for testing, the cost of the test, health insurance coverage, fear of future insurance discrimination, privacy issues, lack of familiarity with the testing process in primary care and gaps in both patient and provider knowledge about the impact and the value of testing. We discuss how these factors may lead to the underutilization of genetic testing in North America and throughout the world and discuss alternative models of genetic healthcare delivery. We have invited leaders in cancer genetic from around the world to tell us what they think are the barriers to testing in their host countries.

摘要

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本文引用的文献

[1]
Genetic Counseling, Testing, and Family Communication Into Survivorship After Diagnosis of Breast Cancer.

J Clin Oncol. 2024-9-10

[2]
Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing.

Ann Oncol. 2024-10

[3]
Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.

JCO Glob Oncol. 2024-4

[4]
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations.

JAMA Oncol. 2024-4-1

[5]
Effect of an Educational Intervention on Women's Health Care Provider Knowledge Gaps About Breast Cancer Risk Model Use and High-risk Screening Recommendations.

J Breast Imaging. 2023-2-6

[6]
The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer.

Eur J Hum Genet. 2024-5

[7]
A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study.

Gastroenterology. 2024-5

[8]
Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.

J Clin Oncol. 2024-2-10

[9]
Hereditary cancer testing in a diverse sample across three breast imaging centers.

Breast Cancer Res Treat. 2024-1

[10]
Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial.

JCO Oncol Pract. 2023-11

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