Call for action: expanding global access to hereditary cancer genetic testing

Since the discovery of hereditary cancer genes in the 1990s, guidelines for germline testing have evolved from testing patients with specific cancer subtypes, a family history of cancer, Ashkenazi Jewish ancestry, or a young age at diagnosis to including patients who might benefit from targeted ther...

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Published inThe lancet oncology Vol. 23; no. 9; pp. 1124 - 1126
Main Authors Bychkovsky, Brittany, Rana, Huma Q, Ademuyiwa, Foluso, Plichta, Jennifer, Anderson, Karen, Nogueira-Rodrigues, Angélica, Santa-Maria, Cesar A, Coffman, Lan G, Marquez, Carol, Das, Arunangshu, Taghian, Alphonse, Koeller, Diane R, Sandoval, Renata L, Park, Ben Ho, Dizon, Don S
Format Journal Article
LanguageEnglish
Published London Elsevier Ltd 01.09.2022
Elsevier Limited
Subjects
Abl protein
BCR protein
BRCA1 protein
BRCA2 protein
Breast cancer
Cancer therapies
Cost control
Flow cytometry
Fusion protein
Genealogy
Genetic screening
Genetics
High income
Laboratories
Lung cancer
Lymphedema
Medical screening
Oncology
Ovarian cancer
Patients
Public health
Royalties
United States > US
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Summary:Since the discovery of hereditary cancer genes in the 1990s, guidelines for germline testing have evolved from testing patients with specific cancer subtypes, a family history of cancer, Ashkenazi Jewish ancestry, or a young age at diagnosis to including patients who might benefit from targeted therapy. [...]contemporary evidence indicates that patients with Caribbean (specifically Bahamian), Latinx, Middle Eastern, and Indian ancestry have rates of pathogenic variants in BRCA1 and BRCA2 (appendix pp 2–4) similar to those with Ashkenazi Jewish ancestry. [...]access to hereditary CGT must be expanded since identifying pathogenic variants has a direct influence on all aspects of the cancer trajectory, from prevention to treatment. BRCA1 and BRCA2 testing is not uniformly recommended in oncology practice guidelines (when available) from LMICs,8 nor is it yet listed as an essential diagnostic test by WHO.9 The growing panel of cancer diagnostics, including BCR-ABL testing, flow cytometry for haematological malignancies, and EGFR testing for lung cancer, showcase the importance of diagnostics in cancer care for global health strategies.
Bibliography:ObjectType-Article-1
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ISSN:1470-2045
1474-5488
DOI:10.1016/S1470-2045(22)00378-3