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Systematic mapping review of guidelines for BRCA1/2 genetic testing globally: investigating geographic and regional disparities in health equity for women and families at risk for hereditary ovarian cancer
  1. Brittany N Hughes1,
  2. Kirsten A Jorgensen2,
  3. Shelly Cummings3,
  4. Damini Morah3,
  5. Kate Krause4,
  6. Jose Alejandro Rauh-Hain5 and
  7. Thomas J Herzog1
  1. 1University of Cincinnati Cancer Center, Cincinnati, Ohio, USA
  2. 2Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center Division of Surgery, Houston, Texas, USA
  3. 3Myriad Genetics Inc, Salt Lake City, Utah, USA
  4. 4The University of Texas MD Anderson Cancer Center Research Medical Library, Houston, Texas, USA
  5. 5The University of Texas MD Anderson Cancer Center Department of Gynecologic Oncology and Reproductive Medicine, Houston, Texas, USA
  1. Correspondence to Brittany N Hughes, University of Cincinnati Cancer Center, University of Cincinnati, Cincinnati, Ohio OH 45267, USA; brittany.hughes04{at}


Objective Identification of persons at risk for hereditary syndromes through genetic testing prior to cancer diagnosis may proactively reduce the cancer burden morbidity and mortality. Using a framework of health equity, this study characterizes the global landscape of publication and reference to BRCA1/2 genetic testing guidelines (GTG).

Methods This study used a systematic literature search supplemented by an International Gynecologic Cancer Society (IGCS) informal survey and cross referenced with Myriad Genetics records, to identify published GTG, their country of origin, and countries referencing them.

Results Of 1011 identified publications, 166 met the inclusion criteria, from which 46 unique guidelines were identified, published by 18 countries and two regions (Europe and the UK). Authorship from the USA accounted for 63% of publications on GTG. Systematic mapping reviews revealed 34 countries with published and/or referenced guidelines, the IGCS survey revealed 22 additional countries, and coordination with Myriad Genetics revealed additional information for two countries and primary information for one country. Of the 57 countries evaluated, 33% published their own guidelines and reference guidelines from another country/region, 5% published their own guidelines without referencing another country/region, and 61% only referenced a guideline from another country/region. No data were available for 138 of 195 countries, disproportionately from Africa, the Middle East, Eastern Europe, and Southeast Asia.

Conclusions Global geographic disparities in the publication and referencing of GTG exist, with a large emphasis on North American and European guidelines in the published literature. These disparities highlight a need for uniform BRCA GTG to improve global health equity.

  • BRCA1 Protein
  • BRCA2 Protein
  • Ovarian Cancer
  • Miscellaneous
  • Gynecology

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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  • Contributors BNH: Author acting as guarantor, review and abstraction of data, and development and editing of the manuscript. KAJ: Review and abstraction of data, and development and editing of the manuscript. SC, DM, KK, JAR-H: Review of data, development, and manuscript editing. TJH: Generated the concept for the study, review of data, development, and manuscript editing.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors.

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  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.