Systematic mapping review of guidelines forBRCA1/2genetic testing globally: investigating geographic and regional disparities in health equity for women and families at risk for hereditary ovarian cancer

Abstract

ObjectiveIdentification 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 toBRCA1/2genetic testing guidelines (GTG).MethodsThis 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.ResultsOf 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.ConclusionsGlobal 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 uniformBRCAGTG to improve global health equity.

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study

“…To evaluate the DA we adapted an assessment questionnaire based on previously published reports assessing pre‐counselling genetic information 6,11 . Each question was discussed and reviewed by senior clinicians in gynaecological oncology and clinical genetics, and by statisticians.…”

“…To evaluate the DA we adapted an assessment questionnaire based on previously published reports assessing precounselling genetic information. 6,11 Each question was discussed and reviewed by senior clinicians in gynaecological oncology and clinical genetics, and by statisticians. A pilot DA assessment questionnaire was developed based on an earlier customsied DA assessment questionnaire used by us for a genetic-testing study.…”

“…[6][7][8][9] A wide range of clinical benefits, including poly-ADP ribose polymerase inhibitor treatment for patients and cascade testing in family members with opportunities for screening and prevention, underpins this rationale. 5,6,10,11 Existing resource/capacity constraints in genetics services have enabled newer scalable models like mainstreaming genetic testing by cancer clinicians at OC diagnosis to become part of routine clinical practice. 5 Several factors may affect the uptake of genetic testing, including socioeconomic background, access to and infrastructure of the testing pathway, and quality of pre-test information and counselling.…”

“…BRCA testing is also recommended by other international guidelines 6–9 . A wide range of clinical benefits, including poly‐ADP ribose polymerase inhibitor treatment for patients and cascade testing in family members with opportunities for screening and prevention, underpins this rationale 5,6,10,11 . Existing resource/capacity constraints in genetics services have enabled newer scalable models like mainstreaming genetic testing by cancer clinicians at OC diagnosis to become part of routine clinical practice 5 …”