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Health Disparities in Germline Genetic Testing for Cancer Susceptibility

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Abstract

Purpose of Review

Despite advances in testing for heritable cancer susceptibility gene mutations, health disparities persist. We review racial/ethnic and socioeconomic factors that affect access to genetic counseling and testing, which may influence the validity of results among diverse populations and the clinical utility of genetic testing.

Recent Findings

Differential access to genetic testing among racial/ethnic minorities including Hispanics and blacks compared with whites drives disparities in the clinical validity of results: specifically, variants of unknown significance (VUS) are notably more prevalent in minorities. Deficiencies in results interpretation by patients and providers are common with VUS, which may engender disparities in clinical utility.

Summary

There is evidence of racial/ethnic disparities in genetic testing access and the clinical validity of results, which are threats to the clinical utility of testing for all populations. Concerted efforts are needed to decrease disparities in germline cancer genetic testing and results’ interpretation and management.

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Acknowledgments

We thank Hong-nei Wong, M.L.I.S., M.P.V.M., D.V.M. at the Stanford University Lane Medical Library for assistance in generating the search terms and search strings for review.

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Correspondence to Allison W. Kurian.

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Allison Kurian reports grants from Myriad Genetics outside the submitted work. Divya Parikh and James Dickerson declare no conflicts of interest relevant to this manuscript.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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Appendix. Search terms used in PubMed

Appendix. Search terms used in PubMed

Health disparities

(“health services accessibility”[mh] OR “health status disparities”[MH] OR “healthcare disparities”[mh] OR disparities[TW] OR disparity[TW] OR underserved[TW] OR underrepresent*[TW] OR ((racial[TW] OR race[TW] OR ethnic[TW] OR socioeconomic*[TW] OR “continental population groups”[MH] OR “ethnic groups”[MH] OR African[TW] OR Asian[TW] OR Hispanic[TW] OR “pacific islander”[TW] OR “population groups”[MH] OR “ethnic groups”[MH] OR arab[TW] OR jews[TW] OR roma[TW] OR amish[TW] OR inuits[TW]) AND (access*[TW] OR disparity[TW] OR disparities[TW] OR inequality[TW] OR inequalities[TW])))

Genetic testing

(((“germ-line mutation”[MH] OR “genetic variation”[MH] OR “VUS”[TIAB] OR “variance of unknown significance”[TIAB] OR “variance of uncertain significance”[TIAB] OR “germline mutation” OR genes[TW] OR genetic[TW] OR gene[TW] OR genomic[TW] OR genomics[TW] OR “DNA”[TIAB] OR “Genetic Predisposition to Disease”[MH] OR “Neoplastic Syndromes, Hereditary”[MH] OR “Genetic Predisposition to Disease”[MH]) AND (tests[TW] OR test[TW] OR testing[TW] OR testings[TW] OR screening[TW] OR screenings[TW] OR diagnos*[TW] OR “risk assessment”[MH])) OR “genetic testing”[MH])

Cancer related

(Neoplasms[MH] OR “Neoplastic Syndromes, Hereditary”[MH] OR cancer[TW] OR neoplasm[TW] OR neoplasia[TW] OR tumor[TW] OR tumors[TW] OR cancers[TW] OR malignancy[TW] OR malignancies[TW] OR neoplastic[TW] OR oncology[TIAB] OR oncological[TIAB])

Germline

(“germline” OR “germ line” OR “germ-line” OR germlines OR “germ-lines”)

General and access sections

(“health services accessibility”[mh] OR “health status disparities”[MH] OR “healthcare disparities”[mh] OR disparities[TW] OR disparity[TW] OR underserved[TW] OR underrepresent*[TW] OR ((racial[TW] OR race[TW] OR ethnic[TW] OR socioeconomic*[TW] OR “continental population groups”[MH] OR “ethnic groups”[MH] OR African[TW] OR Asian[TW] OR Hispanic[TW] OR “pacific islander”[TW]- OR “population groups”[MH] OR “ethnic groups”[MH] OR arab[TW] OR jews[TW] OR roma[TW] OR amish[TW] OR inuits[TW]) AND (access*[TW] OR disparity[TW] OR disparities[TW] OR inequality[TW] OR inequalities[TW]))) AND (((“germ-line mutation”[MH] OR “genetic variation”[MH] OR “VUS”[TIAB] OR “variance of unknown significance”[TIAB] OR “variance of uncertain significance”[TIAB] OR “germline mutation” OR genes[TW] OR genetic[TW] OR gene[TW] OR genomic[TW] OR genomics[TW] OR “DNA”[TIAB] OR “Genetic Predisposition to Disease”[MH] OR “Neoplastic Syndromes, Hereditary”[MH] OR “Genetic Predisposition to Disease”[MH]) AND (tests[TW] OR test[TW] OR testing[TW] OR testings[TW] OR screening[TW] OR screenings[TW] OR diagnos*[TW] OR “risk assessment”[MH])) OR “genetic testing”[MH]) AND (Neoplasms[MH] OR “Neoplastic Syndromes, Hereditary”[MH] OR cancer[TW] OR neoplasm[TW] OR neoplasia[TW] OR tumor[TW] OR tumors[TW] OR cancers[TW] OR malignancy[TW] OR malignancies[TW] OR neoplastic[TW] OR oncology[TIAB] OR oncological[TIAB]) AND (“germline” OR “germ line” OR “germ-line” OR germlines OR “germ-lines”)

Clinical validity

(racial[TW] OR races[TW] OR race[TW] OR ethnic[TW] OR socioeconomic*[TW] OR “continental population groups”[MH] OR “ethnic groups”[MH] OR African[TW] OR Asian[TW] OR Hispanic[TW] OR “pacific islander”[TW] OR “population groups”[MH] OR “ethnic groups”[MH] OR arab[TW] OR jews[TW] OR roma[TW] OR amish[TW] OR inuits[TW]) AND ((“genetic testing”[MH] OR ((gene*(TIAB) OR “Genetic Predisposition to Disease”[MH] OR “hereditary cancer”[TW] OR “Neoplastic Syndromes, Hereditary”[MH] OR “Genetic Predisposition to Disease”[MH]) AND (test*[TIAB] OR screening[TIAB] OR “risk assessment”[MH]) OR “germ-line mutation”[MH] OR “gene sequencing” OR “multi-gene sequencing” OR “multiple-gene sequencing” OR “genetic testing”[TW] OR “genetic tests”[TW] OR “genetic test”[TW] OR “genetic testings”[TW]) AND (“VUS”[TIAB] OR “variant of uncertain significance” OR “unclassified variant” OR “variant of unknown significance”)

Clinical utility

(racial[TW] OR races[TW] OR race[TW] OR ethnic[TW] OR socioeconomic*[TW] OR “continental population groups”[MH] OR “ethnic groups”[MH] OR African[TW] OR Asian[TW] OR Hispanic[TW] OR “pacific islander”[TW] OR “population groups”[MH] OR “ethnic groups”[MH] OR arab[TW] OR jews[TW] OR roma[TW] OR amish[TW] OR inuits[TW] OR “VUS” OR “variant of uncertain significance” OR “unclassified variant” OR “variant of unknown significance”) AND ((“genetic testing”[MH] OR ((gene*(TIAB) OR “Genetic Predisposition to Disease”[MH] OR “hereditary cancer”[TW] OR “Neoplastic Syndromes, Hereditary”[MH] OR “Genetic Predisposition to Disease”[MH] OR “cancer risk”[TIAB]) AND (test*[TIAB] OR screening[TIAB] OR “risk assessment”[MH])) OR “gene sequencing” OR “multi-gene sequencing” OR “multiple-gene sequencing” OR “genetic testing”[TW] OR “genetic tests”[TW] OR “genetic test”[TW] OR “genetic testings”[TW]) AND (counseling[tiab] OR (knowledge[tiab] AND attitudes[tiab]) OR interpretation[TIAB] OR communication[TIAB] OR “clinical significance”[TIAB] OR “clinical importance”[TIAB] OR “attitude to health”[MH] OR “genetic counseling”[MH]) AND (Neoplasms[MH] OR “Neoplastic Syndromes, Hereditary”[MH] OR cancer[TW] OR neoplasm[TW] OR neoplasia[TW] OR tumor[TW] OR tumors[TW] OR cancers[TW] OR malignancy[TW] OR malignancies[TW] OR neoplastic[TW] OR oncology[TIAB] OR oncological[TIAB].

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Parikh, D.A., Dickerson, J.C. & Kurian, A.W. Health Disparities in Germline Genetic Testing for Cancer Susceptibility. Curr Breast Cancer Rep (2020). https://doi.org/10.1007/s12609-020-00354-3

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Keywords

  • Germline
  • Cancer
  • Genetic
  • Disparity