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Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population

  • Julia E. McGuinness
    Correspondence
    Corresponding author.
    Affiliations
    Department of Medicine, Division of Hematology and Oncology, College of Physicians and Surgeons, Columbia University, 177 Fort Washington Avenue, Suite 6GN-435, New York, NY 10032, United States
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  • Meghna S. Trivedi
    Affiliations
    Department of Medicine, Division of Hematology and Oncology, College of Physicians and Surgeons, Columbia University, 177 Fort Washington Avenue, Suite 6GN-435, New York, NY 10032, United States
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  • Thomas Silverman
    Affiliations
    Department of Biomedical Informatics, College of Physicians and Surgeons, Columbia University, New York, NY 10032, United States
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  • Awilda Marte
    Affiliations
    Department of Medicine, Division of Hematology and Oncology, College of Physicians and Surgeons, Columbia University, 177 Fort Washington Avenue, Suite 6GN-435, New York, NY 10032, United States
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  • Jennie Mata
    Affiliations
    Department of Medicine, Division of Hematology and Oncology, College of Physicians and Surgeons, Columbia University, 177 Fort Washington Avenue, Suite 6GN-435, New York, NY 10032, United States
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  • Rita Kukafka
    Affiliations
    Department of Biomedical Informatics, College of Physicians and Surgeons, Columbia University, New York, NY 10032, United States
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  • Katherine D. Crew
    Affiliations
    Department of Medicine, Division of Hematology and Oncology, College of Physicians and Surgeons, Columbia University, 177 Fort Washington Avenue, Suite 6GN-435, New York, NY 10032, United States
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      Abstract

      Genetic counseling is under-utilized in women who meet family history criteria for BRCA1 and BRCA2 (BRCA1/2) testing, particularly among racial/ethnic minorities. We evaluated the uptake of BRCA1/2 genetic testing among women presenting for screening mammography in a predominantly Hispanic, low-income population of Washington Heights in New York City.
      We administered the Six-Point Scale (SPS) to women presenting for screening mammography at Columbia University Irving Medical Center (CUIMC) in the Washington Heights neighborhood of New York, NY. The SPS is a family history screener to determine eligibility for BRCA1/2 genetic testing based upon U.S. Preventive Services Task Force (USPSTF) guidelines that has been validated in low-income, multiethnic populations.
      Among women who underwent screening mammography at CUIMC between November 2014 and June 2016, 3,055 completed the SPS family history screener. Participants were predominantly Hispanic (76.7%), and 12% met family history criteria for BRCA1/2 testing, of whom <5% had previously undergone testing.
      In a multiethnic population, a significant proportion met family history criteria for BRCA1/2 testing, but uptake of genetic testing was low. Such underutilization of BRCA1/2 genetic testing among minorities further underscores the need to develop programs to engage high-risk women from underrepresented populations in genetic testing services.

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