Skip to main content
Dryad

Data from: Screening familial risk for hereditary breast and ovarian cancer

Data files

Oct 17, 2024 version files 48.29 MB

Abstract

Background: Most patients with pathogenic or likely pathogenic (P/LP) variants for breast cancer have not undergone genetic testing. Our primary objective was to identify patients meeting family history criteria for genetic testing in the electronic health record (EHR).

Methods: This study included a cross-sectional analysis with an observation date of February 1, 2024. Participants included patients aged 18 to 79 years enrolled in Renown Health, a large health system in Northern Nevada. Genotype was known for 38,003 patients enrolled in Healthy Nevada Project (HNP), a population genomics study. The primary exposure in this study was an EHR indicating that a patient is positive for criteria according to the Seven-Question Family History Questionnaire (hereafter, FHS7 positive) assessing familial risk for hereditary breast and ovarian cancer (HBOC). The primary outcomes were the presence of P/LP variants in the ATMBRCA1BRCA2CHEK2, or PALB2 genes.

Results:  Among 835,727 patients, 29,913 (3.6%) were FHS7 positive. Among those who were FHS7 positive, 24,535 (82.0%) had no evidence of prior genetic testing for HBOC in their EHR. Being FHS7 positive was associated with increased prevalence of P/LP variants in BRCA1/BRCA2 (odds ratio [OR], 3.34; 95% CI, 2.48-4.47), CHEK2 (OR, 1.62; 95% CI, 1.05-2.43), and PALB2 (OR, 2.84; 95% CI, 1.23-6.16) among HNP female individuals, and in BRCA1/BRCA2 (OR, 3.35; 95% CI, 1.93-5.56) among HNP male individuals. Among 1,527 HNP survey respondents, 352 of 383 EHR-FHS7 positive patients (91.9%) were survey-FHS7 positive, but only 352 of 883 survey-FHS7 positive patients (39.9%) were EHR-FHS7 positive. 

Conclusions and Relevance: In this cross-sectional study, EHR-derived FHS7 identified thousands of patients with familial risk for breast cancer, indicating a substantial gap in genetic testing. 

Data description:  Data used to create Tables 1, 3, and 4 of the manuscript are provided as comma-separated-values files. Data used to create Table 2 and to train the cause-specific hazard models are are subject to HIPAA and other privacy and compliance restrictions. Requests for these and other data may be addressed to Joe Grzymski (at jgrzymski@med.unr.edu) or Craig Kugler (at ckugler@med.unr.edu). These data (and other sensitive data) are available to qualified researchers upon reasonable request and with permission from the Center for Genomic Medicine. The HNP encourages collaboration with scientific researchers on an individual basis. Examples of restrictions that will be considered in requests to data access include but are not limited to: 

1. Whether the request comes from an academic institution in good standing that will collaborate with our team to
protect the privacy of the participants and the security of the data requested.

2. Type and amount of data requested.

3. Feasibility of the research suggested.

4. Amount of resource allocation to support the collaboration