E95: Genomic Data Contribution from Breast Cancer Survivors in the All Of Us Research Program

ePoster Abstract Author(s)

Anthony Baez, MD

Breast Surgery Fellow
NYU Grossman School of Medicine
Long Island City, New York, United States

Submitter(s)

Anthony Baez, MD

Breast Surgery Fellow
NYU Grossman School of Medicine
Long Island City, New York, United States

Author(s)

Anthony Baez, MD

Breast Surgery Fellow
NYU Grossman School of Medicine
Long Island City, New York, United States
ZO

Zeynep Ozdemir, MD

Resident Physician
Istanbul University Cerrahpasa - Cerrahpasa School of Medicine, United States
LA

Likolani Arthurs, MD

Resident Physician
NYU Grossman School of Medicine, United States
AM

Alyssa Marmer, BA

Research Associate
NYU Langone Health, United States
TA

Thomas Amburn, MD

Resident Physician
NYU Grossman School of Medicine, United States
CD

Charles Dimaggio, PhD, MPH

Professor of Surgery and Population Health
NYU Grossman School of Medicine, United States
AG

Amber Guth, MD

Breast Fellowship Program Director
NYU Grossman School of Medicine, United States
FS

Freya Schnabel, MD

Director of Breast Surgery
NYU Grossman School of Medicine, United States

Introduction: The All of Us Research Program is a National Institutes of Health initiative aimed at gathering health and genetic information from over 1 million Americans, with an emphasis on enrolling historically underrepresented groups. In the U.S., germline genetic testing is increasingly utilized for patients at risk, and those with newly diagnosed breast cancer. The current study was designed to compare the rate of participation in contributing genetic information between women with breast cancer and those unaffected by the disease.

Methods:
The All Of Us database was queried for participants who self-reported as female at birth, and stratified by breast cancer history and contribution of genomic data (short or long read whole genome sequencing or array data). Statistical analysis consisted of descriptive epidemiology, comparisons of the rate of genomic data contribution, and the odds ratio for the association of breast cancer history with contribution of genomic data.

Results:
The All of Us database included 249,565 individuals who self-reported as female at birth at the time of our analysis. 139,376 (55.8%) of these participants identified as White, 8,532 (3.4%) Asian, and the remaining did not specify or identified with a smaller racial group. 49,407 (19%) participants identified as Hispanic/Latino. 45,280 (18.1%) participants identified as Black or African American, which is a larger proportion compared with recent U.S. population census estimates (13.6%).

185,210 (74.2%) of female participants contributed genomic data. Those with a history of breast cancer had a genomic data contribution rate of 89.0% (7,977 of 8,961), compared with 73.7% (177,233 of 240,604) in those without a history of breast cancer. The 15.3% (95% CI 14.7-16.0) difference between these two groups was statistically significant (p < 0.0001). Women with a history of breast cancer were 21% more likely to have contributed genomic data compared to women without a history of breast cancer (Odds Ratio = 1.21, 95% CI 1.17, 1.25, p < 0.0001).

Conclusions: Women with a history of breast cancer were more likely to contribute genomic data to the All of Us program than women who were unaffected. This may be a result of their increased familiarity with cancer genetics. In comparison to recent U.S. census estimates, there was a greater proportion of Black or African American female participants in the All of Us program, suggesting successful diversity-focused recruitment strategies that should improve the understanding of genetics in this historically underrepresented group.

Learning Objectives:
Describe the rate of genomic data contribution from women in the All of Us Research Program.
Describe the difference in the rate of genomic data contribution between women with a history of breast cancer and those unaffected in the All of Us Research Program.
Describe the racial and ethnic distribution of women in the All of Us Research Program compared to recent U.S. census estimates and how this represents successful diversity-focused participant enrollment.