Clinical utility of widespread germline testing of cancer patients in a diverse community cancer clinic

e18537 Background: Identification of germline mutations can determine prognosis, inform targeted therapies, allow risk-reducing interventions, and suggest additional cancer screenings in patients and their biological relatives. Large prospective cohort studies have been historically skewed towards w...

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Bibliographic Details
Published in:	Journal of clinical oncology Vol. 40; no. 16_suppl; p. e18537
Main Authors:	Patel, Kashyap B., Oh, William K., Jun, Tomi, Naidu, Sashi, Nathwani, Nyati, Hansen, Gabriel, Hubert, Adara, Mukhi, Hirangi, Chhadwa, Shilpa, Zabala, Valerie, Gill, Sonia, Branchcomb, Randall, Mehta, Dhwani, Nixon, Sandra, Kodali, Ashima, Zimmerman, Michelle
Format:	Journal Article
Language:	English
Published:	01-06-2022
Online Access:	Get full text
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Summary:	e18537 Background: Identification of germline mutations can determine prognosis, inform targeted therapies, allow risk-reducing interventions, and suggest additional cancer screenings in patients and their biological relatives. Large prospective cohort studies have been historically skewed towards wealthier socioeconomic populations that lack ethnic diversity and vastly underrepresent African Americans. Recently, small studies outside of standard clinical guidelines reveal detection of pathogenic variants in germline testing with significant clinical ramifications. We present our single center experience of prospective germline testing in a small community clinic in suburban and rural South Carolina with understudied real-world populations. Methods: We performed germline testing, outside of guidelines, in patients presenting at earlier age or with either rare tumors, or recurrent/multiple malignancies. This prospective, observational cohort included a suburban and rural underserved population where approximately 30% identify as African American. Patients were counselled about testing that performed outside of guidelines. Results: We identified 67 individuals outside the guidelines concordance, compromising of 45 male and 22 female patients, within the first 6 months of this prospective, observational cohort. Patients reported race as African American (14), White (50), or Asian American (3). Rare germline findings included Li Fraumeni syndrome, Fanconi’s syndrome, Perelman’s disease, and Von Hippel Lindau’s disease. We summarize our findings in the attached table. Conclusions: There are limited studies that report prevalence of germline findings in cancer patients who are unselected by clinical practice guidelines. Studies also lack representation of ethnic minorities. Recently published data on the clinical utility of broad-based germline testing of all incoming patients suggest current practice of guidelines and genetic counselor recommended testing should be re-examined for broader testing for all incoming cancer patients in a more inclusive manner.[Table: see text]
ISSN:	0732-183X 1527-7755
DOI:	10.1200/JCO.2022.40.16_suppl.e18537