Deficiencies in germline genetic testing in young-onset colorectal cancer patients

Hannah Ficarino; Ben Cage; Jean Paul Osula; Alexis Heatherly; Daniel Chu; Sushanth Reddy; Smita Bhatia; Robert Hollis

doi:10.1016/j.amjsurg.2024.01.022

Deficiencies in germline genetic testing in young-onset colorectal cancer patients

Am J Surg. 2024 Jun:232:126-130. doi: 10.1016/j.amjsurg.2024.01.022. Epub 2024 Jan 26.

Authors

Hannah Ficarino¹, Ben Cage², Jean Paul Osula³, Alexis Heatherly⁴, Daniel Chu⁵, Sushanth Reddy⁶, Smita Bhatia⁷, Robert Hollis⁸

Affiliations

¹ Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: hficarino@uabmc.edu.
² Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: bbcage@uab.edu.
³ Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: josula27@uab.edu.
⁴ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: acoates@uabmc.edu.
⁵ Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA.
⁶ Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: sreddy@uabmc.edu.
⁷ Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: smitabhatia@uabmc.edu.
⁸ Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA; Institute for Cancer Outcomes and Survivorship, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: rhhollis@uabmc.edu.

PMID: 38302366
PMCID: PMC11090699 (available on 2025-06-01)
DOI: 10.1016/j.amjsurg.2024.01.022

Abstract

Background: Young-onset colorectal cancer (YO-CRC) patients have high rates of pathologic genetic variants on germline testing, however it is unclear what factors are associated with genetic testing completion.

Methods: We performed a retrospective review of YO-CRC patients aged ≤50 years between 2014 and 2021 who received the entirety of their cancer care at a single institution. The primary outcome was completion of germline multigene panel testing. Variables were examined for association with germline multigene panel testing.

Results: Among 100 YO-CRC patients, only 31 % (n = 31) completed genetic testing. Testing rates did not differ by colorectal cancer stage but were significantly higher among patients who received chemotherapy (39.8 % vs 5.9 %; p = 0.01) and in patients with increasing number of relatives with a family history of cancer (p < 0.01).

Conclusions: Only one-third of YO-CRC patients completed genetic testing. Patients seen by oncology or with increasingly strong family cancer history were more likely to complete genetic testing.

Keywords: Colorectal cancer; Genetic counseling; Genetic testing; Young-onset.

MeSH terms

Adult
Age of Onset*
Colorectal Neoplasms* / diagnosis
Colorectal Neoplasms* / genetics
Female
Genetic Predisposition to Disease
Genetic Testing*
Germ-Line Mutation*
Humans
Male
Middle Aged
Retrospective Studies
Young Adult

Grants and funding

T32 CA229102/CA/NCI NIH HHS/United States