Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Sep;12(18):19112-19125.
doi: 10.1002/cam4.6485. Epub 2023 Aug 30.

Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study

Boya Guo  1 , Sarah Knerr  1 , Tia L Kauffman  2 , Kathleen F Mittendorf  3 , Erin Keast  2 , Marian J Gilmore  4 , Heather Spencer Feigelson  5 , Frances L Lynch  2 , Kristin R Muessig  4 , Sonia Okuyama  6 , Jamilyn M Zepp  4 , David L Veenstra  7 , Li Hsu  1   8 , Amanda I Phipps  1   8 , Sara Lindström  1   8 , Michael C Leo  2 , Katrina A B Goddard  4 , Benjamin S Wilfond  9   10 , Beth Devine  1   7 ; CHARM Study team
Collaborators, Affiliations

Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study

Boya Guo et al. Cancer Med. 2023 Sep.

Abstract

Background: Genetic testing can identify cancer risk early, enabling prevention and early detection. We describe use of risk management interventions following genetic testing in the Cancer Health Assessment Reaching Many (CHARM) study. CHARM assessed risk and provided genetic testing to low income, low literacy, and other underserved populations that historically face barriers to accessing cancer genetic services.

Methods: CHARM was implemented in Kaiser Permanente Northwest (KPNW) and Denver Health (DH) between 2018 and 2020. We identified post-testing screening (mammography, breast MRI, colonoscopy) and surgical (mastectomy, oophorectomy) procedures using electronic health records. We examined utilization in participants who did and did not receive actionable risk management recommendations from study genetic counselors following national guidelines.

Results: CHARM participants were followed for an average of 15.4 months (range: 0.4-27.8 months) after results disclosure. Less than 2% (11/680) received actionable risk management recommendations (i.e., could be completed in the initial years following testing) based on their test result. Among those who received actionable recommendations, risk management utilization was moderate (54.5%, 6/11 completed any procedure) and varied by procedure (mammogram: 0/3; MRI: 2/4; colonoscopy: 4/5; mastectomy: 1/5; oophorectomy: 0/3). Cancer screening and surgery procedures were rare in participants without actionable recommendations.

Conclusion: Though the number of participants who received actionable risk management recommendations was small, our results suggest that implementing CHARM's risk assessment and testing model increased access to evidence-based genetic services and provided opportunities for patients to engage in recommended preventive care, without encouraging risk management overuse.

Keywords: Lynch syndrome; genetic testing; genomic sequencing; health service utilization; hereditary breast and ovarian cancer; hereditary cancer; underserved populations.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
CHARM study participation flow chart.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Antoniou AC, Easton DF. Models of genetic susceptibility to breast cancer. Oncogene. 2006;25(43):5898‐5905. doi: 10.1038/sj.onc.1209879 - DOI - PubMed
    1. Hu C, Polley EC, Yadav S, et al. The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort. JNCI: J Natl Cancer Inst. 2020;112(12):1231‐1241. doi: 10.1093/jnci/djaa023 - DOI - PMC - PubMed
    1. Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402‐2416. doi: 10.1001/jama.2017.7112 - DOI - PubMed
    1. Dominguez‐Valentin M, Sampson JR, Seppälä TT, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the prospective Lynch syndrome database. Genet Med. 2020;22(1):15‐25. doi: 10.1038/s41436-019-0596-9 - DOI - PMC - PubMed
    1. Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi‐society task force on colorectal cancer. Am J Gastroenterol. 2014;109(8):1159‐1179. doi: 10.1038/ajg.2014.186 - DOI - PubMed

Publication types