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
. 2024 Nov 8;22(1):24.
doi: 10.1186/s13053-024-00298-0.

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Callan D Russell  1   2 , Ashley V Daley  1 , Durand R Van Arnem  1 , Andi V Hila  1 , Kiley J Johnson  1 , Jill N Davies  1 , Hanah S Cytron  1 , Kaylene J Ready  3 , Cary M Armstrong  1 , Mark E Sylvester  1 , Colleen A Caleshu  4
Affiliations

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Callan D Russell et al. Hered Cancer Clin Pract. .

Abstract

Background: Efficient and scalable solutions are needed to identify patients who qualify for germline cancer genetic testing. We evaluated the clinical validity of a brief, patient-administered hereditary cancer risk assessment digital tool programmed to assess if patients meet criteria for germline genetic testing, based on personal and family history, and in line with national guidelines.

Methods: We applied the tool to cases seen in a nationwide telehealth genetic counseling practice. Validity of the tool was evaluated by comparing the tool's assessment to that of the genetic counselor who saw the patient. Patients' histories were extracted from genetic counselor-collected pedigrees and input into the tool by the research team to model how a patient would complete the tool. We also validated the tool's assessment of which specific aspects of the personal and family history met criteria for genetic testing. Descriptive statistics were used.

Results: Of the 152 cases (80% female, mean age 52.3), 56% had a personal history of cancer and 66% met genetic testing criteria. The tool and genetic counselor agreed in 96% of cases. Most disagreements (4/6; 67%) occurred because the genetic counselor's assessment relied on details the tool was not programmed to collect since patients typically don't have access to the relevant information (pathology details, risk models). We also found complete agreement between the tool and research team on which specific aspects of the patient's history met criteria for genetic testing.

Conclusion: We observed a high level of agreement with genetic counselor assessments, affirming the tool's clinical validity in identifying individuals for hereditary cancer predisposition testing and its potential for increasing access to hereditary cancer risk assessment.

Keywords: Cancer risk assessment; Genetic testing; Hereditary cancer.

PubMed Disclaimer

Conflict of interest statement

CR, AD, DV, AH, KJ, JD, HC, CA, MS, CC declare employment at Genome Medical; AD, DV, AH, KJ, JD, HC, CA, MS, CC declare stock and/or stock options in Genome Medical; KJ, JD, MS declare leadership in Genome Medical; CR, AD, DV, AH, KJ, JD, KR, CA, MS, CC declare a patent pending on technology underpinning the digital tool that is the focus of this article; KR declares stock options in Stata Oncology; DV declares employment, ownership interest, and consulting with Call Light Health.

Figures

Fig. 1
Fig. 1
The hereditary cancer risk assessment digital tool (RISE). Screenshots of various steps in the digital tool including instructions to the patient, sample personal history questions, sample family history questions. Images courtesy of Genome Medical. Used with permission
Fig. 2
Fig. 2
Level of agreement between tool and genetic counselor (A) Stacked bar chart showing the percentage of cases with agreement in assessments made by the tool and the GC (96% [146/152]) (B) Reasons for disagreement in the 3.9% (6/152) of cases where the tool’s and GC’s assessments differed. The tool does not ask about clinical details patients typically cannot report such as MSI/IHC and risk of having a germline pathogenic variant based on the PREdiction Model for gene Mutations (PREMM5), nor does it account for half relationships. In one case the GC applied their clinical judgment in interpreting a patient’s history of polyps in a manner that the tool could not. (a) PREMM = PREdiction Model for gene Mutations. (b) MSI/IHC = Microsatellite Instability/Immunohistochemistry
See this image and copyright information in PMC

References

    1. US Preventive Services Task Force, Owens DK, Davidson KW, Krist AH, Barry MJ, Cabana M, et al. Risk Assessment, genetic counseling, and genetic testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;322:652–65. - PubMed
    1. Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National Estimates of Genetic Testing in Women with a history of breast or ovarian Cancer. J Clin Oncol. 2017;35:3800–6. - PMC - PubMed
    1. Parente DJ. BRCA-Related Cancer Genetic Counseling is indicated in many women seeking primary care. J Am Board Fam Med. 2020;33:885–93. - PubMed
    1. Linfield DT, Rothberg MB, Pfoh ER, Noss R, Cassard L, Powers JC, et al. Primary care physician referral practices regarding BRCA1/2 genetic counseling in a major health system. Breast Cancer Res Treat. 2022;195:153–60. - PubMed
    1. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, et al. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021;19:199. - PMC - PubMed

LinkOut - more resources