ArticleHereditary cancer in clinical practice2024
Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
Article in Hereditary cancer in clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Implementation of Genetic Testing in Prostate Cancer: A Real-World Survey of Outpatient Urologists in Germany (PRO-GEN).Cancers · 2026Article
- Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling.Genetics in medicine open · 2025Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEfficient 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.
methodsWe 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.
resultsOf 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.
conclusionWe 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.
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