Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer

843047

The overarching goal of our research is to define an evidence-based, sustainable approach to identifying and managing genetic risk among young adults with cancer and their relatives. Conventional practice leaves referral and testing decisions to mostly non-expert clinicians implementing complex guidelines at the point of care, leading to substantial under-utilization. The investigators hypothesize that panel-based universal screening coupled with electronic medical record- (EMR-) based algorithms can improve ascertainment of genetic risk by functioning as an automated, radically simplified default practice in place of repeated single decisions requiring clinician cognitive effort and action. A secondary goal is to explore differences in ascertainment of genetic risk among first-degree relatives of probands.

2020-12-01

2025-01-02

2025-08-20

Recruiting

1238

Inclusion Criteria: * Patients will be eligible if they meet the following criteria: * Diagnosed with a solid tumor between age 18-39 (patients may be 40 years of age at time of enrollment) * Within one year of diagnosis with index cancer * Have had at least two visits at Penn Medicine for the cancer diagnosis (to exclude one-time second opinions) Exclusion Criteria: Patients will be excluded if they meet any of the following criteria: * Diagnosis of in situ cancer, thyroid cancer (papillary or follicular), or leukemia Breast cancer diagnosis (aim 1 only) * Have a known genetic predisposition to cancer * Underwent genetic testing after this cancer diagnosis * Have a benign neoplasm

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'RANDOMIZED', 'interventionModel': 'PARALLEL', 'interventionModelDescription': 'The study is a randomized controlled trial among young adult cancer patients that will compare an investigational strategy for detecting genetic risk (universal testing of all eligible patients using a broad panel of cancer risk genes) vs. the standard strategy (referring the subset of patients who meet certain guideline criteria, based on age, cancer type, and family history, for genetic counseling and testing). We will test the hypothesis that the investigational strategy detects substantially more patients as having genetic risk than the standard strategy.', 'primaryPurpose': 'HEALTH_SERVICES_RESEARCH', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 1238, 'type': 'ESTIMATED'}}

2024-02-09