Clinical trial · Interventional
Genetic Testing in Young Adults With Cancer Study
Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 17, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260917-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cancer | Malignant Neoplasm | ALIAS | 0.90 |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Broad gene panel for young adult cancers | Genetic | — | UNRESOLVED |
| Standard | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- type
- EXPERIMENTAL
- label
- Universal genetic testing
- description
- Detection of genetic risk using a broad panel of cancer risk genes.
- interventionNames
- Genetic: Broad gene panel for young adult cancers
- type
- ACTIVE_COMPARATOR
- label
- Standard
- description
- We will refer a subset of patients who meet guideline criteria based on age, cancer type, and family history, for genetic counseling and testing.
- interventionNames
- Genetic: Standard
Primary outcomes (1)
- measure
- Phenotype-based vs panel-based sequencing
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
- Maximum age
- 40 Years
Show eligibility criteria text
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
References
Publications (45)
- BACKGROUNDPesola F, Ferlay J, Sasieni P. Cancer incidence in English children, adolescents and young people: past trends and projections to 2030. Br J Cancer. 2017 Dec 5;117(12):1865-1873. doi: 10.1038/bjc.2017.341. Epub 2017 Nov 2. PMID 29096400
- BACKGROUNDTricoli JV, Blair DG, Anders CK, Bleyer WA, Boardman LA, Khan J, Kummar S, Hayes-Lattin B, Hunger SP, Merchant M, Seibel NL, Thurin M, Willman CL. Biologic and clinical characteristics of adolescent and young adult cancers: Acute lymphoblastic leukemia, colorectal cancer, breast cancer, melanoma, and sarcoma. Cancer. 2016 Apr 1;122(7):1017-28. doi: 10.1002/cncr.29871. Epub 2016 Feb 5. PMID 26849082
- BACKGROUNDSmith AW, Seibel NL, Lewis DR, Albritton KH, Blair DF, Blanke CD, Bleyer WA, Freyer DR, Geiger AM, Hayes-Lattin B, Tricoli JV, Wagner LI, Zebrack BJ. Next steps for adolescent and young adult oncology workshop: An update on progress and recommendations for the future. Cancer. 2016 Apr 1;122(7):988-99. doi: 10.1002/cncr.29870. Epub 2016 Feb 5. PMID 26849003
- BACKGROUNDTricoli JV, Bleyer A. Adolescent and Young Adult Cancer Biology. Cancer J. 2018 Nov/Dec;24(6):267-274. doi: 10.1097/PPO.0000000000000343. PMID 30480571
- BACKGROUNDSiegel RL, Miller KD, Fedewa SA, Ahnen DJ, Meester RGS, Barzi A, Jemal A. Colorectal cancer statistics, 2017. CA Cancer J Clin. 2017 May 6;67(3):177-193. doi: 10.3322/caac.21395. Epub 2017 Mar 1. PMID 28248415
- BACKGROUNDTricoli JV, Boardman LA, Patidar R, Sindiri S, Jang JS, Walsh WD, McGregor PM 3rd, Camalier CE, Mehaffey MG, Furman WL, Bahrami A, Williams PM, Lih CJ, Conley BA, Khan J. A mutational comparison of adult and adolescent and young adult (AYA) colon cancer. Cancer. 2018 Mar 1;124(5):1070-1082. doi: 10.1002/cncr.31136. Epub 2017 Nov 30. PMID 29194591
- BACKGROUNDWilmott JS, Johansson PA, Newell F, Waddell N, Ferguson P, Quek C, Patch AM, Nones K, Shang P, Pritchard AL, Kazakoff S, Holmes O, Leonard C, Wood S, Xu Q, Saw RPM, Spillane AJ, Stretch JR, Shannon KF, Kefford RF, Menzies AM, Long GV, Thompson JF, Pearson JV, Mann GJ, Hayward NK, Scolyer RA. Whole genome sequencing of melanomas in adolescent and young adults reveals distinct mutation landscapes and the potential role of germline variants in disease susceptibility. Int J Cancer. 2019 Mar 1;144(5):1049-1060. doi: 10.1002/ijc.31791. Epub 2018 Nov 21.