RECRUITING

Genetic Testing in Young Adults With Cancer Study

Description

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

Study Overview

Study Details

Study overview

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.

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

Genetic Testing in Young Adults With Cancer Study

Condition
Cancer
Intervention / Treatment

-

Contacts and Locations

Philadelphia

University of Pennsylvania, Philadelphia, Pennsylvania, United States, 19104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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)
  • * 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

Ages Eligible for Study

18 Years to 40 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of Pennsylvania,

Katherine L Nathanson, MD, PRINCIPAL_INVESTIGATOR, University of Pennsylvania

Steven Joffe, MD, PRINCIPAL_INVESTIGATOR, University of Pennsylvania

Study Record Dates

2025-08-20