Cascade genetic testing: an underutilized pathway to equitable cancer care?
The Precision Medicine Initiative was launched upon the potential of genomic information to tailor medical care. Cascade genetic testing represents a powerful application of precision medicine and involves the process of familial diffusion or the "cascade" of genomic risk information. When an individual (proband) is found to carry a cancer-associated germline pathogenic mutation, the information should be cascaded or shared with at-risk relatives. First degree relatives have a 50% likelihood of carrying the same cancer-associated mutation. This process of cascade testing offers at-risk relatives the opportunity for genetic testing and, for those who also carry the cancer-associated mutation, genetically targeted primary disease prevention through intensive cancer surveillance, chemoprevention and risk-reducing surgery, reducing morbidity and preventing mortality. Cascade testing has been designated by the Centers for Disease Control and Prevention as a Tier 1 genomic application for hereditary breast and ovarian cancer. In this manuscript we describe a cascade genetic testing and in particular focus on its potential to provide necessary care to medically underserved and vulnerable populations.
Journal
Familial CancerAuthors
Funding
Training of Academic Gynecologic OncologistsCancer Center Support GrantNCTN Deep South Research ConsortiumWashington University Institute of Clinical and Translational Sciences (KL2)I. Institutional Career Development CoreObstetrical and Oncological Outcomes Among Reproductive Age Women with Gynecological and Breast CancerCancer Center Support GrantNCTN Deep South Research ConsortiumObstetrical and Oncological Outcomes Among Reproductive Age Women with Gynecological and Breast Cancer