Cascade Genetic Testing: An Underutilized Pathway to Equitable Cancer Care?

Authors

Roni Nitecki Wilke
Erica M Bednar
Sara Pirzadeh-Miller
Sayoni Lahiri
Isabel C Scarinci
Charles A Leath Iii
Melissa K Frey
Karen H Lu
J Alejandro Rauh-Hain

Publication Date

6-1-2024

Journal

Familial Cancer

Abstract

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.

Keywords

Humans, Genetic Testing, Female, Genetic Predisposition to Disease, Precision Medicine, Germ-Line Mutation, Genetic Counseling, Neoplasms, Ovarian Neoplasms, Breast Neoplasms

DOI

10.1007/s10689-024-00367-2

PMID

38748383

PMCID

PMC11751770

PubMedCentral® Posted Date

1-22-2025

PubMedCentral® Full Text Version

Author MSS

Published Open-Access

yes