One of the benefits of identifying hereditary cancer mutations in individuals is Cascade Testing—being able to offer targeted testing to family members to identify others who are at high risk as well as those who are average risk. Yet historical studies suggest that the uptake of cascade testing is 30% or less.

Certified genetic counselor Francesca Tubito was co-author of a study recently published in The Journal of Clinical Oncology that tested the feasibility of a streamlined method of cascade testing using direct contact of family members by healthcare providers, telephone genetic counseling, and (free/sponsored) saliva-based genetic testing mailed to family members’ homes.

Francesca discusses the success of the study as measured by uptake of testing among at-risk-relatives a well as the challenges in implementing this approach on broader scale.

Study Discussed:

Frey MK, Kahn RM, Chapman-Davis E, et al. Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.” J Clin Oncol. 2020 Jan 10:JCO1902005. (Behind Paywall)

Francesa on LinkedIn

Francesca on Twitter: @FrancescaTGCA

Related Articles & Resources

NIH NCI definition of Cascade Testing

“Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?” CDC Blog Post. May 2018.

ACOG Committee Opinion Number 727. January 2018. “Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer."