A University of Michigan study published in JAMA Network Open demonstrates that online educational resources and phone-based motivational coaching increased cancer genetic testing rates among high-risk adults. Though 10% of overall cancers involve inherited variants, only 1 in 15 eligible patients currently gets tested. Addressing hereditary risks like Lynch syndrome through cascade testing offers actionable opportunities for early cancer intervention.
Testing uptake results from the trial
- ▪A University of Michigan Rogel Cancer Center study found that online digital resources and phone-based coaching increased cancer genetic testing uptake and intent compared to usual care.
- ▪In the Michigan Genetic Hereditary Testing trial, 5% of participants completed genetic testing at six months and 10% completed testing after one year.
Trial design and intervention methods
- ▪The digital and phone coaching interventions in the University of Michigan study incorporated genetics education and motivational interviewing principles.
- ▪The Michigan Genetic Hereditary Testing trial enrolled 793 Michigan adults who met clinical criteria for genetic evaluation based on personal or family history of cancer.
- ▪Participants in the Michigan Genetic Hereditary Testing trial were randomized to receive phone-based health coaching, a self-directed digital intervention, or usual care.
Barriers to genetic testing
- ▪Lead study author Sarah Austin stated that facilitating genetic testing requires addressing access and referral pathways alongside bridging the knowledge gap.
- ▪Michigan Medicine clinical professor Elena Stoffel identified access, cost, privacy concerns, and fear as key barriers to cancer genetic testing.
Cancer genetic testing uptake
- ▪In 2013, Angelina Jolie revealed her BRCA1 gene mutation in a New York Times op-ed, leading to a 64% increase in United States BRCA genetic testing within 15 business days.
- ▪Approximately 10% of cancers are linked to inherited genetic variants, but only about one in 15 eligible cancer patients completes genetic testing.
Risks and detection of Lynch syndrome
- ▪Cascade testing allows relatives of individuals diagnosed with Lynch syndrome to undergo genetic screening and implement preventive early cancer detection measures.
- ▪Lynch syndrome increases the lifetime risk of colorectal cancer by up to 56% for specific genetic variants, alongside higher risks for ovarian, uterine, and pancreatic cancers.
- ▪An estimated 95% of the 1.2 million Americans with Lynch syndrome are unaware they carry the hereditary gene mutation.
Preventive genetic screening strategies
- ▪A 2021 study cited by City of Hope professor Heather Hampel indicated that 16.4% of 713 early-onset colorectal cancer cases could have been prevented through earlier genetic screening or family history awareness.
- ▪United States CDC guidelines recommend that colon and uterine cancer patients have tumors biopsied for Lynch syndrome, followed by genetic screening if abnormal findings occur.
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