Two fellows use online resources to boost genetic testing

Widespread germline testing in the United States could prevent cancer in hundreds of thousands of people. However, despite the known benefits, uptake of genetic testing has been slow: only 1 in 5 people use recommended genetic services, even with a strong family history of colorectal, breast or ovarian cancer.

Widespread germline testing in the United States could prevent cancer in hundreds of thousands of people. However, despite the known benefits, uptake of genetic testing has been slow: only 1 in 5 people use recommended genetic services, even with a strong family history of colorectal, breast or ovarian cancer.1

The barriers to screening most often cited are lack of awareness, difficulty of access and cost.2 Early detection of hereditary cancers and subsequent medical or surgical intervention decrease mortality, so this missed opportunity means an immense loss of life.3

Cascade testing identifies individuals who unknowingly carry pathogenic variants in cancer susceptibility genes through familial dissemination of genetic risk information. Once a patient is diagnosed, genetic testing can be extended to at-risk relatives so that those who carry the familial pathogenic variant can benefit from cancer surveillance and disease-reducing surgery.2

In the United States, approximately 10 million women with no personal history of cancer are at risk of carrying a cancer susceptibility mutation and have not undergone genetic testing. A 2020 study projected that widespread peri-diagnostic cascade testing in the United States with an uptake rate of 70% had the potential to achieve population-wide identification of all susceptibility mutations in the 10 years.1

As early as 2014, the CDC designated the cascade test a level 1 genetic application for hereditary breast, ovarian, and nonpolyposis colorectal cancer (Lynch syndrome).4 But its promise will only be realized when the barriers to testing are removed. Because one of the biggest is lack of awareness, we developed a website to address it, with support from our principal investigator – Melissa Frey, MD, assistant professor of gynecologic oncology at Weill Cornell Medicine – and the funding from the Foundation for Women’s Cancer and the Perlman Family CCARE Lynch Syndrome Research Foundation.

Provide resources to patients and physicians

A free portal, CascadeResources.net lists entities that provide cancer screening guidelines, genetic testing, variant interpretation, counseling, financial assistance, and support forums. The Network is a not-for-profit, independently operated organization, not affiliated with any of the entities listed or linked on the site.

As gynecologic oncology fellows, we focus on surgery, medical oncology, and clinical medicine. So when it came to developing the portal, we turned to website builder and hosting company Squarespace, which made the process much easier for us newbies.

Since our launch in October 2021, monthly page visits have steadily increased and the network continues to expand. As other organizations find out about us and ask to be included, we will be able to provide additional resources.

New members also joined the team: Hannah Bergeron and Muhammad Danyal Ahsan, research assistants at Weill Cornell Medicine, and Emily H. Miller, MD, MPH, OB-GYN resident at New York-Presbyterian Weill Cornell.

We are building a page to help patients and providers navigate ClinicalTrials.gov when searching for specific pathogen variant trials, and we are developing instructional videos for physicians on how to discuss cascade genetic testing with patients. patients and their relatives. To increase the visibility and reach of the network, we collaborate with news and research organizations and study search engine optimization.

CascadeResources.net has been a rewarding project and we hope it will continue to be helpful to patients, their families and healthcare providers.

References

  1. Offit K, Tkachuk KA, Stadler ZK, et al. Cascade after genetic screening for peridiagnostic cancer: an alternative to population-based screening. J Clin Oncol. 2020;38(13):1398-1408.doi:10.1200/JCO.19.02010
  2. Finch APM, Lubinski J, Møller P, et al: Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32(15):1547-1553 doi:10.1200/JCO.2013.53.2820
  3. Frey MK, Kahn RM, Chapman-Davis E, et al. Prospective feasibility test of a new strategy of cascade genetic testing facilitated with the help of telephone advice. J Clin Oncol. 2020;38(13):1389-1397. doi:10.1200/JCO.19.02005
  4. Centers for Control and Prevention of Disasters. Level 1 genomics applications and their importance for public health. March 6, 2014. Accessed January 21, 2022. bit.ly/3Ioet2n

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