• Brian Shirts


July 2019- Present


News (2)


Cascade Testing with Connect My Variant

How can hereditary cancer be identified early and, possibly, prevented?

Cascade testing is a proven, cost-effective prevention strategy, where someone with a cancer-risk mutation helps relatives get genetic testing and cancer prevention services. Patients are usually encouraged to talk to their children, parents, and siblings about shared genetic risk. However, risk can extend much further on a family tree. When two different people have the exact same cancer-risk mutation in a gene, such as BRCA1, it is very likely that the gene came from a common ancestor.

Online patient discussion forums help people find others with the same mutation. Commercial genetic ancestry services are designed to help connect genetic relatives. The project, ConnectMyVariant, is using these and other resources to help people identify distant relatives with their same mutations. Those familial connections also uncover many others that may be at risk and allow more opportunities to prevent cancer.

While most hereditary cancers are preventable through screening and surgery, most people with hereditary cancer learn of their mutation only after they get cancer. At the present time, there is no widespread project to help people find others with the same genetic risk.

ConnectMyVariant’s goal is to help entire families identify and understand their inherited mutation and, ultimately, help everyone in the family get optimal cancer prevention. Once a gene mutation is identified, ConnectMyVariant can then help connect participants through a support network, coaching to help participants discuss their hereditary mutation with relatives, and hopefully, with the help of genealogists at Brigham Young University, identify new individuals at risk of having those mutations before they get cancer.

Every individual who joins ConnectMyVariant brings their own story and their own family history. As more people join, it will allow increasingly rapid growth of connections and identification of people who can be helped. While it might seem distant, preventing all hereditary cancers is the vision of ConnectMyVariant. In this way, our project takes cascade testing to a new level.

Learn more, including how to participate in the project, at >