Genetic Screening Should Focus on People with Cancer

Genetic screening should focus on testing young people who develop bowel cancer to determine if it was caused by an inherited genetic fault that might be shared by other family members. This could effectively halve deaths caused by an inherited form of bowel cancer.

Bowel cancer is one of the most common forms of cancer in Australia. There are about 1,000 cases each year diagnosed in people under the age of 50, and about 10% of these (100 per year) are the result of genetic fault that can now be detected.

"If we redirect the emphasis of our genetic screening programs to focus more on people who already have cancer we can make a really big difference,” said Prof. Hopper, an Australia Fellow of the National Health and Medical Research Council in the Melbourne School of Population Health at the University of Melbourne (Parkville, Australia). "We can work with patients to help prevent them developing new cancers, or at least detect them at an early stage, and we can arm their families with the knowledge to help save lives.”

A similar approach could also be taken to improve genetic testing for breast cancer by studying the tumors of young women who developed the disease. "Breast cancers arising in young women with an inherited fault in BRCA1 have particular features that pathologists can easily identify.” said Prof. Hopper. "Women with an inherited fault in BRCA1 have about a 60% lifetime risk of developing breast cancer, and a 40% lifetime risk of developing ovarian cancer.”

However, it would still be appropriate to offer genetic testing to people with a very strong family history of breast or bowel cancers, especially if it involved diagnoses before the age of 50.

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University of Melbourne Medical School