A groundbreaking new blood test developed by BC Cancer is changing how families identify and manage inherited cancer risk, eliminating unnecessary testing on one side of a family while bringing life-saving clarity to the other.
BC Cancer scientists have developed a world-first technology, Parent-of-Origin-Aware Genomic Analysis (POAga) which can determine, with 98% accuracy, whether a cancer-causing gene mutation was inherited from a patient's mother or father – using only a single blood sample.
Inherited mutations in genes such as BRCA1 and BRCA2, which increase the risk of breast, ovarian, prostate and pancreatic cancer, account for about 10% of all cancers.
“Until now, determining which side of a family carries a mutation has required testing multiple relatives on both sides – something that is often difficult or impossible if parents are no longer living, unwilling or unavailable to test, or if biological family history is unknown," says Dr. Kasmintan Schrader, co-medical director of BC Cancer's Hereditary Cancer Program.
POAga changes that.
“It's the biggest advance in hereditary cancer testing technology in decades, and it will transform cancer prevention for generations."
By pinpointing which parent a mutation came from, the test immediately clarifies risk for one side of a family while relieving uncertainty, stress and worry for the other, and dramatically improving the efficiency of genetic screening across the health care system.
In a pilot POAga study focused on pancreatic cancer, blood samples from just nine patients helped determine hereditary risk for 188 extended relatives.
For relatives who may carry the mutation, this insight enables access to genetic testing, earlier screening and preventive care that can stop cancer before it starts.
Eligible patients can access this research testing through the Hereditary Cancer Program or enquire about their eligibility with the research team. For more info: Email chuyi.zheng@bccancer.bc.ca.
The research was generously supported by funding from the BC Cancer Foundation.
This story has been adapted and shortened from a BC Cancer Foundation article: A BC Cancer Breakthrough in Advancing Early Detection and Prevention in Hereditary Cancer