There are at least 200 known people in Newfoundland and Labrador with inherited defects in the BRCA genes — mutations that cause high rates of cancer.

For women with BRCA, the risk of developing breast cancer can be as high as 75 per cent and the risk for developing ovarian cancer can be up to 40 per cent. For men, it means higher risks of prostate cancer.

Research has shown that one in 300 people worldwide carry such a faulty gene, meaning there could be an additional 1,300 people in this province carrying the gene.

Early detection

National recommendations are that mutation carriers use screening and preventive surgeries to eliminate or lower their cancer rates, or to detect cancers earlier, improving their survival by more than 70 per cent.

Early detection does make a difference: Research shows that preventive ovarian surgery is highly effective because ovarian cancer has no proven screening test and a poor survival rate. Meanwhile, stage one breast cancer has a survival rate of 90 per cent, whereas a woman diagnosed at stage four faces a survival rate of 15 per cent.

The N.L. BRCA research study, led by Dr. Lesa Dawson, associate professor at the Faculty of Medicine and gynecologic oncologist, discovered that more than half of BRCA carriers in Newfoundland and Labrador are not accessing cancer prevention and screening according to those national guidelines.

With funding from an N.L. SUPPORT research grant, Dr. Dawson and her team hope to find out why.

Complex care

In this province, routine clinical BRCA testing is available for patients who have multiple relatives with cancer at a young age.

If a BRCA mutation is found, patients may receive genetic counselling and be referred to general or plastic surgeons, and/or medical and gynecologic oncologists.

Patients then are required to make complex decisions about how and when they will tackle the different prevention options, such as mastectomy, removal of fallopian tubes and ovaries or breast reconstruction.

“Women who attend a clinic offering specialty cancer genetics expertise are far more likely to access proper cancer prevention.” — Dr. Lesa Dawson

That complexity of cancer prevention and the lack of cohesive care, in particular the gaps in primary care, is the focus of Dr. Dawson’s current study.

“Our patients tell us that the complicated nature of this problem is the biggest barrier to execution of proper care,” she noted. “Our study has proven that women who attend a clinic offering specialty cancer genetics expertise are far more likely to access proper cancer prevention and screening at the right time.”

Patient partners

As Dr. Dawson points out, there is no co-ordinated support or followup for high risk individuals, nor is there quality assurance around completion of screening or prevention interventions.

The quality of care for these mutation-positive Newfoundlanders and Labradorians rests solely on the individual themselves or the family physician.

“There’s no initiative specifically directed at following these women largely because they haven’t had cancer yet, so they don’t fit under a program.”

Dr. Dawson’s team and patient partners are drafting recommendations about how the province can build “Inherited Cancer Prevention N.L.,” providing mutation carriers with effective navigation and access to expert advice.

“Our study is developed with patients as research partners from the outset and includes them in the identification of solutions and recommendations. We have an opportunity to identify these families and implement cost-effective care that saves lives.”