Direct information to at-risk relatives - A randomized controlled trial of healthcare-assisted versus family-mediated disclosure of hereditary cancer risk and prevention (The DIRECT-study)

Genetic testing for cancer predisposition has implications not only for the individual patient but also for his/her genetic relatives. The current clinical practice is to request that the patient pass on relevant information to family members.

Such family-mediated disclosure is not very effective; studies show that less than half of at-risk relatives seek genetic counselling and testing.

We are now evaluating effectiveness of a new healthcare-assisted approach to disclose hereditary cancer risk in a multi-center randomized controlled superiority trial (RCT) at Swedish cancer genetics units. Families with increased risk of breast, ovarian or colorectal cancer are randomized.

The intervention, featuring an offer of mailed letters directly to at-risk relatives, is compared with current clinical praxis of family-mediated disclosure. The primary outcome is the proportion of at-risk relatives contacting a cancer genetics unit within twelve months. To date, 358 relatives are listed for outcome assessment (aim 1) (target n=490).

We also assess safety and emotional response (aim 2) including psychometric measures to identify potential psychological effects. Both qualitative and quantitative methods are employed. We also want to explore attitudes on risk disclosure among genetic health care professionals (aim 3).

Our results can support personalized prevention efforts through disclosure of potentially life-saving information to individuals at risk of hereditary cancer.