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The DIRECT-study - Disclosure of genetic risk to prevent cancer

Research project Direct Information to At-risk Relatives - a Randomized Controlled Multicentre Trial of Healthcare-assisted Versus Family-mediated Disclosure of Hereditary Cancer Risk Information in High-risk Families in Sweden

Inherited genetic changes make some families more susceptible to cancers than others. If such changes are found and identified, the inherited risk can be addressed by targeted surveillance or preventive surgery. To enable preventive efforts at-risk relatives need to be informed. This study investigates if healthcare-assisted disclosure of genetic risk information can affect the number of at-risk relatives approaching a cancer genetic unit for counselling and give more individuals access to preventive care.

Head of project

Anna Rosén

Project overview

Project period:

2019-09-02 2023-11-30

Participating departments and units at Umeå University

Department of Historical, Philosophical and Religious studies, Department of Nursing, Department of Radiation Sciences

Research area

Cancer, Philosophy and philosophy of science

External funding

Forte, Swedish Cancer Society, Region Västerbotten

Project description

Targeted surveillance of at-risk relatives in families with confirmed hereditary cancer is a proven effective method for cancer prevention. Current clinical practice in Sweden, and most other countries, involves asking the patient herself to inform at-risk relatives. As this type of family-mediated disclosure is not very effective less than half of at-risk relatives actually receive information - effectively stopping those affected from making informed decisions about their health.

This study is evaluating two alternative protocols for disclosure of genetic information in high-risk families; the current family-mediated pathway and a healthcare-assisted disclosure pathway with personalised letters sent directly to at-risk relatives.  

The research results will help us answer if..
1. an intervention with direct letters addressed to at-risk relatives influence the proportion of relatives contacting a Swedish cancer genetics unit within 12 months, as compared with standard family-mediated disclosure.
2. direct letters to relatives is a safe and acceptable practice as means to reach more individuals with preventive measures.
3. the offer of assisted disclosure with direct letters to relatives is attractive and desired by probands undergoing a cancer genetic investigation.

The study’s main component is a randomized controlled trial (RCT). It will be conducted at four Swedish cancer genetics units involving 600 families with increased hereditary risk of developing breast, ovarian or colorectal cancer.

Besides the described intervention, a mixed method follow-up study will measure qualitative and quantitative outcomes through questionnaires and in-depth interviews.

External funding