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The DIRECT-study

Disclosure of genetic risk to prevent cancer

Research project Identification of inherited variants in cancer-predisposing genes in cancer patients may result in tailored treatment and follow-up. The knowledge also opens up the opportunity of predictive testing to genetic relatives at risk of carrying the same variant. But, to enable testing and preventive efforts at-risk relatives need to be informed, and the question is - how is this information safely and efficiently transferred to the relatives?

Inherited genetic variants make some families more susceptible to cancers than others. If such variants are identified, the inherited cancer risk can be addressed by targeted surveillance or preventive surgery. To enable preventive efforts at-risk relatives need to be informed. This research project conduct a pragmatic clinical randomized controlled trial investigating if healthcare-assisted disclosure of genetic risk information can affect the number of at-risk relatives approaching a cancer genetic unit for counselling.

Head of project

Anna Rosén

Project overview

Project period:

2019-09-02 2025-12-31

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, Swedish Research Council, Cancerforskningsfonden Norrland

Project description

At post-test genetic counselling revealing a variant in a cancer-predisposing gene, current clinical practice in Sweden, and most other countries, involves encouraging the patient herself to inform relatives. This type of family-mediated disclosure is not very effective, uptake of testing in at-risk relatives is less than 50%.

This study is evaluating two alternative protocols for disclosure of genetic information in families with hereditary breast, ovarial or colorectal cancer;

Control arm: standard care with family-mediated disclosure and

Intervention arm: standard care with family-mediated disclosure with the addition of an offer of a healthcare-assisted disclosure pathway with personalised direct letters sent directly to at-risk relatives.  

This multicenter study recruits patient from the cancergenetic clinics in Umeå, Stockholm, Gothenburg and Lund.

The official name of the study is "Direct letters to relatives at risk of hereditary cancer –a randomised controlled trial of healthcare-assisted versus family-mediated risk disclosure at cancer genetics clinics in Sweden (DIRECT-study)" with ClinicalTrials.gov Identifier: NCT04197856 (pre-trial registration).

Besides the described clinical trial, a mixed method follow-up study measure patient-reported outcomes with qualitative and quantitative data collection methods.

External funding

Latest update: 2023-11-06