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The DIRECT-study

Disclosure of genetic risk to prevent cancer

Research project Identification of inherited patogenic 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 disease-causing variant. The question is - how is this information safely and efficiently transferred to the relatives?

If a patogenic variant in a cancerpredisposing gene is identified in a patient, genetic relatives are at risk of also being a carrier. To enable preventive efforts in them, the relatives need to be aware about their risk. We have conducted a pragmatic clinical randomized controlled trial investigating if healthcare-assisted disclosure to at-risk relatives affect the number of at-risk relatives approaching a cancer genetic unit for counselling, as compared to standard care with family-mediated risk disclosure.

Head of project

Anna Rosén
Physician
E-mail
Email

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%.

We are evaluating two alternative protocols for disclosure of genetic information in families with hereditary cancer risk:

Control arm: standard care with family-mediated disclosure

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, Gothenburg and Lund.

Besides the clinical trial, we conduct a mixed method studies on public attitudes, a survey of health care professionals and patient-reported outcomes with qualitative and quantitative data collection methods.

External funding

Latest update: 2024-01-17