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DIRECT studien

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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 a patient opens up the opportunity of predictive testing to genetic relatives at risk. The question is - how is this information safely and efficiently transferred to the relatives at risk?

If a pathogenic variant in a cancer-predisposing gene is found in a patient, their genetic relatives are at risk and need to be informed to enable cancer prevention efforts. Most genetic clinics currently encourage patients to inform their at-risk relatives, but research shows that some relatives remain uninformed and miss out on prevention. We conducted a clinical trial to see if offering healthcare-assisted disclosure increases the number of at-risk relatives seeking genetic counselling compared to standard patient-led disclosure.

Head of project

Anna Rosén

Project overview

Project period:

2019-09-02 2025-12-31

Participating departments and units at Umeå University

Department of Diagnostics and Intervention, Department of Historical, Philosophical and Religious Studies, Department of Nursing

Research area

Cancer, Philosophy and philosophy of science

External funding

Forte, Swedish Cancer Society, Region Västerbotten, Swedish Research Council, Cancerforskningsfonden Norrland

Project description


A randomized controlled trial

We are conducting a multicenter randomized controlled trial at the cancer genetic clinics in Umeå, Gothenburg, and Lund. Patients invited to the study have an inherited cancerpredisposition (pathogenic variants in BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2, Familial breast cancer or Familial colorectal cancer). The patients are randomised to the following arms:

  • Control arm: Standard care with family-mediated disclosure.
  • Intervention arm: Standard care plus an offer of healthcare-assisted disclosure, including personalized direct letters to at-risk relatives.

(Study protocol in Trials)

Results from the trial will be reported in 2025.

Published results

To understand patients' and relatives' perspectives on risk disclosure, we have performed two qualitative Studies Within A Trial (SWATs):

First SWAT (article in EJHG): We analyzed 17 interviews with patients from both control and intervention groups. Despite agreeing to direct letters, patients also disclosed risk to relatives themselves, especially to close family members. The healthcare-assisted letter was primarily used for distant relatives.

Second SWAT (article in EJHG): We interviewed relatives who received direct letters from healthcare within two weeks of contacting a cancer genetic clinic. Relatives had varying levels of prior knowledge about hereditary cancer risk. Most were notified by a family member about the letter, but some were not. Overall, relatives felt that healthcare-mediated disclosure could complement family-mediated disclosure. They expressed a need for accessible healthcare support when receiving such information and found it easier to cope with the news if a family member had informed them beforehand. They believed healthcare should assist in the disclosure process while ensuring relatives' right to be informed. These findings support healthcare-assisted disclosure as a complement to family-mediated disclosure, but it should be integrated into existing genetic counselling practices.

External funding

Latest update: 2024-05-28