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.
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.