To understand patients' and relatives' perspectives on risk disclosure, we have performed two qualitative Studies Within A Trial (SWATs):
First SWAT (): 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 (): 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.
EXPLORATIVE STUDIES
To optimize the design of the RCT and make sure we incorporate the perspective of patients, relatives and Swedish citizens - a number of explorative studies were conducted during the years leading up the the implementation of the DIRECT-study.
Public opinion studies ( 2020, 2022): We surveyed 977 Swedish citizens about their preferences for receiving information on hereditary colorectal cancer (CRC) risk, cancer worry and will to undergo colonoscopy. Cancer worry was higher in women and those with a higher cancer worry were more prone to agree to colonoscopy. Nearly 90% of participants wanted to be informed if they had an increased risk of cancer (moderate lifetime risk of 10% or high at 70%). Women were more keen to be informed than men. Most participants preferred to speak with a healthcare professionals rather than family members, with letters and phone calls being the favored mode of communication. The results suggest strong public support for healthcare-assisted disclosure of hereditary CRC risk to optimize the effect of targeted prevention efforts.
Focus group study ( 2021): This study identified two main themes regarding how the Swedish public perceives genetic risk information about hereditary cancer: “Face an important but difficult challenge” and “Expect healthcare to lead but also support disclosure.” Focus groups (n=18) participants described a moral duty to share risk information despite the emotional burden, and expressed discomfort with laypeople handling complex genetic information without professional support. Surprise and frustration was expressed over current family-mediated disclosure practices, which lack systematic follow-up of at-risk relatives. Participants advocated for a shared responsibility between patients and providers, with a more structured, empathetic, and clinically supervised approach including more personalized information and direct access to enable equal access to informed decision-making.
Patient interview study ( 2024): This qualitative study examined how individuals actually manage the sharing of hereditary cancer risks with family members. Twelve semi-structured interviews explored patients' experiences following completion of genetic counseling. Counselees employed a number of creative strategies to disclose risk, such as making their own information pamphlets or using a relative as an intermediary. Patients highly valued their interactions with genetic healthcare professionals, finding them crucial for support and guidance. Identified gaps in current practices included unclear information about the counseling process and uncertainty about healthcare professionals' roles in disclosure.
ETHICAL PERSPECTIVE
In this paper () we argue for the healthcare professionals duty to inform at-risk relatives whilst recognizing the worth of involving the patient.
We have also surveyed public attitudes on patients’ and healthcare professionals’ (HCPs) ethical and legal duties to inform at-risk relatives (ARRs). Of 1,800 invited, 914 responded (51%). Participants considered a scenario where a patient with hereditary colorectal cancer risk informed siblings but not cousins.
75% felt HCPs had a moral duty to inform cousins; 59% assigned this to the patient.
71% saw ultimate responsibility as HCPs’ and 66% supported a legal obligation for HCPs.
When the patient opposed disclosure, most believed HCPs should inform ARRs despite the patient’s wishes.
RCT
The multicenter randomized controlled trial ( and results in ) was conducted at the cancer genetic clinics in Umeå, Gothenburg, and Lund between 2020 and 2025. Patients invited to the study have an inherited cancer predisposition (pathogenic variants in BRCA1, BRCA2, PALB2, MLH1, MSH2, MSH6, PMS2, Familial breast cancer or Familial colorectal cancer). We found no difference between the two arms giving standard care with family-mediated disclosure (control) vs also offering to send personalized direct letters to at-risk relatives (intervention).
2025
European Journal of Human Genetics Ehrencrona, Hans; Öfverholm, Anna; Hawranek, Carolina; et al.
2024
BMJ Open, BMJ Publishing Group Ltd 2024, Vol. 14, (11) Grill, Kalle; Phillips, Amicia; Numan Hellquist, Barbro; et al.
