Family communication and results disclosure after germline sequencing: A mixed methods study

Area of Science:

• Genetics
• Genomic Medicine
• Cancer Genetics

Background:

• Germline genome sequencing (GS) results present unique communication challenges compared to targeted genetic testing.
• Complex GS results necessitate effective risk communication to relatives.
• Ensuring patient health literacy is crucial for equitable interpretation and communication of genetic information.

Purpose of the Study:

• To investigate cancer patients' perceptions of the importance of disclosing germline genome sequencing results to family members.
• To identify predictors associated with patients' views on result disclosure.
• To explore patients' perspectives on communicating genetic information within their families.

Main Methods:

• An explanatory-sequential, cross-sectional mixed-methods design was employed.
• Quantitative data were collected via questionnaires from 246 participants.
• Qualitative data were gathered through semi-structured interviews with 20 participants, analyzed thematically.

Main Results:

• A majority of patients considered GS results as family information (59.3%) and believed disclosure was important (62.7%).
• Disclosure intentions were higher for nuclear families (77.4%) than extended families (42.7%).
• Family communication scores and education level significantly predicted the perceived importance of result disclosure.

Conclusions:

• Germline genome sequencing (GS) communication is complex and influenced by health literacy and family dynamics.
• Patients desire clear, interpretable information to facilitate family communication.
• Healthcare professionals play a vital role in supporting patients to communicate GS results effectively.