“Is it a scam?”: Warning relatives of genetic risk
Serene Ong1, Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore Singapore 1Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore, Singapore
Abstract
For actionable hereditary diseases, early awareness of genetic risk allows the individual to seek early disease prevention or treatment. Disclosure is typically carried out through the patient, but communication to at-risk relatives is inconsistent. Cascade screening programs, where at-risk relatives are systematically identified and invited for testing, have been shown to improve uptake of genetic testing among relatives. However, little is known on the acceptability of notification of genetic risk to relatives by a healthcare provider.
This presentation reports on findings from semi-structured interviews conducted in Singapore between April 2021 to July 2022 on the aforementioned issue. Informants were patients diagnosed with familial hypercholesterolemia (FH), and relatives. FH is an ideal candidate for cascade screening because early intervention can greatly improve health outcomes yet it is underdiagnosed in Singapore. Most informants agreed it was acceptable that a healthcare provider informed relatives on the condition that the patient was involved in the process. Frequent reasons reported for allowing healthcare provider disclosure include the benefit of the information for relatives, and the relatives’ right to know of information that affect them. Informants discussed their preferred involvement from providing consent for their information to be disclosed, to active engagement in the process. Their main concerns revolved around how the information might be perceived by relatives.
This work provides early evidence that healthcare provider involvement in notifying relatives of their genetic risk is generally acceptable to both patients and relatives, and suggestions for how healthcare systems might work with patients in cascade screening programs.
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