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Table 4 Participants’ motivations to receive or not to receive genomic sequencing SFs according to the disease or the type of SFs

From: Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

Disease/ type of SFs Reasons or motivations to receive SFs Reasons or motivations to refuse the disclosure of SFs
Hypercholes-terolemia -To make informed decisions to protect or improve their health through preventive and therapeutic measures
-To be able to raise awareness among their families
-Availability of treatments
-Not to aggravate cancer-related stress
-Not a priority in the context of progressive cancer
-Preference to receive such information after recovering from their cancer
Alzheimer’s disease -To know whether there is a familial genetic predisposition to the disease
-To be able to warn family members, ensure their support and understanding if, one day, they start having symptoms suggestive of Alzheimer’s disease
-To get medical attention and supportive treatment earlier in the course of the disease, which hopefully could improve their survival
-To be able to plan their career, live differently, enjoy life, leave memories, mentally prepare themselves and their relatives, make arrangements, and share wishes for their end of life (Table S1, Supplementary Quote 1)
-To be able to take preventive or mitigating measures
-Absence of treatment or prevention
-Lack of relevance for a cancer patient
-Potential detrimental psychological impacts
Wilson’s disease -To make informed decisions regarding reproduction
-To help fast-track their children’s care in the case of an unexplained or hard-to-explain illness
- To help orientate prospective familial genetic investigations and preventive or therapeutic measures in children (Table S1, Supplementary Quotes 2 & 3)
- To be able to raise awareness and discuss the predisposition to Wilson’s disease with their families and healthcare professionals
-Fear that their children do not obtain adequate insurance coverage
Cystic fibrosis - To be in full knowledge and ready psychologically
- To be able to protect or warn their children
- To be able to link children’s eventual symptoms to the disease
- To make informed decisions about reproduction (Table S1, Supplementary Quote 4)
- To inquire whether their children would be able to get insurance coverage
- Absence of treatment
- Not to overwhelm as already affected by cancer
- To keep living without having to worry about a predisposition to another disease
- Not willing to be questioning themselves about whether to have children given that deciding not to have children would not be compatible with natural selection
VUS - To benefit from related research and improve their survival in case they develop a related medical condition
- To participate in research related to such variant
- Potential starting point for familial genetic investigations and development of new treatment
- Potential necessity for a specific follow-up for carriers of such variant
- Preference for living while being aware of such variant even though more stressful
- Less stressful, and easier to live while being aware of such variant
- To be able to better understand the development of a disease related to such variant
- To avoid missing on a finding that might become clinically relevant in the future
- To contribute to knowledge advances and help the next generations (Table S1, Supplementary Quote 5)
-Too stressful and concerning to live with
-The very nature of the VUS (absence of known health implications and therapeutic or preventive strategies) makes the communication of its existence irrelevant
- Preference for that information to be documented in the medical chart and to be contacted once new data are available