Journal of Human Genetics · 2022 · 11 citations · 11 references
Life SciencesGeneticsOncologyCancer GeneticsGenomicsMedical GeneticsCancer Genome SequencingCancer GenomicsGenome SequencingGermline Cancer PredispositionGermline Variant InterpretationNext-generation Sequencing In OncologyAwarenessGenetic Information CommunicationGenetic Information DisclosureLong-term Treatment ContinuityTreatment Decision-making SupportTumor ProfilingWhole Genome Sequencing Studies
Whole-genome sequencing (WGS) is being used in research and clinical settings in cancer genomics. Studies show that cancer patients generally have positive attitudes toward tumor profiling tests; however, few works revealed their attitudes toward WGS. This study clarifies the expectations, concerns, and result preferences of cancer patients (CPs), family members (FMs) and general adults (GAs) regarding WGS study in Japan. We conducted an anonymous survey with 1204 CPs, 5958 FMs, and 2915 GAs in 2021. Despite low awareness of the WGS studies, CPs had the highest expectations for it. FMs had a higher level of concern than CPs and GAs; feeling anxious by knowing the results, being treated unfavorably if germline findings were detected. Both the FMs and CPs were highly concerned about the protection of genetic information. CPs preferred results with actionability, however, only half preferred to know germline findings. Given the possibility of detecting variants across multidisciplinary diseases and the long-term continuity of WGS research, a system is needed in which study participants can consult and receive decision-making support at any time according to their needs.
11