Expectations, concerns, and attitudes regarding whole-genome sequencing studies: a survey of cancer patients, families, and the public in Japan

Abstract

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, 5968 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.

A conceptual analysis of public opinion regarding genome research in Japan

“…Still, another study by Hishiyama et al (2019) reported that 45% of the respondents knew the term genetic information . Our fourth finding is that awareness of another term that has been increasingly incorporated into GR— whole-genome sequencing ( WGS )—seemed to be relatively low among the respondents (29%, the sum of know about it and have heard of it ), but recognition of the WGS study was relatively higher for the patient (43%) and family members of the patient (39%) category groups ( Ri et al, 2022 ).…”

“…Six of the eight surveys included a certain aspect of GF ( Middleton et al, 2020 ) and GL as components of awareness ( Ikeda, 2008 ; Ishiyama et al, 2008 ; Hishiyama et al, 2019 ; Ri et al, 2022 ; Muto et al, 2023 ). Regarding GF, Middleton et al (2020) reported that 88% of Japanese respondents answered not familiar with DNA, genetics, or genomics .…”

“…Five out of eight surveys explored awareness of social benefits and concerns ( Ikeda, 2008 ; Kobayashi and Satoh, 2009 ; Hishiyama et al, 2019 ; Ri et al, 2022 ; Muto et al, 2023 ). Regarding social benefits, in four papers, 38%–85% of the Japanese public perceived the usefulness of GR positively.…”

“…Past studies associated with healthy individuals who directly benefited from donations and with patients or participants in a particular project were excluded from the primary focus of this paper. In this study, we identify and analyze eight key Japanese papers related to GR ( Ikeda, 2008 ; Ishiyama et al, 2008 ; Kobayashi and Satoh, 2009 ; Okita et al, 2018 ; Hishiyama et al, 2019 ; Middleton et al, 2020 ; Ri et al, 2022 ; Muto et al, 2023 ). To address the diversities of past Japanese studies on GR, this paper adopts a new theoretical approach—the conceptual framework of cultural transmission.…”

Deep Learning Model for Tumor Type Prediction using Targeted Clinical Genomic Sequencing Data

“…Even as the associated cost decreases, the infrastructure required for clinical tumor WGS analysis and reporting does not yet exist. As such, many WGS-based classifiers are derived from small datasets across limited cancer types, likely not representative of true cancer type frequencies seen in larger patient populations, and therefore rendering a significant proportion of cancer patients unpredictable within the context of the model [14][15][16] . The expected performance of these models on excluded cancer types (i.e.…”