# Online Genetic Counseling as a Solution for Unmet Needs in Genetic Medicine: The First Survey in Japan

## TL;DR

This study is the first in Japan to evaluate online genetic counseling, finding it convenient but with challenges like privacy and technical issues.

## Contribution

The first systematic evaluation of online genetic counseling in Japan's healthcare context.

## Key findings

- High satisfaction in both online and in-person genetic counseling groups.
- Online counseling was more convenient but had issues like privacy concerns and technical problems.
- Participants in online counseling were younger and had longer travel times.

## Abstract

The demand for genetic counseling is increasing in Japan owing to rapid advancements in genetic medicine and increased utilization of genetic testing. However, access to genetic counseling remains limited, particularly in rural areas, owing to a shortage of certified professionals. Online genetic counseling (OGC), a form of telemedicine, offers a potential solution to address these disparities. Although OGC is widely practiced in Western countries, its implementation and systemic evaluation in Japan remain limited. To our knowledge, this study represents the first attempt in Japan to systematically assess the effectiveness, challenges, and user satisfaction of OGC compared with in-person genetic counseling (IPGC) in the context of the Japanese health care system.

This cross-sectional, single-center study involved 49 participants (15 OGC, 34 IPGC) who received genetic counseling at the NHO Tokyo Medical Center between July 2020 and January 2025. Participants completed anonymous questionnaires assessing demographic characteristics, satisfaction with counseling, and perceived advantages and disadvantages. Statistical analyses included Mann-Whitney U tests, chi-square tests, and Fisher’s exact tests. Free-text responses were analyzed using conventional content analysis and word cloud visualization.

Overall satisfaction was high in both groups, with all participants selecting “Strongly agree” or “Agree” regarding satisfaction. However, the IPGC group scored significantly higher in counselor introduction, responsiveness, and overall satisfaction. OGC participants had significantly longer travel times and were more likely to be in their 20s-30s. Key advantages of OGC included convenience and accessibility, whereas disadvantages included concerns about privacy and technical issues.

OGC has high potential to improve access to genetic services in Japan, particularly for individuals in remote areas. Despite high satisfaction, challenges such as communication limitations, privacy concerns, and lack of insurance coverage must be addressed. Policy reforms, improved infrastructure, and further large-scale studies are needed to support the widespread implementation of OGC in Japan.