Team publishes correspondence article reevaluating ‘seriousness’ in genetic conditions~Examines how patient voices impact decision-making~
Team publishes correspondence article reevaluating ‘seriousness’ in genetic conditions Examines how patient voices impact decision-making A team of three Japanese researchers has conducted a survey of stakeholders to examine how patient voices impact decisions related to genetic testing for hereditary cancers. These stakeholders included patients, healthcare professionals, and ethicists attending a workshop in Hiroshima in early 2025. The correspondence is published in the European Journal of Human Genetics on March 15, 2025. There are differences of opinion in how to assess “seriousness” in genetic conditions. “In Japan, the seriousness of genetic disorders has traditionally been assessed using narrow medical criteria, limiting access to preimplantation genetic testing for monogenic diseases to only a small number of conditions. However, cases like retinoblastoma—which was only recognized as ‘serious’ after six years of patient advocacy—underscore the urgent need to incorporate sta

