Rethinking How We Evaluate the 'Seriousness' of Genetic Conditions

The concept of 'seriousness' in genetic conditions is subject to ongoing debate, reflecting differing perspectives across countries and stakeholders. Traditionally, Japan has assessed the severity of genetic disorders using narrow medical criteria, which has limited access to preimplantation genetic testing (PGT) for monogenic diseases to only a few specific conditions. This restrictive approach contrasts with practices in many other countries, where broader criteria have expanded access significantly.

A notable example highlighting the need to reconsider these assessments is retinoblastoma, a hereditary eye cancer. It was only acknowledged as 'serious' after a six-year advocacy effort by patients and families, underscoring how lived experiences can influence perceptions of severity.

In a recent study conducted during a stakeholder dialogue in Hiroshima, researchers explored how understanding of 'seriousness' evolves through personal testimonies and discussion. They employed a framework by Kleiderman et al., which considers multiple facets of seriousness, including medical, social, and personal dimensions. The study, published in the European Journal of Human Genetics, examined perceptions in Japan, where access to PGT remains limited—only 17 conditions have been approved under strict criteria.

The research involved a two-phase survey, starting with medical explanations about PGT and then sharing real-life stories from patients with hereditary cancers like retinoblastoma and BRCA2 mutations. Before hearing these stories, a significant portion of participants (66%) supported using PGT to prevent hereditary cancer, and nearly 90% believed patients should be informed about these options at diagnosis. Afterward, perceptions shifted: fewer participants viewed PGT primarily as a societal burden, and there was a heightened focus on individual reproductive autonomy.

Participants showed increased support for family planning with PGT, with favorable attitudes rising from 54% to 71%. Researchers emphasize that these findings illustrate how personal narratives influence views on the seriousness of genetic conditions, advocating for the integration of stakeholder experiences into ethical frameworks and policymaking.

Limitations of the study include its small sample size and the focus solely on hereditary cancer patients, which may not capture broader perspectives. Future plans include expanding research to encompass more diverse populations and conditions, aiming to support policies that consider both medical and personal dimensions of genetic disorder severity. Overall, this research emphasizes that assessments of seriousness should incorporate stakeholder lived experiences to better reflect the realities of those affected.

For more details, see the original study: Shizuko Takahashi et al., "Reevaluating 'seriousness' in genetic conditions: balancing clinical criteria and lived experiences," European Journal of Human Genetics (2025).