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There are variations of opinion in learn how to assess “seriousness” in genetic circumstances. “In Japan, the seriousness of genetic problems has historically been assessed utilizing slender medical standards, limiting entry to preimplantation genetic testing for monogenic illnesses to solely a small variety of circumstances.
“However, cases like retinoblastoma—which was only recognized as ‘serious’ after six years of patient advocacy—underscore the urgent need to incorporate stakeholder values and lived experiences into these assessments,” stated Shizuko Takahashi, a Analysis Fellow at Nationwide College of Singapore.
Drawing on a framework proposed by Erika Kleiderman and colleagues, the workforce carried out a two-stage survey throughout a stakeholder dialog occasion in Hiroshima in January 2025, exploring how the contributors’ understanding of “seriousness” advanced in response to affected person testimonies and dialogue.
The workforce used the current assessment by Kleiderman and colleagues as a framework for understanding the multifaceted idea of seriousness in genetic circumstances. The brand new research, revealed in a current challenge of the European Journal of Human Genetics, emphasizes the core dimensions and procedural components of seriousness, providing helpful insights into the Japanese context.
Many international locations have expanded entry to preimplantation genetic testing for monogenic problems. Nevertheless, Japan continues to be restrictive, having accepted solely 17 circumstances beneath the strict standards set by the Japanese Society of Obstetrics and Gynecology.
The workforce carried out their survey in two phases, assessing the contributors’ perceptions earlier than and after affected person testimonies. First, a medical geneticist defined the medical standards for preimplantation genetic testing for monogenic problems, remedy choices, and accessible assist assets. The geneticist addressed core dimensions reminiscent of “medical criteria,” “access/availability of treatment,” and “access/availability of support and resources.”
After that first presentation, people with hereditary most cancers—together with sufferers with retinoblastoma and BRCA2 mutations—shared their lived experiences. This juxtaposition of medical data with private narratives allowed contributors to replicate on how “individual and familial lived experiences,” a vital core dimension, affect their perceptions of seriousness.
Earlier than listening to affected person testimonies, 66% of contributors indicated they might contemplate preimplantation genetic testing for monogenic problems if confronted with hereditary most cancers, citing a want to forestall the inheritance of debilitating circumstances. As well as, 89% believed that sufferers ought to be knowledgeable about preimplantation genetic testing for monogenic problems on the time of analysis, highlighting the significance of entry to data.
Nevertheless, the contributors’ views shifted notably after listening to affected person tales.
The proportion of contributors who seen preimplantation genetic testing for monogenic problems primarily as a public well being software geared toward decreasing the burden on society considerably decreased (p = 0.005). As well as, there was an elevated emphasis on particular person reproductive autonomy.
The contributors’ favorable attitudes towards marriage, being pregnant, and household planning with preimplantation genetic testing for monogenic problems rose from 54% pre-testimony to 71% post-testimony. These shifts spotlight how firsthand accounts can recalibrate folks’s concepts about “seriousness.”
“Lived experiences profoundly shape how people understand the ‘seriousness’ of hereditary cancer—and shift perceptions of preimplantation genetic testing for monogenic disorders from a tool of societal burden reduction to one of individual reproductive autonomy,” stated Rie Iizuka, an assistant professor (particular recognition) at Hiroshima College. This underscores the pressing want to incorporate affected person voices in shaping moral frameworks and coverage choices round genetic testing.
The workforce notes that whereas that is the primary research to look at stakeholder views on preimplantation genetic testing for monogenic problems in Japan, it has a few limitations. First, the pattern dimension was comparatively small, and contributors have been drawn from a preimplantation genetic testing for monogenic problems–associated occasion, introducing potential choice bias. Second, the definition of stakeholders on this research was restricted to people affected by hereditary most cancers. This excluded these with different genetic circumstances.
“Future research will seek to include a broader and more diverse participant pool, both within Japan and internationally. Our aim is to provide empirical support for applying Kleiderman et al’s argument—that assessments of the seriousness of genetic conditions should meaningfully incorporate stakeholders’ lived experiences—to the criteria guiding the implementation of preimplantation genetic testing for monogenic disorders,” stated Tsutomu Sawai, a professor in ethics at Hiroshima College.
Extra data:
Shizuko Takahashi et al, Reevaluating ‘seriousness’ in genetic circumstances: balancing medical standards and lived experiences, European Journal of Human Genetics (2025). DOI: 10.1038/s41431-025-01829-6
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