Evidence map›Paper›PMID 42420564›Full record

ArticleEuropean journal of human genetics : EJHG2026

Drawing lines: how the public defines "Serious" genetic conditions for reproductive testing.

Shizuko Takahashi, Rie Iizuka, Serene Ong, Tianxiang Lan, Tsutomu Sawai

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Genomics cycle: discover, diagnose, interpret, act.European journal of human genetics : EJHG · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Shizuko TakahashiCentre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. shizuko@nus.edu.sg.ORCID http://orcid.org/0000-0002-8186-0664
Rie IizukaCenter for Collaborative Sciences, Office of Research and Academic-Government-Community Collaboration, Headquarters for Co-creative Future Sciences, Hiroshima University, Hiroshima, Japan.
Serene OngCentre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Tianxiang LanCentre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0001-7661-8307
Tsutomu SawaiCentre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. tstmsw@hiroshima-u.ac.jp.ORCID http://orcid.org/0000-0002-3806-0573

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 24K00039, 24H00813MEXT | JST | Research Institute of Science and Technology for Society (RISTEX) JPMJRS22J4
6 · The paper itself

Abstract

Prior normative and empirical research has identified a gap between how patients and the public conceptualize "serious" conditions eligible for preimplantation genetic testing for monogenic disorders (PGT-M) and how seriousness is defined. Japan represents a highly restrictive regulatory context shaped by its historical experience with eugenics. Although PGT-M has been available since 1998, its use has been tightly limited, with the first birth occurring six years later and approximately 36 conditions approved to date. This study examines how Japanese adults of reproductive age understand "seriousness" in genetic disease and how they view PGT-M in relation to concerns about eugenic selection (inochi no senbetsu, "sorting of lives"). We conducted a cross-sectional online survey of 458 adults aged 18-42 years. Measures included perceived seriousness across clinical parameters (penetrance, survival, daily life impact), willingness to use PGT-M, perceived barriers to access, and attitudes toward eugenic selection. Awareness of PGT-M was low (12%), yet 44% of participants would consider its use. Participants defined seriousness more broadly than current Japanese policy permits: most rated highly penetrant or childhood-lethal conditions as serious, and over half also included conditions associated with mild to moderate functional limitations. Participants distinguished disease prevention from enhancement. Economic burden was the most frequently cited barrier (70%). Many participants who expressed ethical discomfort with eugenic selection nonetheless reported willingness to consider PGT-M. These findings reveal a substantial gap between policy, public reasoning, and reproductive preferences, with implications for European debates on seriousness and proportionality in reproductive genetic testing.

Indexed as

Genetic Diseases, InbornGenetic TestingPreimplantation DiagnosisAdolescentAdultCross-Sectional StudiesEugenicsFemaleHumansJapanMaleYoung Adult

Identifiers

PMID42420564
PMCPMC13634034

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.