Evidence map›Paper›PMID 42682145›Full record

ArticleJournal of genetic counseling2026

Understanding Barriers and Motivators of Familial Hypercholesterolemia Genetic Testing: Insights From the Singapore Public.

Dorothy S R Quek, Ruoyu Yin, Frederick H F Chan, Ashna Nastar, Joanne Ngeow, Sharon Pek, Julian Savulescu, Tavintharan Subramaniam, Konstadina Griva

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Dorothy S R QuekLee Kong Chian School of Medicine, Nanyang Technological University, Singapore.ORCID https://orcid.org/0009-0005-0448-4377
Ruoyu YinLee Kong Chian School of Medicine, Nanyang Technological University, Singapore.ORCID https://orcid.org/0000-0002-3008-7608
Frederick H F ChanDepartment of Social Work and Social Administration, The University of Hong Kong, Hong Kong SAR.ORCID https://orcid.org/0000-0002-9905-3422
Ashna NastarDivision of Endocrinology, Alexandra Hospital, Singapore.
Joanne NgeowLee Kong Chian School of Medicine, Nanyang Technological University, Singapore.ORCID https://orcid.org/0000-0003-1558-3627
Sharon PekClinical Research Unit, Khoo Teck Puat Hospital, Singapore.ORCID https://orcid.org/0000-0001-7047-1420
Julian SavulescuUehiro Oxford Institute, University of Oxford, Oxford, UK.
Tavintharan SubramaniamClinical Research Unit, Khoo Teck Puat Hospital, Singapore.ORCID https://orcid.org/0000-0002-5365-8899
Konstadina GrivaLee Kong Chian School of Medicine, Nanyang Technological University, Singapore.ORCID https://orcid.org/0000-0001-8173-5663

Funding

National Research Foundation, Singapore Ministry of Health, National Medical Research Council, Precision Health Research, Singapore MOH-000588-01Social Science Research Council (Singapore), Ministry of Education, Singapore SSRC2023-SSRTG-006STAR2 from Khoo Teck Puat Health Fund STAR22205STAR2 from Khoo Teck Puat Health Fund STAR24205
6 · The paper itself

Abstract

Familial hypercholesterolemia (FH) is a common monogenic disorder associated with elevated low-density lipoprotein cholesterol and premature cardiovascular disease. Despite Singapore's high FH prevalence and the launch of the National FH Genetic Testing Programme in 2025, uptake remains suboptimal. This study aimed to assess public attitudes, perceptions, and willingness to undergo FH genetic testing. A cross-sectional survey of 333 Singaporean adults was conducted. Descriptive and comparative analyses assessed willingness, concerns, and information needs. While 71% of participants expressed some willingness to test, only 25% reported strong intention. Individuals who were 'somewhat willing' exhibited aversion levels similar to those 'unwilling', reflecting ambivalence and a risk of inaction without targeted support. Insurance coverage increased willingness, whereas encouragement from health professionals or family had minimal effect. Participants with high cholesterol were more willing to test than those with normal cholesterol. Key barriers for individuals with normal and high cholesterol included concerns about cost, insurability, data privacy, emotional readiness, and perceived necessity. Information needs varied by willingness level, with those more willing prioritizing practical and logistical details while ambivalent or unwilling participants needed guidance on benefits and costs, post-test pathways, and data protection. Financial subsidies alone are insufficient to maximize uptake. Tailored communication and decision support interventions from healthcare providers addressing psychosocial and information barriers are essential to support effective implementation of national FH genetic testing programs.

Indexed as

Genetic TestingHyperlipoproteinemia Type IIMotivationAdultCross-Sectional StudiesFemaleHumansMaleMiddle AgedSingaporefamilial hypercholesterolemiagenetic testingpublic healthtesting intentionswillingness to test

Identifiers

PMID42682145
PMCPMC13535478

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.