Global survey of genetic testing methods for familial hypercholesterolaemia: a study and recommendations from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration registry
Authors' conclusion
FH genetic testing practices vary widely across countries surveyed, emphasizing the need for global standardization to enhance accuracy and comparability of FH diagnoses worldwide.
Study context
- Population
- Centres of national lead-investigators in 68 countries of the EAS familial hypercholesterolemia (FH) Studies Collaboration performing FH genetic testing55/68 countries (81%)
- Participants
- 55 participants
- Outcome
- Referral criteria, assay methodologies, target genes and pathogenicity interpretation methods for FH genetic testing
Methodological detailsinternational survey
- International survey
Main finding
As reported in the abstract
- DLCN scores most common referral reason, adults
- 72%
- DLCN scores most common referral reason, children
- 57%
- Simon Broome criteria (high-income countries only), adults / children
- 7% / 12%
- MEDPED criteria (high-income countries only), adults / children
- 2% / 2%
- Testing methods differed for index vs non-index cases
- p <0.001
- Next-generation sequencing (NGS) predominant for index cases
- 62%
- Sanger sequencing favoured for non-index cases
- 71%
- No difference in techniques high- vs non-high-income countries, index cases
- p=0.74
- No difference in techniques high- vs non-high-income countries, non-index cases
- p=0.49
- Copy-number variants (CNVs) assessed by centres
- 65%
- CNV analysis integrated into NGS platforms
- 86%
- CNV analysis by MLPA or microarrays
- 14%
- Genes screened: LDLR
- 100%
- Genes screened: APOB
- 97%
- Genes screened: PCSK9
- 95%
- Pathogenicity interpretation in reports (largely ACMG guidelines)
- 96%
Observational data: associations, not effects.
Original publication
Global survey of genetic testing methods for familial hypercholesterolaemia: a study and recommendations from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration registry. Eur J Prev Cardiol. Published 14 May 2026. doi:10.
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