Global survey of genetic testing methods for familial hypercholesterolemia. A study and recommendations from the EAS FHSC registry.
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Chora Joana Rita, Karungi Irene, Elshorbagy Amany, Stevens Christophe A T, Vallejo-Vaz Antonio J, Dharmayat Kanika I, Abifadel Marianne, Aguilar-Salinas Carlos A, Alhabib Khalid F, Almahmeed Wael, Alnouri Fahad, Alonso Rodrigo, Al-Rasadi Khalid, Al-Sarraf Ahmad, Arca Marcello, Ashaat Engy A, Ashavaid Tester F, Averna Maurizio, Banach Maciej, Becker Marianne, Binder Christoph J, Brunham Liam R, Catapano Alberico L, Corral Pablo, Descamps Olivier S, Drogari Euridiki, Durst Ronen, Ezhov Marat, Groselj Urh, Harada-Shiba Mariko, Holven Kirsten B, Hovingh G Kees, Khovidhunkit Weerapan, Lalic Katarina, Latkovskis Gustavs, Laufs Ulrich, Liberopoulos Evangelos, Lin Jie, März Winfried, Mata Pedro, Matthias Anne Thushara, Miserez André R, Mitchenko Olena, Nawawi Hapizah Mohd, Nordestgaard Børge G, Panayiotou Andrie G, Paragh György, Petrulioniene Zaneta, Postadzhiyan Arman, Reyes Ximena, Sadiq Fouzia, Sahebkar Amirhossein, Santos Raul D, Sawhney J P S, Schunkert Heribert, Shah Swarup A V, Shek Aleksandr B, Soran Handrean, Su Ta-Chen, Subramaniam Tavintharan, Tilney Myra, Tomlinson Brian, Truong Thanh Huong, Tybjærg-Hansen Anne, Viigimaa Margus, Vohnout Branislav, Watts Gerald F, Yamashita Shizuya, Ray Kausik K, Raal Frederick J, Humphries Steve E, Freiberger Tomas, Bourbon Mafalda
Аннотация
METHODS: A survey was distributed to national lead-investigators (NLIs) of 68 countries in the FH-Studies Collaboration, assessing referral criteria, assay methodologies, target genes, and pathogenicity interpretation methods.
RESULTS: NLIs from centres in 55/68 countries (81%) responded, spanning Africa (N=2), Americas (N=6), Asia (N=20), Europe (N=26), and Oceania (N=1). DLCN scores were the most common reason for referral to genetic testing (adults:72%; children:57%). Simon Broome and MEDPED criteria were reported only by centres from high-income countries (adults: 7% and 2%; children: 12% and 2%). Methods for testing in index versus non-index cases were significantly different (p <0.001). Next-generation sequencing (NGS) was the predominant assay method for index cases (62%), while Sanger sequencing was favoured for non-index (71%). However, these testing techniques did not differ between centres from high- and non-high-income countries for index cases (p=0.74) and non-index cases (p=0.49). Copy-number variants (CNVs) were assessed by 65% of centres, with most integrating CNV analysis into NGS platforms (86%) and others (14%) using multiplex ligation-dependent probe-amplification (MLPA) or microarrays. Screening encompassed LDLR (100%), APOB (97%), PCSK9 (95%), and other genes. Most centres (96%) incorporated pathogenicity interpretation into their reports, adhering largely to American College of Medical Genetics and Genomics guidelines.
CONCLUSIONS: FH genetic testing practices vary widely across countries surveyed, emphasizing the need for global standardization to enhance accuracy and comparability of FH diagnoses worldwide. We suggest that genetic testing should include the three FH-causing genes and ideally the five associated/phenocopy genes.