Streamlined genetic test for familial hypercholesterolemia offers cost-effective and scalable solution

A newly developed multiplex primer-based amplicon sequencing method offers a faster, more scalable, and cost-effective approach for genetic testing in familial hypercholesterolemia (FH) patients, according to a study.

Although genetic testing of the LDLR, APOB, and PCSK9 genes can identify variants in most clinically diagnosed patients, traditional sequencing methods face challenges related to time, cost, and scalability. Additionally, pharmacogenomic variants can affect how patients respond to statins.

To address these issues, researchers developed a multiplex primer-based amplicon sequencing method for more efficient and affordable FH genetic testing. This new approach targets exons of the LDLR, APOB, and PCSK9 genes, along with key pharmacogenomic variants linked to statin side effects.

In their study, the researchers validated this method using known samples and tested it on 12 patients suspected of having FH. The results showed no amplicon dropouts, with over 100× coverage for each target area. They successfully detected known variants and identified new ones in several patients, some of whom may require adjusted statin doses based on their pharmacogenomic profiles.

This method offers significant improvements in reducing the time (about 3 hours) and cost (under $50) of FH genetic testing, making it a more scalable and practical option for broader clinical use.

Reference
Imran M, Arvinden VR, Mehanathan PB, et al. A Rapid and Scalable Multiplex PCR-Based Next-Generation Amplicon Sequencing Method for Familial Hypercholesterolemia Genetic Screening. J Appl Lab Med. 2024;jfae089. doi: 10.1093/jalm/jfae089. Epub ahead of print. PMID: 39140510.