SeraCare Life Sciences, a manufacturer and partner to global in vitro diagnostics manufacturers and clinical laboratories, is announcing the launch of the industry's first multiplexed reference material for inherited disease testing by next-generation sequencing (NGS) at the 2016 ASHG Annual Meeting in Vancouver.

 The Seraseq Inherited Cardiomyopathy Reference Material was developed in collaboration with Birgit Funke, PhD, FACMG, Director of Clinical Research and Development at the Partners HealthCare Laboratory for Molecular Medicine (LMM), capitalizing on her expertise in genetic testing for hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic cardiovascular disease that is characterized by unusual thickening of the heart muscle which can lead to sudden cardiac failure or abnormal heart rhythms (arrhythmias).

HCM represents a class of disorders where the combination of disease prevalence and genetic heterogeneity (resulting in the need to sequence many genes) has led to the rapid adoption of NGS-based gene panels. 

As targeted inherited disease panels continue to expand, there is growing demand for reference materials that cover a broad range of not only prevalent pathogenic variants, but also difficult-to-detect variants (such as large insertion/deletions) to expedite test development, perform comprehensive analytical validation, as well as to monitor routine assay performance.

However, the traditional practice of using genomic reference materials (e.g. NA12878) and remnant patient samples that cover variants of interest can pose challenges for diagnostic laboratories as informative patient samples are often not publicly available and getting access to  adequate numbers of samples can end up being time consuming and/or costly.

Creating multiplexed reference samples that are tailored to specific disorders fills this void, especially in an environment of growing regulatory oversight.

The Seraseq Cardiomyopathy Reference Material combines ten common pathogenic and/or technically challenging variants in a single reference sample. The variants were chosen based on a careful review of clinical sequencing data obtained over ten years at LMM.

Further, the final product configuration was determined based on proof-of-concept evaluation of two different design concepts and performance that was comparable to patient-derived data. This product combines HCM variants in a well-characterized genomic background at a 50% target allele frequency that can be used for assay development, analytical validation, or routine quality control. 

"We are very excited to have developed, in collaboration with Dr. Birgit Funke of LMM, the first-of-a-kind multiplexed reference material for hypertrophic cardiomyopathy to expedite the adoption and accurate use of NGS-based inherited disease panels," said Russell Garlick, PhD, Chief Scientific Officer at SeraCare.

Partners HealthCare is an integrated health system founded by Brigham and Women's Hospital and Massachusetts General Hospital.