Phosphorus Launches Expanded Dyslipidemia Test with Polygenic Risk Score


Phosphorus, a leader in diagnostic and bioinformatic solutions for clinical Next Generation Sequencing (NGS), announced today, at the National Lipid Association Fall Clinical Lipid Update meeting, the launch of an expanded genetic test for inherited dyslipidemias. Using next generation sequencing, this genetic test targets over 20 genes associated with familial hypercholesterolemia (FH), hypobetalipoproteinemia, familial chylomicronemia, familial hypertriglyceridemia, and disorders of lipid metabolism, helping to more effectively diagnose and treat patients with these severe metabolic conditions.

”Increasing our ability to find out why patients are experiencing certain symptoms not only helps find the right treatment, but can also help to identify at-risk family members,” said Alexander Bisignano, chief executive officer of Phosphorus. “Recent advances in NGS and bioinformatics makes looking at more candidate genes now realistic and cost-effective.”

Dyslipidemias includes a subset of metabolic disorders where patients are unable to properly process cholesterol, triglycerides, and other fatty molecules. An often modifiable precursor to Type II Diabetes, patients with a genetic basis for this disease often require therapeutic intervention to prevent an early-onset cardiovascular event.

Along with improved and expanded ability to diagnose dyslipidemias beyond familial hypercholesterolemia, we have also added genes which may affect a patient’s response or tolerance as it relates to classical statin treatments,” said Mr. Bisignano.

Pharmacogenomics is becoming an increasingly utilized tool in helping to assess the optimal course of treatment in areas such as psychiatry and electrophysiology. Its use as a prognostic indicator of success with statin therapy may help physicians identify patients who might benefit from specialty medications such as molecules which inhibit PCSK9.

Along with the new diagnostic and pharmacogenetic content, Phosphorus is unveiling a new polygenic risk score for diagnosing non-monogenic hypercholesterolemia.

“A significant subset of patients with hypercholesterolemia are not identified to carry mutations with conventional FH screening for mutations in LDLR, PCSK9, and APOB. It has been estimated that as much as 10% of the population that is categorized as mutation-negative FH can be identified by polygenic risk scores," said Oscar Puig, chief scientific officer. "We are looking for physician-scientists to partner with us to refine our algorithms and improve the positive predictive value of our test.”

About Phosphorus

Phosphorus's mission is to improve healthcare by better understanding and harnessing the power of the human genome. Having built the most comprehensive, high-quality, and cost-effective portfolio of genetic tests, Phosphorus is able to increase access and quality of care in the burgeoning field of genomics. Phosphorus currently provides panel-based, constitutional genetic testing in the specialty areas of Fertility, Cardiology, Lipidology, Oncology, Pharmacology, Ophthalmology, Neurology, and Pediatric/Metabolic disorders, while also offering the most advanced Whole Exome Sequencing test covering the most recent understanding of the human genome. Additionally, Phosphorus provides the Elements software platform to enable any laboratory to easily deploy any of the Phosphorus genetic tests on-premise as a local solution. For more information, please visit our website at

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