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Alnylam Expands Genetic Testing Program

This story has been updated from a previous version that incorrectly stated the development status of an Alynlam AHP drug candidate.

NEW YORK (GenomeWeb) – Alnylam Pharmaceuticals announced on Thursday that it has expanded a program that provides no-cost genetic testing for people at risk for certain genetic diseases to include acute hepatic porphyrias (AHPs).

Originally under the program — called Alnylam Act — Alnylam covered the costs of testing patients at risk for hereditary ATTR amyloidosis, a rare life-threatening disease for which the company is developing RNA interference-based treatments.

Alnylam has now expanded the program to also include testing for AHPs, a class of rare, inherited disorders caused by deficiencies in liver enzymes involved in the biosynthesis of heme, a component of hemoglobin. The company has an RNAi drug under Phase III development for AHPs.

Invitae provides patient testing for Alnylam Act, and InformedDNA is providing genetic counseling, which is available only in the US. The genetic test must be ordered by a physician and is available only in the US and Canada.

"We are pleased to have expanded Alnylam Act to include people at risk for or impacted by AHPs, for whom misdiagnoses are common because hallmark symptoms of AHPs are similar to those of other, more common diseases, leading to an average delay in diagnosis of almost 15 years," Pritesh Gandhi, vice president of medical affairs at Alnylam, said in a statement.