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Agios Pharmaceuticals, PerkinElmer Partner on Hereditary Anemia Genetic Testing Program

NEW YORK – Agios Pharmaceuticals said on Monday that it has partnered with PerkinElmer Genomics on a genetic testing program for patients with suspected hereditary anemias.

Testing will be performed using a next-generation sequencing-based panel comprising more than 50 genes and disorders known to cause hereditary anemias, such as pyruvate kinase deficiency.

Agios and PerkinElmer Genomics launched the Anemia ID program based on feedback from patients, advocates, and physicians on the need to improve diagnosis to inform disease management decisions. Physicians will be able to order a test kit from PerkinElmer Genomics and collect a single blood or saliva sample from the patient. PerkinElmer Genomics will perform a molecular analysis and provide the clinical interpretation.

Agios noted that genetic testing alone cannot provide a definitive diagnosis, and the Anemia ID test should be used with other clinical data or testing to determine the underlying cause of a patient's anemia. The Anemia ID program is to confirm the underlying cause of a patient's hereditary anemia, support the development of a management plan, inform genetic counseling discussions and enable appropriate treatments or clinical trials, Agios said.

Anemia ID will be free to eligible patients based on the program's terms and conditions.

"Differentiating among hereditary anemias is extremely challenging, given the wide range of disorders and unspecified or overlapping phenotypes," Geetha Puthenveetil, a pediatric hematologist at Children's Hospital of Orange County, said in a statement. "Having a specific diagnosis is extremely helpful, allowing us to tailor the treatment and management approach to the particular anemia. Genetic testing, such as the Anemia ID program, is one of the most useful tools we can employ when treating patients with hereditary anemias."