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Akcea, Ambry Genetics to Launch Genetic Testing Program for ATTR Amyloidosis

NEW YORK (GenomeWeb) – Ambry Genetics and Ionis Pharmaceuticals affiliate Akcea Therapeutics have launched a new genetic testing program called hATTR Compass, which will provide no-cost, confidential analyses and genetic counseling to people with suspected hereditary ATTR (hATTR) amyloidosis.

Under the new program, Ambry will test individuals for up to 80 genes that cause hereditary polyneuropathies and up to 85 genes associated with hereditary cardiomyopathies, including hATTR amyloidosis. Confidential genetic counseling will be provided through a partnership with virtual care company PWNHealth.

The companies are also providing participants and their families with the mobile app Backpack Health, which allows individuals to keep track of their symptoms, procedures, diagnostic tests, and ongoing treatment, and share this data with their physicians.

To be eligible for hATTR Compass, individuals must be at least 18 years old, live in the US and Canada, and are either experiencing red flag symptoms of hATTR amyloidosis or aware of a family history of hATTR amyloidosis, including polyneuropathies and cardiomyopathies.

Akcea's investigational hATTR drug Tegsedi (inotersen) is currently under review by the US Food and Drug Administration. The therapy is designed to reduce the production of transthyretin, or TTR protein, which builds up as fibrils throughout the body of individuals with the disorder.

By providing free genetic testing, the new effort hopes to accelerate the process of diagnosis of hATTR, which the two firms said can otherwise be long and challenging.

"It is critical that hATTR amyloidosis patients are diagnosed early in the course of their disease. Access to genetic testing combined with well-supported counselling services is vital for symptomatic patients to get an accurate diagnosis, and is an important first step toward getting the care they need," Isabelle Lousada, president and CEO of the Amyloidosis Research Consortium, said in a statement.

A similar no-cost testing program was also launched last year by Invitae and Alnylam Pharmaceuticals, which has been developing its own rival ATTR drug, patisiran.

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