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Akcea, Ambry Genetics to introduce genetic testing programme, hATTR Compass

Thursday, June 14, 2018, 16:00 Hrs  [IST]

Akcea Therapeutics, Inc, an affiliate of Ionis Pharmaceuticals, Inc., and Ambry Genetics Corporation, a Konica Minolta company, has announced the launch of hATTR Compass, a no-cost, confidential genetic testing and genetic counseling programme for people with suspected hereditary ATTR (hATTR) amyloidosis.

Akcea and Ambry created the hATTR Compass programme to empower people with accurate genetic information so they can make informed decisions about their healthcare. Through hATTR Compass, Ambry’s genetic testing will allow people to learn if they carry any of the TTR gene mutations associated with hATTR amyloidosis. Confidential genetic counseling will be provided through partnership with PWNHealth, a virtual care company that enables confidential access to diagnostic testing, treatment and professional guidance. Genetic testing results will only be provided to people and their healthcare providers to ensure the protection of confidential patient information.

“Akcea is proud to bring this empowering service to people who may suspect that they have hATTR amyloidosis and their families at no-cost. We have developed a programme that quickly and conveniently provides those people and their healthcare professionals with thorough genetic results to help with diagnosis and treatment decisions,” said Sarah Boyce, president at Akcea Therapeutics. “Under this programme, people will receive rapid genetic test results and supportive, confidential, genetic counseling to help interpret genetic test results and what those results mean for themselves and their family.”

hATTR Compass screens for up to 80 genes that cause hereditary polyneuropathies and up to 85 genes associated with hereditary cardiomyopathies, including hATTR amyloidosis. To be eligible for hATTR Compass, people must be in the US and Canada, 18 years and older, and are either experiencing red flag symptoms of hATTR amyloidosis or are aware of a family history of hATTR amyloidosis, including polyneuropathies and cardiomyopathies. hATTR Compass will provide both participants and healthcare professionals with precise and reliable results through Ambry’s trusted and comprehensive genetic testing.

Currently the road to diagnosis can be long and challenging for people suffering from hATTR amyloidosis. It can take upwards of five years and visits to multiple physicians across many specialties, before people finally receive an accurate diagnosis. The goal of the hATTR Compass programme is to help accelerate or confirm the diagnosis of hATTR amyloidosis while providing support and resources to people and healthcare professionals throughout the genetic testing process.

“We are very excited to partner with Akcea to bring our comprehensive genetic testing to a patient population desperately in need of finding answers,” stated Brigette Tippin Davis, Ph.D., FACMG, VP, research & development at Ambry Genetics Corporation. “It is a privilege to leverage our advanced genomic profiling technology to assist in accelerating the diagnosis of individuals with hereditary ATTR amyloidosis so that they can work with their healthcare professionals toward earlier diagnosis to better manage their disease.”

“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,” said Isabelle Lousada, President and CEO of the Amyloidosis Research Consortium.

Akcea has also partnered with Backpack Health to provide an additional resource for people and their families. As part of hATTR Compass, Backpack Health, a mobile and web-based app that helps people keep track of their symptoms, procedures, diagnostic tests and ongoing treatment for hATTR amyloidosis, will be available at no-cost for people. The tool also makes it easy for individuals and families navigating the hATTR amyloidosis journey to share important medical information with healthcare professionals.

“Our secure, cloud-based platform helps people with hATTR amyloidosis manage health details, care and communication between caregivers and often with multiple healthcare providers,” said Jim Cavan, founder, president and CEO of Backpack Health.  “Now, people will have ready access to diagnostic test results and other personalised health summaries, which is essential to those who need to manage and share that information with others.”

hATTR amyloidosis is a rare, progressive, systemic and fatal hereditary disease caused by the abnormal formation and aggregation of TTR amyloid deposits in various tissues and organs throughout the body, including peripheral nerves, heart, intestinal tract, eyes, kidneys, central nervous system, thyroid and bone marrow.1-6 The progressive accumulation of TTR amyloid deposits in these tissues and organs leads to sensory, motor and autonomic dysfunction often having debilitating effects on multiple aspects of a patient's life. People with hATTR amyloidosis often present with a mixed phenotype and experience overlapping symptoms of polyneuropathy and cardiomyopathy.


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