PreventionGenetics Assumes the Management of Sponsored Genetic Testing Program for Three Rare Genetic Diseases: Acute Hepatic Porphyria, Primary Hyperoxaluria Type 1 & Hereditary ATTR Amyloidosis

– The Alnylam Act^® program is a genetic testing initiative designed to enable improved patient diagnosis of three rare, devastating, and life-threatening genetic diseases –

– Through the Alnylam Act^® program, individuals and healthcare providers can now access no-cost, expedited genetic testing and counseling for those suspected to have one of these diseases –

MARSHFIELD, Wis.--(BUSINESS WIRE)--PreventionGenetics, a wholly owned subsidiary of Exact Sciences Corp., announced that it is the new administrator of Alnylam Act,® a sponsored genetic testing program by Alnylam Pharmaceuticals, Inc.

The program, called Alnylam Act^®, provides genetic testing for the diagnosis of acute hepatic porphyria, primary hyperoxaluria type 1 (PH1), and hereditary ATTR (hATTR) amyloidosis.

Along with genetic testing, the program includes access to pre and post-test genetic counseling services by Genome Medical, a third-party genetic counseling service.

"Getting the correct diagnosis can be the first step to decreasing the burden of these extremely challenging genetic conditions. Through genetic testing, healthcare providers and patients receive the diagnostic clarity they need to take the next steps in treating the condition,” says Tony Krentz, PhD, VP, Laboratory Operations at PreventionGenetics. “We’re proud to be part of Alnylam Act^® program and to provide this essential service to those facing these rare and life-threatening diseases.”

The Alnylam Act^® program offers no-cost, confidential genetic testing services to those who meet the program’s clinical and demographic criteria. All three tests are performed using next-generation sequencing (NGS) with additional Sanger sequencing as necessary. Learn more about the program criteria and the specific genes being tested for each disease:

• Alnylam Act^® Acute Hepatic Porphyria Sponsored Testing Program
• Alnylam Act^® Primary Hyperoxaluria Type 1 Sponsored Testing Program
• Alnylam Act^® hATTR Amyloidosis Sponsored Testing Program

Genome Medical genetic counseling services are available via provider referral to explain testing, discuss results, and offer support to participants and their families.

Through the Alnylam Act^® program, healthcare providers and patients receive the keys to a correct diagnosis, which can provide confidence and clarity about the next steps in their treatment plan. Genetic counseling offers another layer of support for patients working to understand their rare genetic condition.

About Acute Hepatic Porphyria (AHP)

AHP is a family of rare, genetic diseases characterized by the accumulation of heme metabolites in the liver due to a defect of one of the enzymes involved with heme metabolism. Symptoms can include severe and potentially life-threatening "attacks" that impact the gastrointestinal and neurological systems. Some patients experience chronic debilitating symptoms that can negatively impact daily functioning and quality of life.

The four subtypes of AHP depend on which enzyme is affected in the heme biogenesis pathway: acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and ALAD-deficiency porphyria.

About Primary Hyperoxaluria Type 1 (PH1)

PH1 is a potentially life-threatening progressive genetic disease characterized by the accumulation of oxalate in the kidney due to an enzyme deficiency in the liver. Calcium oxalate crystals are insoluble and can lead to serious disease manifestations, including recurrent kidney stones, nephrocalcinosis, progressive renal failure, and multiorgan damage from systemic oxalosis once the disease advances. One study estimated that 57% of diagnosed PH1 patients had end-stage kidney disease by age 40. (1-3)

About Hereditary ATTR (hATTR) Amyloidosis

hATTR amyloidosis is an inherited, rapidly progressive, debilitating, and fatal disease characterized by the accumulation of a misfolded protein. hATTR amyloidosis is a multisystemic disease with a heterogeneous clinical presentation that includes sensory and motor neuropathy, autonomic neuropathy (e.g., diarrhea, sexual dysfunction, orthostatic hypotension), and cardiomyopathy. hATTR amyloidosis can lead to significant morbidity, disability, and mortality.

About PreventionGenetics

Founded in 2004 and located in Marshfield, Wisconsin, PreventionGenetics, a wholly owned subsidiary of Exact Sciences Corp., is a Clinical Laboratory Improvement Amendments (CLIA) and International Organization for Standardization (ISO) 15189:2012 accredited laboratory. PreventionGenetics delivers clinical genetic testing of the highest quality at fair prices with exemplary service to people around the world. PreventionGenetics provides tests for nearly all clinically relevant genes, including the powerful and comprehensive whole genome sequencing test, PGnome® and whole exome sequencing test, PGxome®.

PGnome and PGxome are registered trademarks of PreventionGenetics LLC, a wholly-owned subsidiary of Exact Sciences Corporation. Alnylam Act is a registered trademark of Alnylam Pharmaceuticals, Inc. All third-party marks are the property of their respective owners.

References:

1. Hoppe B. Nat Rev Nephrol. 2012;8(8):467-475.
2. Milliner DS, Harris PC, Cogal AG, Lieske JC. https://www.ncbi.nlm.nih.gov/books/NBK1283. Updated November 30, 2017. Accessed January 3, 2022.
3. Cochat P, Rumsby G. N Engl J Med. 2013;369(7):649-658.