Free genetic testing for AHP offered by Alnylam Act in US, Canada
Program open to eligible patients, aims to reduce barriers in testing access
Alnylam Act, a sponsored genetic testing program developed by Alnylam Pharmaceuticals and now under the management of Preventiongenetics, is offering free services for certain people in the U.S. and Canada suspected of having acute hepatic porphyria (AHP).
Through the program, genetic testing and counseling are offered at no charge to individuals in North America who meet specific eligibility criteria. Genetic counseling is accessible before and after testing through Genome Medical, a third-party genetic counseling service, according to a Preventiongenetics press release.
The overall goal, the company noted, is to reduce barriers in access to such tests, and to help people make more informed decisions about their health. More information on the program for AHP is available in a booklet for patients.
“Through genetic testing, healthcare providers and patients receive the diagnostic clarity they need to take the next steps in treating the condition,” said Tony Krentz, PhD, vice-president of laboratory operations at Preventiongenetics. “We’re proud to be part of [the] Alnylam Act program and to provide this essential service to those facing these rare and life-threatening diseases.”
Free genetic testing is also provided to individuals suspected of having two other rare diseases.
Eligible patients get free genetic testing, counseling through program
Porphyria encompasses a group of conditions caused by genetic mutations that disrupt the production of heme, a molecule essential for oxygen transport. Those mutations ultimately lead to the toxic accumulation of intermediate molecules, called porphyrins and their precursors, in tissues and organs.
Among AHP types of porphyria are those marked by the excessive accumulation of heme intermediates in the liver, particularly porphobilinogen (PBG) and aminolevulinic acid (ALA). AHP symptoms include pain, gastrointestinal problems, and neurological issues that often manifest in the form of acute attacks.
The condition is commonly diagnosed through urine tests that measure PBG, ALA, and porphyrin levels. These tests should ideally be done during or shortly after an attack, which is the point at which the levels of these molecules reach their peak.
Genetic testing may also be done to help confirm the diagnosis or determine the specific type of AHP that a patient has. It may also be useful for family members to know whether they also carry the genetic mutation. Importantly, the testing can be performed regardless of whether or not a patient is experiencing attack symptoms.
Getting the correct diagnosis can be the first step to decreasing the burden of these extremely challenging genetic conditions.
To get access to genetic testing through the Alnylam Act, patients should start by asking their doctor about genetic testing, and provide a sample for testing using a Preventiongenetics sample collection kit.
The test is performed using next-generation sequencing, which allows for the analysis of several genes at once. It can identify different types of genetic alterations, such as mutations or gene copy number variations. If needed, Sanger sequencing may also be used to analyze specific regions within a gene.
The Alnylam Act genetic testing program for AHP includes screening for a panel of 10 genes, including four associated with AHP and six linked to other types of porphyria.
Testing results usually take three to four weeks on average, and are sent directly to the clinician for review.
“Getting the correct diagnosis can be the first step to decreasing the burden of these extremely challenging genetic conditions,” Krentz said.
Genetic counseling is optional and is available both before and after genetic testing. Counselors may explain how testing works, discuss results, and offer support to participants and their families. After genetic testing, counseling may be done in the form of a one-on-one telephone call or an educational video.
The Alnylam Act program also includes genetic testing for hereditary ATTR amyloidosis, a condition caused by the accumulation of transthyretin amyloid fibrils that can affect the peripheral nervous system and heart, and primary hyperoxaluria type 1, a condition affecting the kidneys, bladder, and urinary tract.
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