Cheek swab to screen for the most common genetic form of COPD

Nov. 11, 2019

Grifols, a global producer of plasma-derived medicines has introduced AlphaID, a new, simple cheek swab that can be used by physicians to screen patients with chronic obstructive pulmonary disease (COPD) for alpha-1 antitrypsin deficiency (Alpha-1), a rare, life-threatening genetic condition.

Now available for distribution in the U.S., the AlphaID cheek swab, which is completely free from ordering to results, is a simple way for physicians and healthcare providers to obtain a sufficient oral sample for Alpha-1 screening, taking only seconds to collect.

AlphaID utilizes an FDA-approved genotyping assay to screen for the 14 most prevalently reported genetic mutations associated with Alpha-1, including the S, Z, F, I alleles, as well as rare and null alleles, helping detect patients who are at risk for this treatable condition. AlphaID™ provides personal, comprehensive results within a week from the time the sample is sent in for screening.

"AlphaID™ is an innovative, convenient way for patients to be screened for Alpha-1, which could mean earlier diagnosis and management of COPD," said Angela Davis, M.D., Global Medical Director, Medical Affairs and Scientific Intelligence, Grifols. "For more than 20 years, Grifols has been a leader in Alpha-1 screening and is dedicated to helping patients understand their condition and make informed treatment decisions."

For patients who are found to have an at-risk genotype per the cheek swab results, Grifols offers an additional free test, known as AlphaID™ CONFIRM, to verify the patient's genotype and alpha-1 antitrypsin blood level to complete the diagnosis. AlphaID™ CONFIRM is a simple fingerstick blood collection kit, providing definitive and accurate results to patients who test positive with AlphaID™.

"Alpha-1 antitrypsin is a protective protein that plays a critical role in safeguarding the lungs, making it important to screen COPD patients for a deficiency," said Dr. Robert Sandhaus, Professor of Medicine, Director, Alpha-1 Program, National Jewish Health. "Severe Alpha-1 is estimated to affect over 100,000 people in the U.S. alone, although more than 90% of individuals remain undiagnosed, even though a simple screening test will quickly detect the condition."

AlphaID was developed jointly by Grifols' Bioscience and Diagnostic divisions, including the company's Progenika unit, a leader in the diagnosis of genetic complex diseases.  

November marks National COPD Awareness Month, including COPD and genetic COPD due to Alpha-1. COPD is a condition that describes multiple lung diseases such as emphysema and chronic bronchitis. Alpha-1 is often not diagnosed because its symptoms are similar to COPD and asthma.

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