At-home Testing Kit for Alpha-1 Deficiency Wins FDA Clearance

AlphaID can test for the 14 most common genetic mutations linked with alpha-1

Somi Igbene, PhD avatar

by Somi Igbene, PhD |

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AlphaID At Home, a screening kit to detect alpha-1-antitrypsin deficiency (alpha-1), has been cleared by the U.S. Food and Drug Administration (FDA).

The free, direct-to-consumer screening kit developed by Grifols will enable adults in the U.S. to determine their genetic risk of developing lung or liver disease linked to alpha-1, such as chronic obstructive pulmonary disease (COPD).

“Grifols is very pleased that the FDA cleared the AlphaID At Home service, reflecting the robustness and accuracy of the testing platform as well as the value it will provide in helping people detect if they are at risk for alpha-1,” Antonio Martinez, president of Grifols Diagnostic, said in a press release.

COPD is an inflammatory lung disease caused by long-term exposure to irritants, such as cigarette smoke, air pollution, and chemical gases. In a small percentage of cases, COPD is inherited and results from a deficiency in alpha-1-antitrypsin (AAT), a protein that protects the lungs from damage caused by infection and irritants.

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People with alpha-1 lung disease have two abnormal genes, the Z and S genes, most commonly. Signs of lung disease in people with alpha-1 include shortness of breath, wheezing, chronic cough and sputum, recurring chest colds or pneumonia, year-round allergies, and bronchiectasis. More than 90% of people with alpha-1 are believed to be undiagnosed.

“We wholeheartedly support initiatives and innovations that contribute to the diagnosis of alpha-1,” Scott Santarella, president and CEO of the Alpha-1 Foundation said. “Many COPD patients don’t know their condition could be caused by alpha-1 because its symptoms are similar to those of COPD or asthma.”

Early diagnosis of alpha-1 is important because quitting smoking and early treatment are vital to slow disease progression. The condition can’t be diagnosed by symptoms or medical examination alone, however. A blood test must be done to confirm its presence.

Many COPD patients don’t know their condition could be caused by alpha-1 because its symptoms are similar to those of COPD or asthma.

AlphaID At Home enables people to screen for the 14 most common genetic mutations associated with alpha-1, including the S, Z, F, I, rare, and null alleles, without a blood test. Alleles are alternative forms of the same gene.

Screening involves collecting a saliva sample using the AlphaID At Home test kit and sending it to a certified lab for processing. Results are available within a few weeks through a secure online portal. Those who test are encouraged to share results with their physician, who will diagnose the condition and discuss potential treatment options.

The kit is relatively easy to use and understand. A user comprehension study of 525 demographically diverse adults in the U.S. showed users understood at least 90% of the service reports.

The Alpha-1 Foundation suggests those who meet the following criteria consider screening:

  • Relatives of anyone diagnosed with alpha-1
  • Anyone with COPD (emphysema and/or chronic bronchitis), regardless of age or ethnicity
  • Those with chronic liver disease of unknown origin, or unexplained bronchiectasis

AlphaID At Home will be available without a medical prescription in the second quarter of 2023.