Grifols’ test kit to detect alpha-1-antitrypsin deficiency (alpha-1), called AlphaID At Home, is now available for consumers in the U.S., the company announced.

The U.S. Food and Drug Administration (FDA) cleared the kit, which doesn’t require a medical prescription, last year, letting adults living in the U.S. assess their genetic risk of developing chronic obstructive pulmonary disease (COPD), or other lung or liver diseases linked to alpha-1.

The test can be ordered free of charge via a secure HIPAA-compliant online portal.

“Given the fact that it can take several years until a patient with alpha-1 is properly diagnosed, AlphaID At Home can indicate someone’s risk for alpha-1 in a matter of weeks,” Antonio Martínez, president of Grifols Diagnostic, said in a company press release. “It’s a patient-friendly way to make a sophisticated genetic test simple and understandable.”

COPD most often arises after long-term exposure to irritants, such as air pollution, chemical gases, and cigarette smoke. In rare cases, it’s genetically inherited due to low levels of alpha-1-antitrypsin (AAT), a protein that shields the lungs from damage caused by microbes and environmental factors. People with alpha-1 lung disease most often carry mutations in the Z and S genes.

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An illustration shows a close-up view of damaged and inflamed lungs.

Importance of early alpha-1 diagnosis

More than 90% of people with alpha-1 are thought to be undiagnosed, according to Grifols. The fact that the condition typically requires a specialized blood test for a diagnosis and can’t be identified by an examination or symptoms alone is thought to contribute to this.

An early diagnosis is essential to access treatment and halt factors that contribute to disease progression, including smoking.

“Our hope is that through AlphaID At Home we can increase awareness about alpha-1 and accelerate diagnosis through the ease of at-home testing. This important screening service further strengthens Grifols’ firm commitment to the alpha-1 community,” said Pia D’Urbano, president of Grifols Biopharma.

The kit is designed to detect the 14 most common mutations linked to alpha-1 using saliva instead of blood. After a sample is collected, it’s sent to a certified lab for processing. Test results are available in a secure online portal within a few weeks. Grifols advises those who take the test to share the results with their physician, who can make a definite diagnosis and discuss the next steps.

According to the Alpha-1 Foundation, people who have a relative with alpha-1 disease; people with COPD, regardless of age or ethnicity; and people with chronic liver disease or bronchiectasis, for which the cause remains unknown, should be screened.

“We wholeheartedly support initiatives and innovations that contribute to the diagnosis of alpha-1. As leaders in alpha-1 testing, Grifols is doubling down on its commitment to the alpha-1 community by making it easier and more efficient to get diagnosed,” said Scott Santarella, president and CEO of the Alpha-1 Foundation. “This is incredible news for our community and will help patients go on to lead healthier lives.”

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