Genetic Testing Program Expands Detection of Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency (AATD) is a progressive genetic condition, the leading known genetic risk factor for chronic obstructive pulmonary disease (COPD), and a cause of liver disease in both children and adults. Yet despite guideline recommendations for testing, more than 90% of affected individuals are estimated to remain undiagnosed, delaying appropriate clinical management. A new program aims to address this gap by providing no-cost genetic testing and practice-level support to help clinicians implement routine, targeted detection.

AlphaDetect, a detection organization powered and funded by the Alpha-1 Foundation, announced Grifols as an inaugural industry sponsor to accelerate routine, targeted detection of Alpha-1 in patients with liver and/or lung disease. The initiative is aligned with clinical practice guidelines that recommend testing for all individuals with COPD, treatment-resistant asthma, or unexplained liver disease. The collaboration aims to expand access across care settings.

Image: Alpha-1 antitrypsin deficiency (ADD) is a progressive genetic condition, a major inherited risk factor for COPD, and a cause of liver disease in children and adults (Image credit: Adobe Stock)

Under the program, AlphaDetect will provide free genetic testing for Alpha-1 in its proprietary laboratory at no cost to insurance or patients. An engagement team will support healthcare providers, increasing the availability of detection tools and practice-level implementation. The organization will also partner with providers to advance protocols and technologies across healthcare systems to identify at-risk patients quickly and systematically.

Established in 2025 and based in Durham, North Carolina, AlphaDetect operates as a non-profit subsidiary of the Alpha-1 Foundation. The organization’s goal is to identify all individuals genetically at risk by increasing awareness and removing barriers to detection. 

AlphaDetect reports that Alpha-1 remains significantly underdiagnosed and that real-world testing rates fall short of guideline recommendations. Grifols’ involvement is positioned to enhance provider education, broaden detection strategies, and strengthen community-wide collaboration to close the detection gap. 

"Grifols is proud to serve as an inaugural sponsor of AlphaDetect. We are truly excited to join the Alpha-1 Foundation's efforts to increase awareness as well as access to the tools needed for Alpha-1 detection," said Chris Healey, Grifols' Sr. Vice President, North America Affairs & Global Patient Advocacy. "

"More than 1.5 million people have been screened for Alpha-1 through the Grifols testing program that continues today. Given that 90% remain undetected, more remain at risk. Expanding efforts will significantly accelerate detection. Our sponsorship underscores our commitment to patients and their families by expanding access to testing and information to help ensure that no individual with Alpha-1 is left behind," said Healey