Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

AlphaID At Home Provides Accessible, Targeted Screening for Alpha-1 Antitrypsin Deficiency (AATD)

An estimated 16 million Americans are living with chronic obstructive pulmonary disease (COPD). COPD is an umbrella term: a group of conditions that obstruct airflow and cause inflammation. These include chronic bronchitis, emphysema, and genetic COPD, also known as alpha-1 antitrypsin deficiency (AATD). While it is accepted that there is a genetic susceptibility for COPD that involves multiple genes along with environmental factors, AATD is a specific cause of genetic COPD and particularly of pulmonary emphysema.

Currently, AATD is the most common genetic risk factor for COPD. Yet a lack of awareness means that many people with COPD don’t even know to get screened for their genetic risk. AATD affects 1 in every 2,500 people. But doctors believe that 90% of these people remain undiagnosed. Grifols Diagnostic’s President Dr. Antonio Martínez says:

“There are many different risk factors for COPD, including smoking or older age. But genetics needs to be a larger part of the conversation. Patients don’t think to ask for genetic tests and doctors aren’t as aware of the genetic components.”

While there is no cure, receiving a diagnosis can be helpful in starting treatment and managing symptoms, says Dr. Martínez:

“The good news is that treatments exist. If we can identify people within the COPD community whose disease has genetic underpinnings, we can treat them. That is why improving the diagnostic process is necessary.”

This is just what Grifols, a global leader in plasma-derived medicines and innovative diagnostic solutions, is looking to do. In May 2023, Grifols launched the AlphaID At Home Genetic Health Risk Service.

I recently spoke with Dr. Martínez about this free, direct-to-consumer AATD screening program; what alpha-1 antitrypsin deficiency is; and how AlphaID At Home can help people take charge of their health.

About Alpha-1 Antitrypsin Deficiency (AATD)

Alpha-1 antitrypsin deficiency is a hereditary disorder caused by SERPINA 1 gene mutations. Normally, this gene encodes for the production of Alpha-1 antitrypsin (AAT) protein. This protein protects the lungs from inflammation. When the body doesn’t produce enough AAT, an enzyme called neutrophil elastase can attack body tissues, harming the lungs, liver, and skin.

Unfortunately, there is a huge diagnostic delay for AATD. It takes many people, on average, between five to eight years to receive a diagnosis. This delays treatment that could open airways, prevent infection, and reduce lung damage.

Symptoms of AATD often manifest between ages 20-50 and may include:

• Frequent or repeated respiratory infections
• Unintended weight loss
• Exercise intolerance
• Fatigue
• Enlarged liver
• Shortness of breath
• Rapid heart rate
• Hard, painful lumps under the skin
• Skin lesions
• Wheezing
• Abdominal distention
• Jaundice (yellowing of the skin, eyes, and mucous membranes)
• Chronic itchiness
• Dark urine

AlphaID At Home Genetic Health Risk Service

The entirety of Antonio Martínez’s career has been dedicated to designing solutions for complex genetic diseases. After receiving his PhD in Genetics from the University of Navarra, Dr. Martínez founded Progenika Biopharma S.A. in 2000, which was acquired by Grifols in 2013. Since joining Grifols as the President of the Diagnostic Division, Dr. Martínez has been tirelessly working to transform the diagnostic landscape.

Accessibility problems, as well as the financial burdens associated with healthcare, often block patients from genetic testing. Some doctors also might be more hesitant to provide genetic testing as anything other than a “last resort.”

AlphaID At Home overcomes these barriers. Grifols developed the solution to facilitate access to genetic testing and screening of AATD for people living with COPD. While a similar program was initially developed for healthcare professionals, Grifols sought to reach the patient community directly. 

How It Works

With AlphaID At Home, people can learn their risk of developing AATD through a small saliva sample. This tool was cleared by the FDA in November 2022. It works by screening for the 14 most commonly reported genetic mutations associated with alpha-1 antitrypsin deficiency and includes rare and null alleles.

To request a test, people with COPD can log on and order through the secure, HIPAA-compliant online portal. If you are on the website and feel that symptoms apply to you, you may also request a test. Grifols aims to make this process as easy on patients as possible. If you are interested in ordering a test, you don’t need to wait for your physician to establish medical necessity. The test is also free. Says Dr. Martínez:

“Grifols has demonstrated our full commitment to the Alpha-1 community for many years. We established diagnostic tools at the healthcare provider level 20 years ago and our philosophy here is the same. We want to support the community, raise awareness, and offer proper diagnosis. Once diagnosed, patients can be treated with Grifols products, which recover the level of AAT that you need to protect your lung health, or others on the market. Grifols is proud to make AlphaID At Home available to patients for free and help to improve their quality-of-life.”

After receiving your collection kit and providing a saliva sample, you send it to a CLIA-certified lab for processing. As I mentioned earlier, the diagnostic journey for AATD can often take years. AlphaID At Home streamlines this process, providing genetic results in just a few weeks. Dr. Martínez shares:

“We worked with the FDA to set up five different reports that you might receive based on the risk of developing the disease. If your report says ‘increased risk,’ for example, or if we find a SERPINA1 defect, we would direct you to contact your physician for further evaluation. While AlphaID At Home can identify the risk of lung disease, only your physician can confirm the Alpha-1 diagnosis.”

To qualify for AlphaID At Home, you must be age 18 or older.

Community Engagement

The patient experience was deeply considered during the development of AlphaID At Home. Grifols worked closely with the community and AATD patient associations. This commitment to patient-centricity shines through their actions: maintaining websites to educate patients and physicians about AATD globally, and first introducing tools like AlphaID At Home to the Alpha-1 Foundation.

Since AlphaID At Home launched, consumer response has been very positive. Says Dr. Martínez:

“This proves that this tool is important for patients. We hope, in the future, to extend this platform into other conditions.”

Learn more about AlphaID At Home.