Who should be tested?
The Alpha-1 Foundation is dedicated to promoting worldwide awareness of Alpha-1 Antitrypsin Deficiency and encourages testing for the disorder among population groups at high risk for Alpha-1. Early diagnosis and adherence to the proper health management plan are important elements to attaining an optimal quality of life.
The World Health Organization (WHO), the American Thoracic Society (ATS), the European Respiratory Society (ERS), and the Alpha-1 Foundation’s Medical and Scientific Advisory Committee (MASAC) recommend that individuals diagnosed with the following diseases should be tested for Alpha-1:
Chronic Obstructive Pulmonary Disease (COPD)
Emphysema
Bronchiectasis
Chronic bronchitis
Asthma that is incompletely reversible after aggressive treatment
Chronic liver disease
Unexplained liver disease in infants and children
The skin disease panniculitis
What is involved in testing for Alpha-1?
Individuals can ask their doctor to test them for Alpha-1 or they may choose to be tested on a confidential basis through the Foundation’s Alpha-1 Coded Testing (ACT) study.
Doctor Prescribed Test
Contact your doctor and discuss if testing for Alpha-1 is appropriate for you. If you agree to be tested, your doctor will write a prescription for the test. Testing for Alpha-1 is simple, quick and highly accurate. Testing can be conducted on a blood sample (blood draw of finger stick test) or mouth swab test. Consult with your health insurance provider to determine if your plan covers the cost of this test.
Free Testing in Florida
The State of Florida Department of Health and Human Services, the Alpha-1 Foundation and the University of Florida College of Medicine sponsor an awareness, screening and detection program for Alpha-1. This program is called the State of Florida Detection Program and it is free to Florida residents. It is administered through doctors’ offices using a finger stick test available from the Alpha-1 Foundation. Your test results will be mailed directly back to your doctor to ensure accurate interpretation.
For more information on this program or if your doctor needs test kits, please contact Dr. Jorge Zamudio at the Alpha-1 Foundation at 1-888-825-7421 ext. 246 or jzamudio@alphaone.org
Alpha-1 Coded Testing Study
Many people at risk for Alpha-1 delay being tested for this genetic condition due to concerns about privacy of test results. The Alpha-1 Foundation supports a confidential opportunity to be tested for Alpha-1 through a program called the Alpha-1 Coded Testing (ACT) Study. This research study is conducted at the Medical University of South Carolina (MUSC) and examines people’s thoughts and feelings about the risks and benefits associated with learning genetic information. Testing through the ACT Study is free and confidential. For more information please contact the Alpha-1 Research Registry Program at MUSC toll free at 1-877-886-2383 or alphaone@musc.edu.
Informed Consent
Informed consent is the process through which a person receives appropriate information, understands that information, and agrees to testing. It originates from the legal and ethical right the patient has to direct what happens to their body and from the ethical duty of the physician to involve the patient in their healthcare. You should discuss the decision to get tested for Alpha-1 with your doctor and make sure all of your questions are answered.
Potential Benefits of Alpha-1 Testing May Include:
Allow you to increase your knowledge of Alpha-1 and make you aware of your personal risk
Provide information for future health care decisions
Allow you to take steps that may slow the progression of Alpha-1
Assist you and your family in making decisions about work, lifestyle and having children
Potential Harms of Alpha-1 Testing May Include:
May be personally unsettling
May affect your ability to get health and life insurance
May influence willingness of employers to hire you
May create stress in your family
May increase your personal health care costs