Who should be tested?
The Alpha-1 Foundation encourages testing for Alpha-1 among those at high risk for this genetic disorder. Early diagnosis can help an Alpha consider different lifestyles, professions or other personal decisions that could maintain or improve their health.
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 anyone diagnosed with the following diseases should be tested for Alpha-1:
- Chronic Obstructive Pulmonary Disease (COPD)
- 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?
Anyone can ask their doctor to test them for Alpha-1 or they may choose to be tested confidentially through the Foundation’s Alpha-1 Coded Testing (ACT) study.
Doctor Prescribed Test
Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; you need to get a blood test to know for sure. 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 or finger stick 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. The State of Florida Detection Program is free to Florida residents. It is administered through doctors’ offices using a finger stick test available from the Alpha-1 Foundation. Test results are mailed directly back to your doctor.
For more information. or if your doctor needs test kits, contact Laura Pearson at the Alpha-1 Foundation, (877) 228-7321 ext. 250 or email@example.com.
Alpha-1 Coded Testing Study
Many people at risk for Alpha-1 delay being tested due to concerns about privacy of test results. The Alpha-1 Foundation supports a confidential opportunity to be tested for Alpha-1 through 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.
Order a Test Kit
You’ll be directed to an application for a free, confidential test kit for Alpha-1 provided by the Alpha-1 Coded Testing (ACT) Study – an Alpha-1 Foundation-supported program run by the Medical University of South Carolina.
For more information, contact the Alpha-1 Research Registry Program at MUSC toll-free at (877) 886-2383 or firstname.lastname@example.org.
For information on the Alpha-1 Association Genetic Counseling Program at the Medical University of South Carolina, call (800) 785-3177 or click here.
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.
Some Potential Benefits of Alpha-1 Testing:
- Deciding to stop cigarette smoking, getting help if necessary
- Choosing never to smoke
- Avoiding secondhand smoke
- Avoiding harmful exposures on the job and in the environment
- Avoiding excessive alcohol use
- Better conversations with healthcare providers about preventive care and improving health
Some Potential Harms of Alpha-1 Testing:
- 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
For more information about informed consent, contact the following resources:
- National Human Genome Research Institute
- E-Medicine Health
- U.S. Department of Health and Human Services
Read information on testing for healthcare providers here.