Family Testing


“It’s all in the Family” is the Alpha-1 Foundation’s program to help Alphas and Alpha-1 carriers tell their families about Alpha-1. Family testing for Alpha-1 could improve the lives and health of the people you love. If you have Alpha-1 Antitrypsin Deficiency (Alpha-1) – or are an Alpha-1 carrier – we suggest that your relatives be tested.


What are common risk factors for Alpha-1?

If you have one or more of the following risk factors, you should be tested for Alpha-1:

  • A family history of Alpha-1. (Parent, child or sibling is diagnosed with the condition.)
  • One of these conditions: COPD, emphysema, chronic bronchitis or bronchiectasis.
  • Asthma that is not completely reversible, even with aggressive medical treatment.
  • Unexplained liver disease.
  • A family history of lung or liver disease.
  • The skin disease panniculitis.


How is Alpha-1 Inherited?

Alpha-1 Family Tree

Depicts a few options for gene inheritance


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.


Why should relatives be tested?

Your relatives may also have one or two Alpha-1 genes and not be aware of their own health risks. If they learn they have Alpha-1, they may consider different lifestyles, jobs or other decisions that could maintain or improve their health. Their doctor may also be able to give them better medical advice. The benefits of testing include:

  • Deciding to stop cigarette smoking, seeking help if necessary;
  • Choosing never to smoke;
  • Avoiding secondhand smoke;
  • Avoiding harmful environmental and occupational exposures;
  • Avoiding excessive alcohol use;
  • A better dialogue with healthcare providers about preventive care and improving health.

Is there harm in knowing the results of Alpha-1 testing?

There are laws protecting against some discrimination on the basis of genetic risk. The Alpha-1 Foundation has been encouraged by the passage of the Genetic Information Nondiscrimination Act (GINA) to move forward with a family awareness program. However, it is still unclear what protections are in place for those with Alpha-1. The Foundation recommends using the Alpha-1 Coded Testing (ACT) Study for family testing. Knowing the results of genetic testing may create emotional stress. Genetic counselors can help with understanding and coping with these issues. Potential harms of Alpha-1 testing may include:

  • May be personally unsettling
  • May affect your ability to get life and disability 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 and Alpha-1 testing, visit Testing for Alpha-1.


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