When Should Children of Alpha-1 Patients Be Tested?

For infants showing signs of liver problems, testing for Alpha-1 antitrypsin deficiency (Alpha-1) should be done immediately ^[1]. However, for children who are healthy and have no symptoms, major medical guidelines recommend waiting until the child is 18 years old to pursue genetic testing ^[2][3]. Waiting preserves the child’s right to make their own informed choices about their genetic information and avoids potential impacts on their future ^[3][4].

Testing the Co-Parent First

Because Alpha-1 is an inherited condition, your child’s risk depends entirely on the genes they inherit from both biological parents ^[4][5]. If you have Alpha-1, your child will automatically inherit at least one Alpha-1 gene from you, making them a “carrier” at minimum ^[6].

Testing the other biological parent is often the most logical first step ^[4]. If the other parent does not carry any Alpha-1 mutations, your child will only be a carrier, which carries a much lower risk of severe disease ^[7][6]. This can provide tremendous peace of mind without ever having to draw blood from or test your child.

When Testing a Child is Medically Necessary

While Alpha-1 is often thought of as an adult lung condition, it can also cause liver disease in children. In some cases, the liver has trouble processing the abnormally shaped Alpha-1 proteins, causing them to build up and damage the liver ^[8].

Testing is crucial and should not be delayed if a baby or child shows symptoms of liver issues, such as:

• Neonatal cholestasis (reduced bile flow in newborns that can cause liver damage) ^[1]
• Jaundice (yellowing of the skin or eyes) ^[1]
• Unexplained elevated liver enzymes found during routine blood work ^[1]
• Unexplained liver enlargement or portal hypertension in toddlers or older children ^[9]

If your child is symptomatic, an early diagnosis allows their healthcare team to start specialized interdisciplinary care and actively monitor their liver health ^[1][9]. Keep in mind that while a preliminary Alpha-1 screening can be minimally invasive, a symptomatic child will need traditional venous blood draws to thoroughly check their liver function ^[1].

Why Guidelines Recommend Waiting for Healthy Children

For children who do not have symptoms, organizations like the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) strongly advise against predictive genetic testing ^[2][10]. Because the lung complications of Alpha-1 typically do not appear until between ages 20 and 50 ^[11][12], there is no immediate medical treatment or intervention prescribed for healthy children with Alpha-1 ^[13].

Instead of testing, the primary medical advice for managing the risk in asymptomatic children focuses on preventative health behaviors that benefit all children, primarily avoiding exposure to secondhand tobacco smoke and vaping, and maintaining good indoor air quality ^[13][12].

Waiting until age 18 to test asymptomatic children is recommended for several reasons:

• Preserving Autonomy: It allows the child to grow up and decide for themselves if they want to know their genetic status ^[2][3].
• Protecting Mental Health: Knowing they have a genetic risk for a late-onset disease can cause unnecessary anxiety, fear, and psychological burden during childhood ^[14][2].
• Safeguarding Future Insurance: While the Genetic Information Nondiscrimination Act (GINA) protects against discrimination in health insurance and employment, it does not apply to life insurance, disability insurance, or long-term care insurance ^[15][16]. Having a genetic diagnosis on their pediatric medical record could legally be used by companies to deny them life insurance coverage as adults ^[15][17].

How Testing is Done

When it is time to screen for Alpha-1—whether testing the co-parent or an adult child—the initial process is much easier than it used to be. The diagnostic process can be done using non-invasive methods:

• Buccal (cheek) swabs: A small cotton swab is rubbed on the inside of the cheek to collect DNA. Note: This method only identifies your specific genetic mutations; it does not measure Alpha-1 protein levels in the blood ^[18].
• Finger pricks: A tiny needle pricks the finger to collect a few drops of dried blood on a specialized card. This method can check both your genetic mutations and your Alpha-1 protein levels ^[5].

Seeking Genetic Counseling

The decision of whether or not to test a child is deeply personal and can be highly stressful. The Alpha-1 Foundation and medical guidelines strongly recommend genetic counseling ^[4]. A genetic counselor can help you navigate the medical, emotional, and social impacts of testing, ensuring you have the support you need to make the best decision for your family ^[4].