• Early Check used DNA sequencing to screen for over 100 rare genetic conditions that can be managed with early treatment. 
• These conditions usually cause serious symptoms or death if not treated early. 
• All babies signed up for Early Check were tested for these treatable conditions. 

What are some examples of health conditions in this group?

• Examples include some types of childhood cancers, like retinoblastoma; genetic conditions that affect heart rhythm, like Jervell and Lange-Nielsen syndrome; neonatal diabetes; genetic forms of bleeding disorders, like hemophilia; and many more.

Why is early diagnosis important?

• Early diagnosis and treatment can prevent or improve most serious symptoms and can be life-saving for some conditions.

• Early Check used DNA sequencing to look for a smaller group of rare genetic conditions that currently have less effective treatments.
• These conditions usually cause babies or children to have serious symptoms that may not be prevented with existing treatments. For some, research studies to improve care for children with these conditions are happening now.
• Parents were able to choose if they wanted to sign their baby up to be screened for the conditions in Group 2. 

What are some examples of health conditions in this group? 

• Examples include some types of intellectual and developmental disability; some muscle disorders, like Duchenne muscular dystrophy; and many more. 

Why is early diagnosis helpful? 

• Early diagnosis, medicines, and special care may help to give children with these conditions the best possible start and may allow children to take part in studies that could lead to better treatments. 

• Early Check provided parents the opportunity to learn their baby’s genetic risk for type 1 diabetes. Type 1 diabetes is a fairly common and treatable health condition and is the most common form of diabetes in children. (Note: Type 1 Diabetes is not the same as type 2 diabetes, which is more common in adults.)
• Type 1 diabetes causes serious symptoms or death if not treated.
• Babies are not born with type 1 diabetes, but it can show up later in childhood.
• Early Check used information from DNA sequencing to calculate the baby's risk of getting T1D during their lifetime. This screening test does not give a “yes” or “no” answer.
• Parents were able to choose if they wanted to sign their baby up to be screened for the risk of type 1 diabetes. 
• Learn more about screening for T1D here.

Why is this information important?

• For babies with a higher risk for type 1 diabetes, parents and doctors can watch for signs of the condition as they grow. This could lead to earlier diagnosis, treatment, and better health for a child with type 1 diabetes.

There are two ways a condition could be included in Group 1.

1. There are things a doctor can do (treatments) to improve the health of a child with the condition. We must know enough about the treatments to know that they work well for most children. The treatments need to start early in life, by the time a child is 2 years old.
   
   OR
    
2. The condition is screened for by standard newborn screening. Babies would be screened for these conditions twice – once by the state and once by Early Check - using different screening methods.

There are two ways a condition could be included in Group 2.

1. There are things a doctor can do (treatments) to improve the health of a child with the condition. The treatments may not make as much of a health improvement as those in Group 1. The treatments may be new or may have been given to fewer children with the condition, so we know less about how well they work. The treatments need to start early in life, by the time a child is 2 years old.
   
   OR
    
2. Conditions without treatments can be included if signs of the conditions usually show up in children by the time a child is 2 years old and there are studies going on now that may result in new treatments in the future.