What Conditions are Tested by Early Check?

What Conditions are Tested by Early Check?

All babies born in North Carolina are already screened shortly after birth for over 60 health conditions as part of standard newborn screening.

Early Check provides extra, optional testing for babies whose parents sign up for the study.  Conditions tested by Early Check change over time. Since Early Check began, conditions have been added and removed as we learned more about them. We plan to add tests for more conditions in the future.

Our team of experts will review and select these conditions using a common set of guidelines. Below you can find brief descriptions of the kinds of conditions currently being screened by Early Check and see the conditions we’ve screened for in the past

Is Early Check screening perfect?

  • Early Check screening will not find all health conditions in all babies.
  • If Early Check finds a potential health condition in a baby, follow-up testing is done to learn more.
  • All babies are different. For babies with the health conditions screened through Early Check, the study team and doctors will not know exactly when their symptoms will start and how severe the symptoms will be.

Conditions Currently Screened by Early Check

  • Early Check will use 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 who are signed up for Early Check will get testing 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 can check your baby’s DNA 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 can choose if they want 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. 

  • Parents can 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 uses information from DNA sequencing to calculate the risk of getting T1D during their lifetime. This screening test does not give a “yes” or “no” answer.
  • Parents can choose if they want to sign their baby up to be screened for the risk of type 1 diabetes. 

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.

How does Early Check select the conditions to include?

Our team developed a set of guidelines for reviewing and selecting health conditions for screening by Early Check. For these conditions,

  • signs and symptoms usually begin in early childhood,
  • support services, treatments in development, and/or approved treatments are available for affected children,
  • treatments may be more effective when started very early in the disease course,
  • early identification would likely lead to an overall benefit for babies or families.

In time, we plan to add more conditions to Early Check. We’ll draw on our guidelines, the advice from our board of expert advisors, and the most up-to-date scientific evidence to find conditions that fit with the goals of Early Check.

How did we decide which genes and conditions to include in Group 1 and Group 2?

There are two ways a condition can 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 can 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.

 

Here is our framework for inclusion.

 

"Without early screenings, it is extremely hard to conduct clinical studies to help infants with rare conditions. This creates a barrier to developing new therapies. Early Check will fill this gap, benefitting science as well as patients."

– Dr. Lisa Gehtland, Program Director, Genomics, Ethics and Translational Research at RTI International