• Early Check testing is a voluntary research study. The Early Check screening tests are performed only if parents explicitly opt-in to the testing by signing up on the Early Check Portal.
• The test results are reported directly to families rather than to health care providers. Normal test results and risk results for type 1 diabetes are reported via the secure Early Check Portal. Results that are not normal are reported to the family by a genetic counselor on the Early Check study team.

• Babies’ personal identifiers are not shared with our laboratory partner. Deidentified specimens are labeled with the study identification numbers only.
• Data storage is HIPAA-compliant with strong security measures in place.
• Participant information is shared with the Early Check researchers under a Business Associate Agreement and is regulated by HIPAA.
• Blood spots are stored by the NC State Laboratory of Public Health. If you have questions about storage of the blood sample, please call the NC State Lab: 919-733-3937.
• We have a certificate of confidentiality to further protect participants’ confidentiality and privacy.

Early Check screened for 3 groups of conditions from September 2023 to October 2025. All babies who were signed up were screened for Group 1 Treatable conditions.

Parents could choose to add screening Group 2 and Group 3 if they wished after reading more information in the Early Check Portal.

1. Group 1: Rare treatable conditions - early treatment can prevent the most serious symptoms. 
   See the conditions included in Group 1.
2. Optional Group 2: Rare conditions that have potential treatments - treatments may not be able to prevent the most serious symptoms or new treatments are still being studied.
   See the conditions included in Group 2.
3. Optional Group 3: Risk for Type 1 Diabetes (T1D) - a common childhood disease that is treatable.  Early Check uses a genetic risk score to calculate the baby’s lifetime risk for developing T1D. The report explains this risk to parents and teaches about signs of T1D.

Learn how we chose conditions for Early Check.

Read about the importance of newborn sequencing.

• An Early Check medical geneticist and certified genetic counselor reviewed positive results before notifying families. Meet Our Team
• When requested, the genetic risk for type 1 diabetes was calculated and reported by Early Check.
• Results are expected by the time a baby is 3-4 months-old.

For single gene conditions, our laboratory partner and Early Check used bioinformatic screening to identify and report only pathogenic and likely pathogenic variants associated with the conditions in the screening groups parents choose.

Variants of uncertain significance, and variants that are benign or likely benign were not reported.

Carrier screening for infants is not the goal of Early Check. Normal Early Check results do not rule out carrier status for the conditions screened.

However, we occasionally identified and reported carrier status for recessive conditions in babies. Early Check reported carrier status only if there is sufficient scientific evidence to raise concern for a potential health impact for the baby.

False positive sequencing results:

• Although DNA sequencing is accurate, some false positive results are expected. Early Check provided free additional testing to confirm the screening result. This included repeat targeted sequencing of the baby’s gene and targeted parental testing to confirm that the 2 recessive pathogenic or likely pathogenic variants found in the baby were inherited from each parent (in trans).
• In some cases, Early Check also paid for some additional laboratory tests and recommended that the baby’s doctor or specialist order other tests that are not covered by the study. Early Check does not pay for doctor and specialist office visits or treatments for the baby.
• 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.

False negative sequencing results:

• We only identified and reported groups of health conditions chosen by parents when they signed up for Early Check.
• Not every baby with these health conditions will be identified by Early Check DNA sequencing.

Type 1 diabetes (T1D) is the most common form of diabetes in children, occurring in approximately 1 in 250 individuals. T1D is an autoimmune disease that can be managed with medication. Diagnosis and treatment early in the disease course provides the most benefit. A new FDA-approved drug is available for use in children over 8 years of age that has been shown to slow disease progression.

• If parents chose Early Check screening for T1D risk, Early Check used the sequencing data to calculate the genetic risk score and generate a report. All T1D reports were posted in the secure Early Check portal.
• Reports indicated the level of concern (low, moderate, and higher) and provided a numeric risk range. 
• Babies with higher concern for T1D were offered autoantibody testing for free through Early Check.

Detailed information about Early Check screening for T1D risk can be found here.

Babies known to be at high risk for a condition due to early clinical signs, prenatal diagnosis, parents' carrier status, or family history of the disorder will usually benefit from clinical genetic counseling and diagnostic testing rather than Early Check. Here's why:

• As a screening test, an initial positive Early Check result requires additional testing to confirm the finding.
• Among babies with a first degree relative with type 1 diabetes (T1D), the lifetime risk for T1D may actually be higher than the risk predicted by Early Check.
• Early Check may miss some babies with single gene conditions (false negative results) because we may not test for all genetic causes of some disorders. 
• When possible, targeted clinical diagnostic testing may provide a diagnosis and allow for treatment faster than Early Check. For some conditions, treatment must start as early as possible for best outcomes.

If you have questions about Early Check, you can speak with a genetic counselor by contacting us at GeneticCounselor@EarlyCheck.org.

Most families received a normal test result for their newborn. Normal results and all type 1 diabetes risk range results were posted on the secure Early Check Portal.

If the test results were positive for a single gene condition (Groups 1 and 2), a genetic counselor called the family to explain the result. Early Check provided repeat DNA testing to confirm the finding, parental testing, minimal-risk testing to establish the phenotype, and an initial consultation with a geneticist when indicated. Early Check provided support and helped the family find specialists to care for their child.

Early Check obtains permission from parents to contact the baby’s primary healthcare team.  For babies with a positive finding, the genetic counselor will call the healthcare provider to share the results of tests performed by Early Check and to provide information, resources, and recommendations for future care.

The research screening results will not automatically be uploaded into the child’s electronic health record (EHR). However, these results may be uploaded to the EHR if the child receives clinical services or treatment part of the research protocol. This is one of the ways Early Check testing is different from standard newborn screening.

Early Check is led by a collaborative from RTI International, University of North Carolina at Chapel Hill (UNC), and the NC State Laboratory of Public Health.

Meet our partners and funders.

Over 60 of the conditions screened by Early Check are also tested for by standard newborn screening. Early Check uses DNA sequencing whereas standard newborn screening (NBS) uses phenotypic testing.  Because of the different testing modalities, it’s possible that a baby's Early Check results may not match their NBS results. Finding and explaining discrepant is one of our research goals.

Early Check participants give consent for open sharing of test results between the North Carolina Laboratory of Public Health (NCLPH) and Early Check so we can track discrepant results and coordinate care for the baby and family.

The Early Check team will explain any mismatches to the family.

Find answers to commonly asked questions.

Contact us at support@earlycheck.org or 866-881-2715.