What Health Care Providers Need to Know
Early Check is a statewide, voluntary study that aims to support the health of newborns and families in North Carolina.
Beginning in late 2023, Early Check will now use DNA sequencing panels to identify about 200 serious health conditions and can also report the lifetime risk for type 1 diabetes.
Newborn sequencing research programs like Early Check are expected to have a positive impact on public health. Read more and find out how you can nominate a genetic condition for inclusion in Early Check.
Our goal is to find serious health conditions in babies so they can get help sooner. Research data may also be used to inform newborn screening public health policy.
How you can help
Providers are not asked to recruit patients for Early Check, but we want you to be aware of the study in case you get questions from your patients.
If patients seek your guidance about Early Check, please refer them to the secure Early Check Portal (portal.earlycheck.org) to learn more about the study. The portal includes plain language information about the study, how to enroll, and contact information for the Early Check Support team.
What you need to know
We offer the testing at no cost to families, and no insurance is needed. No additional blood is drawn, so there will be no harm or pain to the newborn. The testing is done using the dried blood (DBS) spot from standard newborn screening (NBS).
In the event that standard newborn screening is not performed in North Carolina or if the residual DBS from NBS is insufficient for the additional Early Check tests, the baby will be withdrawn from the research study and the parent notified.
Learn more about how Early Check works.
- 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.
Parents visit the secure Early Check Portal to find out if their baby is eligible, learn about the study, choose the groups of conditions to be screened for their baby, and sign the electronic consent.
If the birthing mother does not or will not have custody of the baby, the co-parent or legal guardian should contact Early Check for assistance in signing up.
Enrollment is limited, so not every baby will be able to participate.
- Babies’ personal identifiers are not shared with our laboratory partner, GeneDx. 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 currently screens for 3 groups of conditions. All babies who are signed up will be screened for Group 1 Treatable conditions.
Parents can choose to add screening Group 2 and Group 3 if they wish after reading more information in the Early Check Portal.
- Group 1: Rare treatable conditions - early treatment can prevent the most serious symptoms.
See the conditions included in Group 1.
- 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.
- 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.
- An Early Check medical geneticist and certified genetic counselor review positive results before notifying families. Meet Our Team
- When requested, the genetic risk for type 1 diabetes is calculated and reported by Early Check.
- Results are expected by the time a baby is 3-4 months-old.
For single gene conditions, GeneDx and Early Check will use 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 will not be 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 may occasionally identify and report carrier status for recessive conditions in babies. Early Check will report 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, we expect some false positive results. Early Check will provide free additional testing to confirm the screening result. This includes 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).
- Early Check may also pay for some additional laboratory tests and then may recommend 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 will only identify and report groups of health conditions chosen by parents when they sign 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 choose Early Check screening for T1D risk, Early Check uses the GeneDx sequencing data to calculate the genetic risks score and generate a report. All T1D reports will be posted in the secure Early Check portal.
- Reports indicate the level of concern (low, moderate, and higher) and provide a numeric risk range.
- Babies with higher concern for T1D are 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 are unsure whether Early Check is the best approach for a baby known to be at high risk, you can speak with a genetic counselor by contacting us at GeneticCounselor@EarlyCheck.org.
Most families will get a normal test result for their newborn. Normal results and all type 1 diabetes risk range results are posted on the secure Early Check Portal.
If the test results are positive for a single gene condition (Groups 1 and 2), a genetic counselor will call the family to explain the result. Early Check provides 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 provides support and helps 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.
If a patient asks you for guidance about participating in the study, please direct them to the Portal. This secure portal provides English and Spanish plain language information about the research study and conditions screened. Families can also call our toll-free study hotline at 866-881-2715 or email Support@EarlyCheck.org. Parents will receive a reply by the following business day.
40-50 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.
The birthing parent may receive a letter about Early Check from the North Carolina Laboratory of Public Health after delivery, inviting them to sign up for Early Check.
They may hear about the study through parent-oriented groups like WIC, OB/GYN practices, pediatricians, medical record portals like MyChart, social media, and sometimes via in-person recruitment in hospitals.