Science of Eli
Newborn screening isn’t new. For decades, babies have been tested soon after birth to screen for genetic health conditions that can be treated with a medication or a special diet. This screening has saved thousands of lives.
But most state public health testing programs are inconsistent, only testing for a fraction of conditions that have known interventions or treatments. We estimate that 1 in 150 babies is affected with a treatable condition that is not screened with today’s standard testing.
We believe that every baby should have access to the most complete testing. That’s why we created Eli, an expanded newborn screening service that screens for 32 conditions and health risks that may not be covered by standard screening.
Every Life's Important
Give your baby the best possible start to life with Eli.
about the Eli Screen
When you order Eli, an independent physician from our partners at Genome Medical will review your order to make sure it’s right for you and your baby. You’ll bring the collection kit to the hospital at delivery or to your baby’s first pediatrician appointment, where your doctor or nurse will collect two samples from your baby. One is a blood spot from a heel stick (this is the same way babies are tested in the hospital for standard newborn screening). The other is a saliva sample.
Once the sample reaches the lab, your results will be ready in about a week. The results will tell you and your pediatrician if your baby is at risk for any of the 32 conditions that are part of the Eli test, or if your baby is a carrier for any DNA changes that can lead to these conditions. Sometimes, identifying a single DNA change in your baby can help to ensure the health of future pregnancies as well. Eli only tests for conditions that are actionable, meaning a medication, special diet, or another type of therapy can treat the condition or lessen the symptoms.
Eli is not meant to replace your state newborn screening test, which tests for different conditions and risks. In addition to the Eli test, it’s important that your baby has your state’s standard testing to get the most information for your baby and family.
the latest science
The Science behind Newborn Conditions
DNA inside every cell in the body provides instructions that affect what our bodies look like and how our organs and systems function. Changes in the DNA code can sometimes lead to diseases or health problems. Most health conditions that affect babies within the first year of life are caused by changes in the DNA code. Sometimes these changes appear for the first time in a baby, and sometimes these changes are inherited from one or both parents. Because parents can sometimes carry a DNA change but not be affected with a condition themselves (this is called being a carrier), babies are still at risk for newborn conditions even if there is no family history of disease.
Eli screens for 31 conditions that are caused by changes in the DNA code. In our lab, our scientists isolate DNA from your baby’s blood spot sample and sequence it (meaning they ‘read’ the DNA code). Then, we analyze any DNA changes we find to understand if your baby is at risk for any of the conditions.
For six of these conditions, Eli also tests your baby’s dried blood spots to look at the amounts of certain enzymes (special types of proteins that are involved in chemical reactions in the body). This is called biochemical testing. Combining the findings of the biochemical tests with the DNA test gives our scientists an even more accurate picture of whether your baby may be at risk for one of the screened conditions.
The last condition Eli screens for is a viral infection called congenital cytomegalovirus (cCMV). Eli looks for the presence of DNA from the virus in your baby’s saliva.
If the Eli test finds that your baby may be at risk for any of these conditions, a board-certified genetic counselor will reach out to you and your pediatrician to discuss the results and answer your questions. You and your doctor will also receive a comprehensive report that explains exactly what was found, and how this may impact your baby’s health.
The Science behind Eli
Eli was conceived by Baebies, a company focused on improving infant healthcare across the globe. The scientists at Baebies knew there was a need for all babies to have access to the most advanced health screening at birth. Eli bridges the gap between the standard testing offered by state public health testing programs, and all the additional newborn conditions that can be treated if detected soon after birth.
Eli combines several advanced technologies, including targeted next generation DNA sequencing and biochemical tests, leading to the most thorough screening approach and your peace of mind. All testing is performed in our CLIA-certified laboratory in North Carolina.
Eli is a newborn screening test that can currently detect the risk of 32 actionable conditions at birth- and the list will continue to grow. Our multi-method solution uses both blood and saliva-based tests to supplement state newborn screening, covering additional conditions that are not included by most states. By combining the power of biochemical testing with next-generation DNA sequencing, your patients can easily access reliable and cost-effective expanded newborn screening.
Every Life's Important
Give your baby the best possible start to life with Eli.
Why Every Life's Important
Approximately 1 in 150 babies is affected by a treatable genetic or environmental-exposure related condition on the Eli test panel. Early detection of these conditions is critical to your ability to intervene, and provide better outcomes for your patients and their families. All of the conditions that we test for have available intervention steps, including drugs (either FDA-approved or in stage III clinical trials), dietary modifications, surgical interventions or lifestyle changes. See our list of conditions included on Eli test to the right.
Eli was conceived at Baebies, where our industry-leading team of scientists design and develop affordable, highly accurate tools to ensure that every baby has their healthiest start. Eli is closing the gap on identifiable, actionable newborn conditions. By offering early detection and medical intervention when needed, you can help bring peace of mind to your patients.
How the test works
Collecting samples for Eli screening can be easily performed at the hospital or in your office at the baby’s first appointment. Eli requires both dried blood spots from a heel stick, as well as a cheek swab. The Eli test kit includes all of the supplies needed to collect both samples. There is also a brief questionnaire to complete and return with the sample. You or your patient can use the prepaid return shipping box to return the samples to Baebies’ CLIA certified lab in North Carolina. Results will be ready in 7 business days.
Eli is all about detecting newborn conditions early, when treatment or interventions are most critical. And our best in the industry short turnaround time means that your patients will get the care they need, faster. Rest assured that all positive test results will be sent to you as the treating physician, so you can take action. Your office may also receive a phone call from a genetic counselor at Genome Medical, our clinical service partner. The genetic counselors at Genome Medical are available to answer any questions that you or your patients may have.
Eli was thoughtfully developed by our team of scientists and doctors, to provide the most reliable and accurate results. The Eli test meets the highest standards in all of the following categories:
- Duchenne Muscular Dystrophy
- Fabry Disease
- Gaucher Disease
- MPS II (Hunter Syndrome)
- MPS I (Hurler-Scheie Syndrome)
- Pompe Disease
- ASAH-1 Disorders (Farber Disease and SMA-PME)
- Cerebral Creatine Deficiency Syndrome
- Cerebrotendinous Xanthomatosis
- Congenital Hearing Loss (Cx26)
- Copper Transport Disorders (Menkes Disease and Occipital Horn Syndrome)
- Copper Transport Disorders (Wilson Disease)
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Hereditary Fructose Intolerance
- Krabbe Disease
- Lysinuric Protein Intolerance
- Lysosomal Acid Lipase Deficiency
- Metachromatic Leukodystrophy
- MPS IIIA (Sanfilippo A Syndrome)
- MPS IIIB (Sanfilippo B Syndrome)
- MPS VI (Maroteaux-Lamy Syndrome)
- MPS VII (Sly Syndrome)
- Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
- Niemann-Pick Disease Type A and Type B
- Smith-Lemli-Opitz Syndrome
- Spinal Muscular Atrophy
- Vascular Ehlers-Danlos Syndrome