How Supplemental Newborn Screening Can Improve Your Child’s Health


How Supplemental Newborn Screening Can Improve Your Child’s Health

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As medical technology advances, some parents are choosing to supplement the screening that newborn babies routinely receive for medical conditions with additional screening for less common health challenges. Because genetic testing has improved in recent years, early screening can reveal many inherited diseases before symptoms appear. Identifying these disorders quickly can allow caregivers to begin utilizing health management options very early in a child’s life.

Why Supplemental Newborn Screening?

If these genetic conditions are rare and kids are screened for routine disorders anyway, why bother with getting extra newborn screening? Parents who choose to utilize supplemental newborn screening do so for some of the following reasons:

  1. Standard screening isn’t standardized. In the U.S., the medical conditions for which people are screened depend on the protocols adopted by individual states. Some states screen for the 34 medical diseases listed on the U.S. Department of Health and Human Services’ Recommended Uniform Screening Panel. Some choose to screen for various other conditions as well. For example, a newborn in North Carolina is currently screened for 37 medical conditions, while one born in South Carolina is tested for 53. Because there’s no standard protocol, some parents choose to screen for a wider array of tests than their state’s public health programs provide.
  2. Early intervention can help. Early intervention can ease the process of living with many rare medical disorders. Take Glucose-6-phosphate dehydrogenase (G6PD) deficiency, for example, a fancy name for a type of anemia caused by exposure to fava beans and certain other foods and food supplements. Most states don’t test for this kind of anemia, but supplemental newborn screening programs can screen for it, and parents can then alter their children’s diets.
  3. It’s not all that rare to have a rare medical condition. No one of the individual conditions for which supplemental newborn screening is available is particularly common – but taken as a collective, this group of diseases affects a significant number of people. One in 150 people, for example, has one of the 32 medical conditions tested by Eli, a supplemental newborn screening service.

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What is Eli?

Eli is a service that screens for 32 conditions beyond those for which states typically test newborns. All of the conditions for which Eli tests are treatable, and people who have them can benefit from early intervention. The process is simple:

  1. A family orders the Eli kit online, answering health questions as part of the process.
  2. A physician reviews the material and prescribes the test for the family.
  3. The family’s pediatrician collects the necessary sample, which is sent to the Eli lab for testing.
  4. The test results are provided to the family, including a full report and access to genetic counseling.
  5. Newborn screening genetic counselors help families understand their lab results and answer questions about any genetic issues that the family may be facing.

Eli focuses on helping families deal with inherited conditions before these conditions create problems for children. To take advantage of this service , call (833) 354-1234 or visit