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Newborn Screening and Lifelong Medical Nutrition Therapy

Every day babies are screened for several genetic disorders by taking a small amount of blood from their heel. While this small heel prick is quick and often overlooked in the midst of the excitement of a newborn baby, the newborn screening process is considered one of the greatest accomplishments in modern-day public health1. Though the list of disorders to screen for varies by state, newborn screening is mandated in all 50 states and is advised to follow the Recommended Uniform Screening Panel (RUSP). The RUSP was developed and is maintained by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children2. Newborn screening not only saves lives3 but is extremely important for the prevention of physical and intellectual disability throughout the lifespan.

One of the most common genetic disorders identified by newborn screening is phenylketonuria or PKU. PKU is an inherited metabolic disorder that affects the way the body digests protein. Because protein is found in the majority of foods in a standard diet, people with PKU have to follow a strict diet made up of specialized medical foods, formulas, dietary supplements, and foods naturally low in protein like fruits and vegetables. This rare disorder requires lifelong diet management and monitoring to prevent poor health outcomes. If an individual with PKU has consumed too much phenylalanine (Phe), it builds up in their blood and can cause both physical and intellectual delays, often affecting one’s ability to have success in school, work, and relationships4. While treatment with medical foods is critical for day-to-day functioning and overall health, access to this treatment is not always easy.

Although access to medical foods is mandated to be covered to some extent by insurance in more than 75% of the United States, several states are still without universal coverage, Georgia being one of them5. In 2016, the Emory University Department of Human Genetics and Georgia Department of Public Health teamed up to start the Medical Nutrition Therapy for Prevention program (MNT4P) to support patients with inherited metabolic disorders who are affected by this coverage gap. The goal of MNT4P is to provide predictive, preventive, and personalized medical nutrition therapy by facilitating dynamic pathways of nutrition care at diagnosis (newborn screening) and throughout the lifecycle. In order to achieve that goal, this program provides medical foods, low-protein modified foods, dietary supplements, nutrition education, insurance navigation, and additional related services to patients in Georgia who are unable to obtain them through typical avenues, regardless of age and income status.

References:

  1. https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm
  2. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html
  3. https://mchb.hrsa.gov/sites/default/files/mchb/MaternalChildHealthTopics/Perinatal/NBS%20Report.pdf
  4. https://ghr.nlm.nih.gov/condition/phenylketonuria
  5. https://npkua.org/Take-Action/State-Coverage

Mary Lauren Salvatore

Department of Human Genetics/Southeast Regional Genetics Network (SERN) at Emory University
Mary Lauren Salvatore, MPH, CHES

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