#399 How PKU Changed Newborn Screening Forever

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life.

In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU.

We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards.

Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care.

Thank you to PTC Therapeutics for sponsoring this three-part series on PKU.

Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice.

Episode Discussion Topics

• Why PKU helped launch newborn screening in the United States
• What life was like for individuals with PKU before newborn screening
• How PKU affects the body on a metabolic level
• The role of phenylalanine hydroxylase deficiency
• Why elevated phenylalanine levels can impact brain development
• Dr. Robert Guthrie’s role in developing newborn screening
• The history and significance of the Guthrie card
• Sarah’s experience learning her daughter’s newborn screen was flagged for PKU
• What confirmatory testing and early treatment looked like for Izzy
• How newborn screening panels vary across states
• What the Recommended Uniform Screening Panel, or RUSP, is
• Gaps in access to medical formula and low-protein medical foods
• Why insurance coverage remains a major challenge for families
• The promise and concerns around newborn sequencing
• How clinicians can better support newly diagnosed families
• Why connecting families with community early can be life-changing
• The need for more metabolic geneticists, genetic counselors, and dietitians

Guest Bios

Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders.

Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor.

Resources

• PKU / Phenylketonuria
• Phenylalanine hydroxylase deficiency ACT Sheet
• The Newborn Screening Information Center (NBSIC)
• Recommended Uniform Screening Panel, or RUSP
• RUSP overview for families
• ACMG Newborn Screening ACT Sheets and Algorithms
• flok health
• Baby’s First Test: Newborn Screening Information
• National PKU Alliance
• Guthrie-Kock Scholarships from flok
• David’s story of learning of an older brother with PKU who was institutionalized

Referenced DNA Today Podcast Episode

• #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

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