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
Connect With Us
Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”
Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios.
DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And the Graphic Designer of our logo is Ashlyn Enokian, MS, CGC.
See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.