Evidence vs adoption in PKU monitoring: Understanding the implementation gap

Wednesday April 15th, 2026 - 11am ET, 4pm GMT, 5pm CET

Register Now

Simple steps that can be taken to improve the PKU patient pathway.

This webinar explores the monitoring of phenylalanine and tyrosine in patients with phenylketonuria, outlining the pre‑analytical and analytical limitations of the current dried blood spot (DBS) testing. It presents evidence‑based solutions to reduce variability and improve sample quality, including the introduction of modern sample collection devices. The session will touch on the patient’s views of the new sample collection devices, before addressing the central conundrum: why this solution remains difficult to implement despite clear scientific and practical benefits.

Of interest to scientists, clinicians, dietitians, patient representatives.

What you will learn

  • Background to monitoring DBS phenylalanine and tyrosine in patients with phenylketonuria.
  • The pre-analytical and analytical challenges associated with the current lab tests.
  • Evidence-based solutions to these challenges.
  • The patient perspective.
  • The conundrum of clinical implementation.

Speakers

Rachel Carling

Director, Biochemical Sciences, Synnovis

Rachel Carling graduated with a first class honors degree in Chemistry from Manchester University in 1996. She then gained a PhD in Analytical Chemistry before moving to Leeds and training as a Clinical Biochemist. She chose to specialize in metabolic biochemistry because of her interest in analytical techniques and became one of eight Higher Specialist Trainees in Metabolic Biochemistry, obtaining FRCPath in 2007. Rachel is now a Consultant Clinical Scientist at Synnovis, Guy’s & St Thomas’ Hospital where she is Director of South East Thames Regional Newborn Screening Laboratory, Scientific Head of Service and Clinical Lead for Biochemical Sciences. She is also Chair of the UK Metabolic Biochemistry Network.

Her main area of interest is inherited metabolic disease with a particular focus on the application of tandem mass spectrometry to the measurement of small molecules. She is passionate about science, an advocate of A3 thinking and committed to service improvement.

Neil Spooner

Director Spooner Bioanalytical Solutions & Chair Patient Centric Sampling Interest Group

Neil is the Founder of Spooner Bioanalytical Solutions, helping companies to integrate biological fluid microsampling, and patient centric sampling and analysis into workflows. He also works with organizations to develop technologies and introduce them to the market. Neil also assists organizations with their understanding of emerging trends in the pharmaceutical industry and bioanalysis. Neil is a Senior Visiting Research Fellow at the University of Hertfordshire, Editor in Chief of the journal, Bioanalysis, Founder of the Patient Centric Sampling Interest Group and Co-Chair of the Reid Bioanalytical Forum. He has published over 70 peer reviewed manuscripts and delivered over 50 podium presentations.​​​​​​​

In association with