James R. Bonham

Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study

Louise Moody, Samantha Clarke, Matt Compton, Rachael Hughson-Gill et autres

BACKGROUND: Newborn screening aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the newborn screening program following evaluation of the likely benefits and drawbacks. To inform these decisions, it is important …

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Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study (Preprint)

Louise Moody, Samantha Clarke, Matt Compton, Rachael Hughson-Gill et autres

BACKGROUND Newborn screening aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the newborn screening program following evaluation of the likely benefits and drawbacks. To inform these decisions, it is important …

2023 APHL/ISNS Newborn Screening Symposium

Richard S. Olney, James R. Bonham, Peter C. J. I. Schielen, Dara Slavin et autres

Introduction and Abstracts of the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, CA, USA from 15-19 October 2023.

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Genomic newborn screening: Are we entering a new era of screening?

Ute Spiekerkoetter, David Bick, Richard H. Scott, Henrietta Hopkins et autres

Population newborn screening (NBS) for phenylketonuria began in the United States in 1963. In the 1990s electrospray ionization mass spectrometry permitted an array of pathognomonic metabolites to be identified simultaneously, enabling up to 60 disorders to be recognized with a single test. …

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Newborn Screening in a Pandemic—Lessons Learned

Matej Mlinarič, James R. Bonham, Viktor Kožich, Stefan Kölker et autres

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start …

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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

Giancarlo la Marca, Rachel S. Carling, Stuart J. Moat, Raquel Yahyaoui et autres

In 1963, Robert Guthrie's pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS became firmly established as a part of …

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Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey.

Tze Ping Loh, Ronda F. Greaves, Chloe Miu Mak, Gajja S. Salomons et autres

Objective: Pediatric laboratory medicine is a unique practice serving a vulnerable group of patients including highly specialized testing aiming to detect and treat inherited conditions early to avoid adverse outcomes. Data on the actual impact of COVID-19 pandemic on this speciality is …

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Co-designed strategies for delivery of positive newborn bloodspot screening results to parents: the ReSPoND mixed-methods study

Jane Chudleigh, Pru Holder, Francesco Fusco, James R. Bonham et autres

Background Newborn bloodspot screening identifies presymptomatic babies who are affected by genetic or congenital conditions. Each year, around 10,000 parents of babies born in England are given a positive newborn bloodspot screening result for one of nine conditions that are currently screened …

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A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis

Suzannah Kinsella, Henrietta Hopkins, Lauren B. Cooper, James R. Bonham

Cystic fibrosis (CF) has been included within the UK national newborn screening programme since 2007. The approach uses measures of immunoreactive trypsin (IRT) in dried blood spot samples obtained at day 5 of life. Samples which reveal IRT results >99.5th centile go …

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Towards Achieving Equity and Innovation in Newborn Screening across Europe

Jaka Šikonja, Urh Grošelj, Maurizio Scarpa, Giancarlo la Marca et autres

Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if …

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Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study

Jane Chudleigh, Lynette Shakespeare, Pru Holder, Holly Chinnery et autres

BACKGROUND: Each year in England, almost 10,000 parents are informed of their child's positive newborn bloodspot screening (NBS) results. This occurs approximately 2 to 8 weeks after birth depending on the condition. Communication of positive NBS results is a subtle and skillful …

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Delivering Positive Newborn Screening Results: Cost Analysis of Existing Practice versus Innovative, Co-Designed Strategies from the ReSPoND Study

Francesco Fusco, Jane Chudleigh, Pru Holder, James R. Bonham et autres

Although the communication pathways of Newborn Bloodspot Screening (NBS) are a delicate task, these pathways vary across different conditions and are often not evidence-based. The ReSPoND interventions were co-designed by healthcare professionals alongside parents who had received a positive NBS result for …

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