Publications by authors named "Ricky Price"

A greater number of screened conditions is often considered to equate to better screening, whereas it may be due to conditions being counted differently. This manuscript describes a harmonised Australasian approach to listing target conditions found on bloodspot screening panels. Operational definitions for target disorders and incidental findings were developed and applied to disorder lists.

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Objectives: Since its implementation 50 years ago in Quebec, Canada, newborn screening for congenital hypothyroidism has become one of the most successful public health measures worldwide. Screening programmes across Australia and New Zealand are characterised by significant commonalities in screening algorithms, and a high degree of regional cooperation in harmonisation efforts. We aimed to conduct a comprehensive survey of current performance and practices related to the total testing process for congenital hypothyroidism screening and provide recommendations for harmonisation priorities within our region.

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Article Synopsis
  • The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
  • Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
  • As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.
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