Newborn Screening

Rare genetic disease and the diagnostic odyssey: a caregiver’s journey

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In December 2021, Arihai Greene was born with signs of Prader-Willi syndrome (PWS), a rare and serious genetic disorder that includes a complex spectrum of cognitive, behavioural and developmental problems. In this session, his father will discuss the diagnostic odyssey, including the emotional experience of navigating the Singapore healthcare system and coping with a PWS […]

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Angelman syndrome caregiver shares benefits of early diagnosis

Angelman caregiver highlights benefits of early diagnosis_thumb

  With the advent of newborn screening tests (NBS) for Angelman syndrome, a rare genetic condition that causes serious neurodevelopmental challenges, patients and caregivers may soon have new tools for achieving early diagnosis [1]. The clinical utility and cost-effectiveness of these tests are still being evaluated [2], but they raise hope that more Angelman patients

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Dr Phil Reilly on newborn screening: past, present and future

Dr Phil Reilly on newborn screening: past, present and future

Dr Phil Reilly is a physician, clinical geneticist, biotech entrepreneur, venture capitalist and author with deep experience in rare disease diagnostics, including newborn screening (NBS). In this Q&A with Will Greene, Healthcare Engagement Manager and Project Strongbow Co-Lead at Roche Diagnostics Asia Pacific, we learn more about the history and future of NBS technologies in

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Newborn screening in Taiwan: Q&A with Dr Yin-Hsiu (Nancy) Chien

Newborn screening in Taiwan: Q&A with Dr Yin-Hsiu (Nancy) Chien

As Director of the Newborn Screening Centre at National Taiwan University Hospital, Dr Yin-Hsiu (Nancy) Chien is at the forefront of Taiwan’s newborn screening (NBS) efforts. In this Q&A, we speak with Dr Chien about how NBS works in Taiwan, drawing upon her experience as a clinician-researcher and lab director to explore key considerations around

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How Early Check shapes newborn screening policy with better evidence

How Early Check shapes newborn screening policy with better evidence

  Newborn screening (NBS) is an important tool to improve human health—particularly for children with rare diseases who might benefit from early intervention. Yet in many countries, it can take years to generate the data and build the infrastructure necessary to add new conditions to NBS panels. In the United States, health policymakers face an

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Should newborn screening include chromosome 15q disorders?

Should newborn screening include chromosome 15q disorders?

With the advent of low-cost methods to test for three common chromosome 15q disorders—Prader-Willi syndrome (PWS), Angelman syndrome, and Dup15q—researchers in several countries are now evaluating their use in newborn screening (NBS) panels. Various studies are currently underway that will provide data on the practicality, clinical utility and cost-effectiveness of this approach. In the United

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