Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2024.65.261
Genomic sequencing for newborn screening: current perspectives and challenges
Nidhi Shah
orcid.org/0000-0003-0851-8376
; Dartmouth Health, Lebanon, NH, USA
Petar Brlek
orcid.org/0000-0001-8022-4095
; St. Catherine Specialty Hospital, Zagreb, Croatia
*
Eva Brenner
; St. Catherine Specialty Hospital, Zagreb, Croatia
Vedrana Škaro
orcid.org/0000-0002-8275-867X
; Greyledge Europe Ltd, Zagreb, Croatia
Andrea Skelin
; St. Catherine Specialty Hospital, Zagreb, Croatia
Petar Projić
; International Center for Applied Biological Sciences Ltd (ICABS), Zagreb, Croatia
Parth Shah
; Dartmouth Health, Lebanon, NH, USA
Dragan Primorac
; St. Catherine Specialty Hospital, Zagreb, Croatia
* Dopisni autor.
Sažetak
Traditional newborn screening (NBS) serves as a critical
tool in identifying conditions that may impact a child’s
health from an early stage. Newborn sequencing (NBSeq),
the comprehensive analysis of an infant’s genome, holds
immense promise for revolutionizing health care through
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out the lifespan. NBSeq allows for early detection of ge
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netic disease risk and precision personalized medicine. The
rapid evolution of DNA sequencing technologies and in
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creasing affordability have spurred numerous endeavors
to explore the potential of whole-genome sequencing in
newborn screening. However, this transformative poten
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tial cannot be realized without challenges. Ethical aspects
must be carefully navigated to safeguard individual rights
and maintain public trust. Moreover, genomic data inter
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pretation poses complex challenges due to its amount,
the presence of variants of uncertain significance, and the
dynamic nature of our understanding of genetics. Imple
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mentation hurdles, including cost, infrastructure, and spe
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cialized expertise, also present barriers to the widespread
adoption of NBSeq. Addressing these challenges requires
collaboration among clinicians, researchers, policymakers,
ethicists, and stakeholders across various sectors. Robust
frameworks for informed consent, data protection, and
governance are essential. Advances in bioinformatics, ma
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chine learning, and genomic interpretation are crucial for
translation into actionable clinical insights. Scalability and
improving downstream health care access are vital for eq
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uitability, particularly in underserved communities. By fos
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tering interdisciplinary collaboration, advancing technol
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ogy and infrastructure, and upholding ethical principles,
we can unlock the full potential of NBSeq as a tool for pre
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cision medicine and pave the way toward a future where
every child has the opportunity for a healthier, genomicsinformed start to life.
Ključne riječi
Hrčak ID:
332057
URI
Datum izdavanja:
16.6.2024.
Posjeta: 46 *