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Paving The Way In Implementation Of Scid Newborn Screening In Developing Nations: Feasibility Study And Strategies To Move Forward In Malaysia.

Home
Research Domains
Health Sciences
Public Health
Preventative Health Care
Paving The Way In Implementation Of Scid Newborn Screening In Developing Nations: Feasibility Study And Strategies To Move Forward In Malaysia.

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Paving the way in implementation of SCID newborn screening in developing nations: feasibility study and strategies to move forward in Malaysia.

Gaayathri Kumarasamy¹, Khayrin Khairiz¹, Wai Leng Chang^2,3

¹Arcadia Life Sciences, Hive 5, Taman Teknologi Malaysian Research Accelerator for Technology & Innovation (MRANTI), Bukit Jalil, Kuala Lumpur, Malaysia.

Frontiers in Immunology

|July 10, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Early diagnosis of primary immunodeficiency diseases (PIDs), especially severe combined immunodeficiency (SCID), is vital. Newborn screening (NBS) using TREC/KREC assays aids early detection, but requires funding and collaboration for effective management.

Keywords:

PID SCID implementation neonatal

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Area of Science:

Immunology
Genetics
Public Health

Background:

Primary immunodeficiency diseases (PIDs), including severe combined immunodeficiency (SCID), lead to significant morbidity and mortality.
Early diagnosis and management are critical for improving patient outcomes.
Newborn screening (NBS) is a key strategy for early detection of PIDs.

Purpose of the Study:

To highlight the importance of early diagnosis and management of PIDs, particularly SCID.
To emphasize the role of NBS in facilitating timely detection and intervention.
To identify challenges and propose solutions for effective NBS implementation for PIDs.

Main Methods:

Utilizing screening assays such as T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC).

Implementing comprehensive protocols for NBS.

Analyzing the need for clinical expertise and strategic implementation.

Main Results:

NBS, utilizing TREC/KREC assays, is essential for early SCID and PID diagnosis.
Timely diagnosis enables prompt isolation and treatment, like hematopoietic stem cell transplantation.
Insufficient funding for PID treatment poses a significant challenge.

Conclusions:

A collaborative approach involving technological advancements, healthcare systems, and stakeholders is imperative.
Enhancing NBS for PIDs requires synergy between technology, healthcare professionals, and government.
Improved NBS efficiency and effectiveness will lead to better outcomes for individuals with PIDs.