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Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing
Muhammad Wasim1,2,3, Haq Nawaz Khan1,2,3, Hina Ayesha4
1Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Jhang Road, Faisalabad, 38000, Pakistan.
Advanced Biology
|April 5, 2023
Summary
Newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are lacking in developing nations like Pakistan. Implementing NBS can enable early diagnosis and treatment, improving patient outcomes and reducing healthcare burdens.
Area of Science:
- Biochemistry
- Genetics
- Public Health
Background:
- National newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are absent in many developing countries, including Pakistan.
- Pakistan's large population and high consanguinity rate suggest a significant unmet need for IEM screening.
- Limited healthcare funding and lack of technical expertise hinder the implementation of advanced 'omics' based NBS programs.
Purpose of the Study:
- To highlight the critical need for establishing national newborn screening (NBS) programs for inborn errors of metabolism (IEMs) in developing countries.
- To advocate for the implementation of NBS programs in Pakistan, emphasizing their benefits for early diagnosis and treatment of IEMs.
- To persuade stakeholders about the socioeconomic advantages of NBS, including improved patient quality of life and reduced healthcare system burden.
Main Methods:
- Review of current practices and challenges in newborn screening globally.
- Analysis of the prevalence and impact of IEMs in developing countries, with a focus on Pakistan.
- Discussion of targeted metabolomics and genomic techniques applicable to NBS.
Main Results:
- A significant gap exists in NBS availability in developing countries, despite the treatable nature of many IEMs.
- Pakistan, with a high consanguinity rate, likely has a substantial burden of undiagnosed IEMs.
- Early diagnosis through NBS can lead to near-normal life outcomes for affected individuals.
Conclusions:
- Establishing national NBS programs is crucial for addressing the unmet need for IEM diagnosis in developing countries.
- The implementation of NBS programs offers substantial benefits, including improved health outcomes and reduced societal costs.
- Stakeholder engagement and investment are essential to overcome barriers and set up effective NBS programs in Pakistan and similar nations.
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