Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries

Abstract

Even in this post genomic era, no national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are yet available in several developing countries including Pakistan. Through NBS, various IEMs can be screened using minute quantities of biofluids. Targeted metabolomics and genomic techniques are the main approaches used for NBS. However, lack of technical expertise and such high-end "omics" based analytical facilities, and meager funding for healthcare in developing countries are the major reasons for unavailability of NBS programs. As it is reflected by only a handful reports about IEMs from Pakistan with population of ≈220 million and consanguinity rate of about 70%, which suggests an unmet need for an NBS program owing to reasonably high prevalence of inherited diseases. Around 200 IEMs are potentially treatable if diagnosed at an earlier stage through biochemical marker and genetic screening, so such patients can get benefit from the NBS program. This overview will help to persuade the stakeholders to setup NBS programs in developing countries including Pakistan, due to multitude of benefits for IEMs; timely diagnosis and early treatment can help the patients to live a nearly healthy life, reduced suffering of the family and minimal burden on society or national healthcare system.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Only one prefecture, Sindh, in the southeast has an NBS law to establish and integrate a sustainable NBS system within the public health delivery system, which became operational in all 29 Sindh districts on 1 January 2020 [ 614 ]. Several reviews of NBS operations and their impact on implementation in Pakistan have recently been published: a review of CH and the high burden of disease in Pakistan supporting a national NBS program [ 615 ]; a systematic review of CH and a plan for NBS implementation in Pakistan [ 616 ]; suggestions as to how a NBS system might best be organized and the conditions that might be a part of a Pakistan screening panel with CH as a prototype and then extending the panel to include CAH, BIO, GAL, G6PDD, SCD, [ 617 ]; and a review of why and how screening systems are configured [ 618 ]. Encouraging the expansion of NBS efforts around the country, in 2019, Aga Khan University, in collaboration with the Pakistan Society of Chemical Pathology, organized a meeting of genetics researchers, pathologists, and child health specialists from public and private sector organizations to launch an advocacy group, the Pakistan Inherited Metabolic Disease Network (Pak-IMD-Net).…”

High‐performance liquid chromatography‐based assay optimization for the detection of plasma amino acids for applications in metabolic disorders in developing countries

“…Furthermore, it has been reported that amino acids are also involved in major depressive disorders that can be screened by amino acid profiling [34], so the current method can also help to screen such types of disorders. Thus, there is a need for an NBS program in developing countries like Pakistan because the main goal of the NBS program is to reduce the morbidity and mortality of different inborn metabolic disorders [35][36][37][38][39][40][41][42], so such sensitive and specific analytical methods will be helpful in these efforts. Efficient analytical methods like the one reported in the current study can be applied in the NBS program to identify affected children with diseases like BCAAs, PKU, Maple Syrup Urine Disease, Tyrosinemia type II, Citrullinemia type I and type II, etc.…”

Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)

“…Clinicians have become more knowledgeable in recent years about the pathophysiology, early diagnosis, and treatment of inherited metabolic diseases because of advances in genetics and biochemistry [3][4][5]. Early diagnosis and treatment's positive contribution by the recently increasing number of studies gives rise to survival, reduces morbidity in inherited metabolic diseases, and causes the introduction and increase of prenatal diagnosis methods and postnatal screening programs to diagnose these diseases [6][7][8][9]. Sir Archibald Garrod described the first inherited metabolic disease in 1908 as alkaptonuria [10].…”