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

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 approximate to 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.

Automated summary

Even in the post genomic era, some developing countries, including Pakistan, do not have national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs). Lack of technical expertise, high-end omics based analytical facilities, and meager funding for healthcare are the main reasons for the unavailability of NBS programs. This overview emphasizes the need for NBS programs in developing countries like Pakistan, where a significant population and consanguinity rate exist, by highlighting the potential benefits for IEM patients and society.