Muhammad Umair, Farooq Ahmad, Asmat Ullah.
Whole exome sequencing as a diagnostic tool for genetic disorders in Pakistan.
Pak J Med Res Jan ;57(2):90-1.

Different syndromic disorders presenting overlapping or atypical phenotypes sometimes lead to improper clinical diagnosis and thus resulting in unsatisfactory genetic counseling and treatment. Many of the rare variants are limited to certain ethnic or topographical populations. These population-specific variants (polymorphisms) are absent from public databases which also makes discovery and diagnosis difficult. NGS technologies, especially WES has emerged as an effective and powerful diagnostic tool when traditional genetic screening has failed. Particularly in Pakistan, NGS technology should be implemented in research institutes and hospitals, which will result in the establishment of NGS analysis pipelines and in-house database. WES, facility should be introduced in the major hospitals of Pakistan, where the physicians and the exome analysis team can work in collaboration. It will not only facilitate the physicians to make cost-effective genetic diagnosis in case of rare genetic disorders but also help to decrease the time of diagnosis, thus help on supportive care, genetic counseling, and treatment of the patient. In Pakistan, premarital and preconception counseling should be organized to assist the couple in decision making. Premarital screening tests should be arranged for all consanguineous marriage couples in health facilities. If the test results are positive, the couple should be evidently well-versed of the consequences. Applications of WES is not only limited to premarital testing, it is currently used in different fields such as DNA profiling, pharmacogenomics, personalized medicine, transcriptomics, cancer genetics and genetic counseling. Health professionals should promote the current policies and regulations of premarital screening for diseases like thalassemia and other syndromic and non-syndromic genetic disorders in Pakistan.

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