The Rare Bleeding Disorders Network

Utility of next generation sequencing for diagnosing and managing genetic disease in developing countries

A new article has been published in the European Journal of Human Genetics, discussing the role of next generation sequencing (NGS) as a diagnostic and management tool for critically ill children with a suspected genetic disorder, particularly in developing countries.

As NGS-based techniques continue to be developed and refined, they show promise for diagnosing and evaluating genetic disorders in critically ill infants and children. However, data on its utility in developing countries remains limited. In this study, the authors analysed the use of NGS on children with a suspected genetic disorder requiring critical care at a hospital in Northern India. They assessed the diagnostic rate of these strategies, as well as the clinical impact on patient management.

The study led to a precise molecular diagnosis in 32 patients out of the total cohort of 70. Of these, a significant change in clinical outcome was observed in 13 cases. These changes resulted from various modifications to treatment plans, including a change in medication, specific dietary management, redirection to palliative care, avoidance of a major procedure, and better reproductive counselling.

One of the main limiting factors to using NGS in this and similar contexts observed by the study was the delay in turn-around time for sequencing results. Due to resource constraints, rapid and ultra-rapid sequencing was not available in the study hospital. This is representative of conditions in the majority of healthcare settings in developing countries.

Overall, despite this challenge, the study still found that NGS has great utility for managing critically ill patients with suspected genetic disorders in developing countries. This is largely due to the clinically significant impact of being able to achieve a precise molecular diagnosis.