Next-Generation Technologies for Rare Inherited Disorders

Rare inherited disorders have become a major public health concern in recent years. Owing to a lack of resources, poorly planned primary and basic health care, and inadequate political structures, treatment, and management policies are daunting challenges in many countries. As a result, these diseases need particular attention, especially in less developed areas, where these disorders remain unnoticed. Similarly, the effect of such severe disorders on underprivileged populations is expected to be devastating. Identifying certain genetic markers can provide a valuable explanation for disease etiology, molecular characterization, and pathogenesis. In this chapter, we highlight the importance of next-generation sequencing to explore and recognize the role of novel causative genes in developing successful treatments for the most prevalent rare genetic disorders. DNA methylation and transcriptome markers have been shown to aid in the prediction of common diseases; however, this has not been tested on rare genetic disorders. Since the rate of rare inherited disorders is higher in developing countries, we believe that these populations can provide us with much stronger clues for the genetic and environmental association. These markers, along with other parameters, can be used to systematically build machine learning models to improve risk prediction; this approach has the potential to reshape how we predict disease risk and save many lives around the world.

Keywords: Clinical genomics, Genetic counseling, Next-generation sequencing, Prenatal diagnosis, Rare inherited diseases.