The use of advanced genetic technologies in the diagnosis of reproductive disorders

Reproductive disorders and infertility are major health issues seen in about 10-15% of the couples. Such disorders are well- known for their impact on the social, medical, and economic burden of the individuals and the society as well. There is no doubt that, with the advances in technologies and the better understanding of the factors involved in developing these conditions, it has become possible to determine a great proportion of infertility causes in both men and women. However, still many couples receive the diagnosis of idiopathic infertility , leaving them with uncertainty and unknown prognosis which results in performing unnecessary expensive testing and care. Moreover, the failure to precisely identify the causes has a huge impact on the families, causing a subsequent emotional instability. In fact, majority of the idiopathic infertility is due to some sort of genetic mutations, and revealing them would require special testings. Whole exome sequencing (WES) is one of the powerful techniques that allow the identification of the underlying mutations. This test is complex but it generally involves four main steps which are library preparation, sequencing, bioinformatics and Interpretation. Understanding the concept of these steps and knowing the applied strategies are important to be able to pick up the underlying mutations. Furthermore, the available up-to-date techniques, like whole genome sequencing (WGS), is something that also worth mentioning.