Future diagnostics in male infertility: genomics, epigenetics, metabolomics and proteomics

A male factor is involved in 50% of couples with infertility. Unfortunately, the etiology of male factor infertility remains classified as idiopathic in nearly 50% of cases. The semen analysis (SA) continues to be first line for the workup of male infertility, but it is an imperfect test with high variability between samples. This lack of diagnostic capability has led to the desire to develop minimally invasive tests to aid with understanding the etiology of male factor infertility. Genetic factors are known to play a role in male infertility, and much work has been done to identify the many genes involved. The study of the genes involved, the impact of epigenetic modifications, proteins and metabolites produced are attractive targets for development of biomarkers which may be used to diagnose the etiology of male infertility. This review aims to explore recent advances in these fields as they pertain to the diagnosis of male infertility.