Chief Guest 9M CME  

Chapter on Genomic Fertility Analysis for personalised ART in the book Manual of Assisted reproductive Technologies and Laboratory (2025).

The chapter provides recent advancements in genomics and genome-wide association studies of different population groups that have identified thousands of single nucleotide variants (SNVs) in hundreds of genes associated with infertility, recurrent implantation failures and pregnancy losses. Genomic fertility analysis integrates all the published evidence through GeneFeminaTM and GeneAndroTM and offers the best possible diagnostic yield and identification of genomic root cause for multiple infertility phenotypes. With available pharmacogenomic implications, it paves way for personalised treatment of infertility and enhanced success rate in ART clinics.

A study published in the American Journal of Human Genetics investigated the prevalence and impact of nonsense single nucleotide polymorphisms (SNPs) in the human genome. These variants introduce premature stop codons, potentially leading to truncated, nonfunctional proteins. By genotyping 805 nonsense SNPs across 1,151 individuals from 56 populations, researchers identified 169 genes with variable nonsense SNPs, with 99 genes showing inactivation in at least one individual. On average, individuals differed by 24 genes due to these SNPs alone. While most nonsense SNPs are slightly disadvantageous over evolutionary timescales, some may be advantageous, indicated by high population differentiation and frequency.