A brief summary of human molecular genetic techniques for clinical psychiatrists

Abstract

Concerted and systematic efforts to understand genetics of human health and disease over the preceding 60 odd years have witnessed remarkable progress. The incremental gains through this journey were enabled by chromosomal analysis, recombinant deoxyribonucleic acid (DNA) techniques, notable discovery of single nucleotide polymorphisms following the Human Genome Project, consequent genome-wide variant-based studies, and now whole genome sequencing with ultimate diagnostic potential. Of note, success in prediction and prevention of chromosomal and single gene disorders comprising ~six to eight per cent each of all genetic disorders have been unprecedented but uncovering genetics of common complex disorders conferring ~60% of the genetic disease burden continues to pose a challenge and await new analytical paradigms - a mix of reductionist and organismal biology together with artificial intelligence and machine learning approaches being the current trend. A brief account of this path of progress in medical genetics and genomic insights along with limitations, to achieve the overarching goals of predictive, preventive, personalised, and participatory medicine is presented in this article.