Bioanalysis science for mutations causing inherited predisposition to breast and ovarian cancer, Tuberose sclerosis, Incontinentia pigmenti, Stickler disease and Lynch syndrome are all carried out routinely by NGS. Further developments are in progress to introduce NGS to replace other existing molecular genetics and cytogenetic tests, and we aim to dramatically increase the number of genes and disorders that we can analyses using this technology in the very near future. Drug discovery is a highly complex and costly process, and in recent years, the pharmaceutical industry has shifted from traditional to genomics- and proteomics-based drug research strategies. The identification of druggable target sites, promising hits, and high quality leads are crucial steps in the early stages of drug discovery projects.