Consulting the source code: prospects for gene-based medical diagnostics

Gene-based diagnostics has been slow to enter medical routine practice in a grand way, but it is now spurred on by three important developments: the t otal genetic informational content of humans and most of our pathogens is r apidly becoming available; a very large number of genetic factors of diagno stic value in disease are being identified; and such factors include the id entity of genes frequently targeted by mutations in specific diseases, comm on DNA sequence variants associated with disease or responses to therapy, a nd copy number alterations at the level of DNA or RNA that are characterist ic of specific diseases. Finally, improved methodology for genetic analysis now brings all of these genetic factors within reach in clinical practice. The increasing opportunities for genetic diagnostics may gradually influenc e views on health and normality, and on the genetic plasticity of human bei ngs, provoking discussions about some of the central attributes of genetics .