Translating Advances in Genomic Research into Clinical Practice: The Challenges Ahead
evidence in support of the genetic elements of diseases, leaves clinicians at the other end of the translation highway with the difficulty of drawing meaningful, reproducible and categorical conclusions, and hence they are unable to use the data clinically. For research and technical advances, one always hopes that there will be actual application of the findings. Not surprisingly, therefore, the translation from ‘bench to bedside’ of genome-related basic research also faces tremendous challenges. Before really summarizing the challenges, one may have to stop and think if this research has the potential to be converted into clinical practice at all. For multifactorial disorders like type 2 diabetes, obesity, polycystic ovary syndrome, autoimmune thyroid disease, hypertension or mood disorders, the record of genetic linkages and subsequent translation for disease prevention by adopting these into clinical practice has been far less productive through conventional routes of causal gene discovery. This was primarily because the magnitude of the effects of a single gene variation on susceptibility to these multifactorial diseases is too subtle to make any inferences and link a gene to a disease, which would have allowed detection by traditional single genesingle disease linkage approaches. This is where the Human Genome Project and related high-profile genomic Ever since the discovery of the double helix model for DNA structure, there has been tremendous euphoria about the impact of DNA on human health. About 10 years ago, when the draft of the human genome sequence was announced, expectations about genomic medicine were further raised [1] , despite the realization that the real impact on medicine and health care would happen as a function of decades and not in real time. The Human Genome Project inspired several related collaborative efforts that supplemented cumulative knowledge on the genome-wide association of novel gene variants, gene modifications or alternate chromosomal loci with common diseases and disorder phenotypes. Careful examination of the available microarray data and identification and comparison of single nucleotide polymorphisms (SNPs) between patients and healthy populations have led to associations of many gene variants that so far were not suspected to be related to the phenotypes [2] . Basic understanding of human genes and proteins involved in the disease pathway and screening of mutations in critical enzyme(s) (mostly SNPs), and their association with disease predisposition [3] , represent a significant advancement of genome research. The logarithmic growth of new ‘omics’ technologies, while quenching the thirst for knowledge of basic scientists who need unprejudiced Received: August 20, 2010 Accepted: November 29, 2010