Genetics to Genomics in Clinical Medicine

摘要

Biomedical research and knowledge has grown exponentially since the completion of the Human Genome Project in the year 2000. There has been a gradual shift from ‘genetics’ (study of genes) to ‘genomics’ (study of the whole genome) in medicine. Advances such as sequencing of the human genome, genome enrichment, epigenetics and bioinformatics have transformed the face of translational research and are beginning to have a major impact on clinical practice. In order to take advantage of the full potential of genomic research in clinical practice, clinicians will need to understand and embrace a significant conceptual shift from ‘Mendelian genetics’ to ‘Post Mendelian genomics’. A relative lack of genetics to genomics knowledge has been reported amongst senior physicians in major health plans in the United States. This is also true of physicians practicing in the United Kingdom as reflected in the reports by the British Royal Society (BRS), Wellcome Trust and UK department of Health. While large sections of the academic medical community is driving this conceptual shift, a significant proportion of practicing clinicians are not actively involved in these developments. Here we describe the continuum from genetics to genomics in medicine by giving a brief overview of the shift from single gene disorders and chromosomal aberrations to functional genomics and our current understanding of the more dynamic relationship between genotype and phenotype.