Genetics to Genomics in Clinical Medicine
Journal Title: Journal of Advances in Medicine and Medical Research - Year 2014, Vol 4, Issue 30
Abstract
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.
Authors and Affiliations
Vinit Sawhney, Richard Schilling, Benjamin O. Brien
Keywords
Related Articles
- EP ID EP349015
- DOI 10.9734/BJMMR/2014/11175
- Views 75
- Downloads 0
Rhinal Snuff: A Possible Gateway for Sinonasal Malignancy
Aim: To present a case report of malignancy of maxillary antrum invading the oral cavity associated with the habit of nasal snuff. Presentation of Case: We describe here a case of a 40-year-old man who developed malignan...
Gender Satisfaction among Type 2 Diabetes Patients: A Comparison between Intensive Diets, Lifestyle Intervention with Medication Controlled Management
Background: Exactly when to initiate insulin in recent onset Type 2 Diabetes Mellitus (T2DM) remains unclear. Emerging evidence suggests that increased physical activity and weight loss can delay or prevent the onset of...
The Role of Diffusion Weighted Magnetic Resonance Imaging in the Differential Diagnosis of Hepatocellular Carcinomas and Regenerative-Dysplastic Nodules in Cirrhotic Liver
Objective: The differential diagnosis of hepatocellular carcinomas (HCC) and regenerative-dysplastic nodules (RDN) in cirrhotic patients is critical for patient management and can be a challenging imaging procedure. The...
The Regulation of Proprotein Convertase Subtilisin/ Kexin Type 9 and Its Liver Involvement
Introduction: Anti-proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies have been very effective to lower low-density lipoprotein (LDL)-cholesterol. They attracted the attention on PCSK9 enzyme role in multip...
Blood Cholinesterase Level and Learning Ability of Primary School Children in an Agricultural Village, Tanjung Karang, Malaysia
Objective: The widespread use of organophosphate (OP) insecticides in paddy fields has led to human exposure. The aim of this study was to determine the relationship between blood cholinesterase concentrations with the c...