DNA: where to now?
Year: 2007
Type: article
Abstract: There has been great promise and expectation for the use of DNA technology in all areas of diagnostic pathology, but its use has not been widely realised. However, there are some notable success stories such as forensic DNA profiling, the identification of bacteria and viruses, human leucocyte antigen typing for organ donation, diagnosis of thalassaemias, blood borne cancers, familial breast and bowel cancer risk prediction and many monogenic diseases. DNA analysis has not reached a state of development where it is widely used for the clinical diagnosis of common complex diseases. Considerable progress has been made in the area of tumour tissue genetics for the characterisation and management of tumour subtypes.1 The technology used for this type of analysis requires further refinement such as standardisation of methodology and validation of techniques before it can be widely used clinically. Pharmacogenomics has held great promise for a number of years but it still has not delivered except for assays such as thiopurine methyltransferase and cholinesterase genotyping for scoline apnoea. It is, however, widely expected that significant developments in this area will be achieved. In the United States the Federal Drug Administration has identified as a priority area the synchronous co-development and approval of therapeutic (mainly oncology) materials in conjunction with pharmacogenomics. There are a number of these applications in the regulatory pipeline.
The purpose of this review is two fold, firstly to demonstrate how molecular biology has improved our understanding of three genetic diseases: Huntington’s disease, cystic fibrosis and hereditary haemochromatosis. These diseases are discussed to show that each is different from the point of view that being a carrier of the disease mutations will cause clinical disease (Huntington’s disease), will affect the severity of the disease (cystic fibrosis) or even if the disease is present (hereditary haemochromatosis). Secondly, to present information on how genetics may be used in the future to determine susceptibility for the development of common complex diseases.
Source: PubMed
Author: John Beilby
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1772694659