PubMed · 14400072
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G M HART. 1960. Trigger thumb.. https://pubmed.ncbi.nlm.nih.gov/14400072/
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Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make whole-genome association studies more feasible. Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.
Information from the human genome sequence will eventually alter many aspects of clinical practice. It will increase through our understanding of disease mechanisms, and guide the development of new drugs and therapeutic procedures. In the short term, however, knowledge of the genome will have a profound clinical impact on the diagnostic capability of clinical genetics laboratories. Molecular phenotyping using genetic and genomic information will allow early and more accurate prediction and diagnosis of disease and of disease progression. Medicine will become oriented towards disease prevention rather than efforts to cure people at late stages of illness.