当前位置： SCI文献检索 > CLINICAL GENETICS期刊下所有文献 > Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist?

Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist?

Abstract：

:Adverse drug reactions, due at least in part to interindividual variability in drug response, rank between the 4th and 6th leading causes of death in the USA. The field of 'pharmacogenetics', which is 'the study of variability in drug response due to heredity', should help in reducing drug-caused morbidity and mortality. The recently coined term 'pharmacogenomics' usually refers to 'the field of new drug development based on our rapidly increasing knowledge of all genes in the human genome'. However, the two terms - pharmacogenetics and pharmacogenomics - are often used interchangeably. A classification of more than five dozen pharmacogenetic differences is presented here. Most of these variations occur in drug-metabolizing enzyme (DME) genes, with some presumed to exist in the DME receptor and drug transporter genes, and others have not yet been explained on a molecular basis. A method for unequivocally defining a quantitative phenotype (drug efficacy, toxicity, etc.) is proposed; this is where help from the clinical geneticist can be especially important. Our current appreciation of the degree of variability (including single-nucleotide polymorphisms, SNPs) in the human genome is described, with emphasis on the need to prove that a particular genotype is indeed the cause of a specific phenotype; this topic has been termed 'functional genomics'. Furthermore, the current amount of admixture amongst almost all ethnic groups will obviously make studies of gene-drug interactions more complicated, as will the withholding of ethnic information about DNA samples during any molecular epidemiologic study. DME genes and DME receptor and drug transporter genes can be regarded as 'modifier genes', because they influence disorders as diverse as risk of cancer, bone marrow toxicity resulting from occupational exposure, and Parkinson's disease; for this reason, the clinical geneticist, as well as the medical genetics counselor, should be knowledgeable in the rapidly expanding fields of pharmacogenetics and pharmacogenomics.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Nebert DW

doi

10.1034/j.1399-0004.1999.560401.x

subject

Has Abstract

pub_date

1999-10-01 00:00:00

pages

247-58

issue

eissn

0009-9163

issn

1399-0004

journal_volume

pub_type

历史文章,杂志文章,评审

在线工具

Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical geneticist?