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This Week in JAMA
November 14, 2001

This Week in JAMA

JAMA. 2001;286(18):2203. doi:10.1001/jama.286.18.2203

Edited by Jeanette M. Smith, MD, Catherine D. DeAngelis, MD, MPH, and Roger N. Rosenberg, MD

Genetic Contributions to Disease

Four research articles in this issue of THE JOURNAL report the identification of genetic risk factors for 3 common diseases. A complete genomic screen for linkage analysis in 174 families with at least 2 family members with idiopathic Parkinson disease (PD), conducted by Scott and colleaguesArticle, suggests that the parkin gene is influential in the development of early-onset PD and that several genes may be important in the development of late-onset PD. Martin and colleaguesArticle, using genetic linkage and positional association analyses, found an association between the tau gene and idiopathic PD. Athan and colleaguesArticle identified a Gly206Ala mutation in presenilin 1 in 8 of 19 unrelated Caribbean Hispanic families with early-onset familial Alzheimer disease. In mutation analyses of the cardiac sodium channel gene, SCN5A, in postmortem cardiac tissue from cases of sudden infant death syndrome or undetermined infant death, Ackerman and colleaguesArticle found that 2 of 93 cases had SCN5A channel mutations that increased late sodium current—a defect associated with risk for fatal arrhythmias.

Genetics and Drug Therapy

Identification of genetic determinants of an individual's response to drug therapy affords the possibility of selecting specific therapy likely to benefit an individual and of reducing adverse drug outcomes. Previously published results of the Breast Cancer Prevention Trial showed that among high-risk, cancer-free women who received prophylactic tamoxifen, the incidence of invasive breast cancer was reduced compared with the placebo group. In this analysis of data from participants in this trial, King and colleaguesArticle found that the incidence of breast cancer was reduced (nonsignificantly) among women with BRCA2 mutations who received tamoxifen compared with placebo, but not among women with BRCA1 mutations. In a systematic review of studies on adverse drug reactions (ADRs) and review articles on variant alleles of genes for drug-metabolizing enzymes, Phillips and colleaguesArticle found that 16 of 27 drugs commonly cited in ADR studies are metabolized by at least 1 enzyme with a variant allele known to cause poor metabolism.

Molecular Pathogenesis of Mature T-Cell Leukemia

Pekarsky and colleagues review the molecular pathogenesis of T-cell chronic lymphocytic/prolymphocytic leukemia, beginning with the activation of the TCL1 locus at chromosome 14q32.1, and discuss the potential for targeted drug development based on the specific oncogenic pathways of this disease.

See Article

Informed Consent for Genetic Research

The risks and benefits for human participants in population-based genetic research studies differ from those typically associated with clinical research. Beskow and colleaguesArticle discuss an informed consent document and supplemental brochure that they developed to enable individuals to make informed decisions about participation in population-based genetics research. In a commentary, AnnasArticle observes that the current system of protecting human subjects focuses excessively on the consent document, and emphasizes the importance of the informed consent process as one of education and explanation for prospective research participants.

Contempo Updates

Clinical applications of proteomics.

See Article

DNA Microarrays and Gene Expression Profiles

Issues that complicate the use of DNA microarrays for gene expression profiling analysis.

See Article

Genetics and Medicine

Perspectives on advances in genetics: McKusickArticle on the history of medical genetics, Subramanian and coauthorsArticle on the implications of new genomic knowledge for biomedical research and medical practice, and Collins and GuttmacherArticle on ways that genetics is moving into mainstream medicine.

JAMA Patient Page

For your patients: A genetics primer.

See Article

Genomics/Genetics Issue Online Extra

Web-enhanced articles with links from genetics terms to their definitions in the National Human Genome Research Institute Glossary of Genetics Terms.