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This Week in JAMA
JAMA. 2001;286:2203.
HUMAN GENOMICS/GENETICS
A JAMA THEME ISSUE
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 colleagues (SEE ARTICLE) , 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 colleagues (SEE ARTICLE) , using genetic linkage and positional association analyses, found an association between the tau gene and idiopathic PD. Athan and colleagues (SEE ARTICLE) 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 colleagues (SEE ARTICLE) found that 2 of 93 cases had SCN5A channel mutations that increased late sodium current—a defect associated with risk for fatal arrhythmias.
(SEE ARTICLE)
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 colleagues (SEE ARTICLE) 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 colleagues (SEE ARTICLE) 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 colleagues (SEE ARTICLE) 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, Annas (SEE ARTICLE) 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: McKusick (SEE ARTICLE) on the history of medical genetics, Subramanian and coauthors (SEE ARTICLE) on the implications of new genomic knowledge for biomedical research and medical practice, and Collins and Guttmacher (SEE ARTICLE) 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.
http://www.jama.com
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