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báo cáo khoa học: " Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice | Beaudet Genome Medicine 2010 2 42 http genomemedicine.eom content 2 7 42 w Genome Medicine COMMENTARY L__ Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice Arthur L Beaudet Abstract The ethical issues surrounding genotyping for single nucleotide polymorphisms SNPs or for copy number variation CNV are very different. SNP genotyping can focus on ancestry risk probability single gene diagnosis pharmacogenetics and carrier testing and the combination of these in a single test can present difficulties. The interpretation of such tests inconsistencies between laboratories and access to genotype information for future reference need to be considered as well as the value of genotypes of known clinical significance compared with those that provide modest risk modifications with limited potential to take medically useful steps. For CNV genotyping the major concerns relate to CNVs of uncertain significance and to those with incomplete penetrance. Such CNVs present acute difficulties in counseling symptomatic and asymptomatic individuals and have substantial potential for stigmatization of both groups as well as raising difficulties when detected in prenatal diagnosis. Improved prenatal diagnosis of many disorders provided by array tests compared with the traditional karyotype probably outweighs the uncertainties for families who would terminate pregnancies with findings associated with severe disabilities. There are substantive concerns about offering SNP or CNV genotyping direct to consumers without a physician or counselor to provide guidance for interpretation of the results. Introduction The ethical challenges currently presented by testing for single nucleotide polymorphisms SNPs and copy number Correspondence abeaudet@bcm.edu Department of Molecular and Human Genetics Baylor College of Medicine One Baylor Plaza BCM225 Houston TX 77030 USA 2 BioMed Central .