Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice.

Genome Medicine
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 disabiliti...Continue Reading

References

Nov 20, 1998·The New England Journal of Medicine·R J MorellT B Friedman
Jul 17, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sarah E GollustSara Chandros Hull
Oct 30, 2003·Critical Reviews in Clinical Laboratory Sciences·Hilary Vallance, Jason Ford
Jan 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN American College of Medicine Genetics Board of Directors
May 1, 2007·Current Opinion in Genetics & Development·Pawel Stankiewicz, Arthur L Beaudet
Nov 18, 2008·Prenatal Diagnosis·Ignatia B Van den VeyverArthur L Beaudet
Jun 19, 2009·Clinical Pharmacology and Therapeutics·R B Altman
Jun 19, 2009·Clinical Pharmacology and Therapeutics·A D Schickedanz, R C Herdman
Jul 1, 2009·Nature Reviews. Endocrinology·Elliot S Stolerman, Jose C Florez
Oct 9, 2009·Nature·Pauline C NgJ Craig Venter

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Citations

May 19, 2011·European Journal of Human Genetics : EJHG·Joris R VermeeschKoenraad Devriendt
Feb 12, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Richard R Sharp
Oct 17, 2012·Patient Education and Counseling·Nancy R DowningChristian M Simon
Apr 3, 2012·Prenatal Diagnosis·Paul D Brady, Joris R Vermeesch
Jan 21, 2012·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A NovelliD Giardino
Oct 12, 2014·American Journal of Obstetrics and Gynecology·Wilmar SaldarriagaJavier Fonseca
Jan 7, 2011·Seminars in Fetal & Neonatal Medicine·Orsetta ZuffardiJoris Vermeesch
Sep 18, 2014·Journal of Medical Genetics·Shiri Shkedi-RafidAnneke Lucassen
Sep 16, 2016·Nature Reviews. Genetics·Joris Robert VermeeschKoenraad Devriendt
Jul 21, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Idit MayaMordechai Shohat
Dec 3, 2011·Expert Review of Molecular Diagnostics·Linnea M BaudhuinTimothy S Uphoff

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Methods Mentioned

BETA
genotyping

Software Mentioned

Navigenics
deCODE
Pathway Genomics
Me

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