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Jennifer Adams CMB 610 October 15, 2009

Gene Testing. Jennifer Adams CMB 610 October 15, 2009. Presentation Focus. Gene Testing Defined Historical Perspective Reasons for Gene Testing Personal and Societal Implications Legislation. Gene Testing Defined. Detection of differences or abnormalities in DNA sequences

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Jennifer Adams CMB 610 October 15, 2009

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  1. Gene Testing Jennifer Adams CMB 610 October 15, 2009

  2. Presentation Focus • Gene Testing Defined • Historical Perspective • Reasons for Gene Testing • Personal and Societal Implications • Legislation

  3. Gene Testing Defined • Detection of differences or abnormalities in • DNA sequences • Chromosomes • Proteins • Genes http://www.wired.com/wiredscience/2008/04/the-fda-and-23a/

  4. Historical Perspective http://www.dementiaguide.com/aboutdementia/alzheimers/inherited/ HD - 1993 PKU - 1961 http://hopes.stanford.edu/diagnsis/gentest/s8.html http://2009.igem.org/Team:Imperial_College_London/M1/PKU

  5. Gene Test Growth

  6. Reasons for Gene Testing http://www.tay-sachs.org/taysachs.php • Screening • Carrier Status • Prenatal Diagnosis http://emedicine.medscape.com/article/1200683-media

  7. Reasons for Gene Testing • PGD • Done after 6-8 cell stage embryos • Zonapelucida pierced • Single cell aspirated • Gender & genes http://www.ivf-amman.com/Eng_services_page.htm

  8. Reasons for Gene Testing • Symptomatic Diagnosis • Presymptomatic Diagnosis • Presymptomatic Risk http://www.herceptin.com/hcp/HER2-testing/interpreted-results.jsp http://www.irishscientist.ie/2002/contents.asp?contentxml=02p106b.xml&contentxsl=is02pages.xsl

  9. Reasons for Gene Testing • Ancestry • Forensics http://ok.gov/osbi/Forensic_Laboratory/Forensic_Services/CODIS/index.html http://dna.ancestry.com/dnaTestingEligibility.aspx

  10. http://www.dnapolicy.org/policy.issue.image.php?image=f51851cc375a0bdabee5743e8a625488.jpg&caption=http://www.dnapolicy.org/policy.issue.image.php?image=f51851cc375a0bdabee5743e8a625488.jpg&caption=

  11. Taking a Gene Test This is the easy part… http://dats-ct.us/id2.html http://www.ushersyndrome.nih.gov/join/blood.html

  12. Personal/Societal Implications Lack of cures Burden Privacy How much do we really want to know?

  13. University of Michigan Child Health Evaluation and Research (CHEAR) Unit Study 1997 http://www.med.umich.edu/ott/mott/research/cheargenetictesting.html

  14. GATTACA: The Future of Gene Testing?

  15. GINA: Is the Legislation Catching Up With the Science? http://www.genome.gov/24519851 Health Insurance & Employment Genetic Discrimination

  16. Giving ParentsTMI?

  17. Direct to Consumer Testing (DTC)

  18. My reasons For Gene Testing

  19. Questions?

  20. References • Wired Science http://www.wired.com/wiredscience/2008/04/the-fda-and-23a/ • HOPES http://hopes.stanford.edu/diagnsis/gentest/s8.html • IGEM http://2009.igem.org/Team:Imperial_College_London/M1/PKU • Dimentia Guide http://www.dementiaguide.com/aboutdementia/alzheimers/inherited/ • Gene Tests Database http://www.genetests.org • Tay-Sachs http://www.tay-sachs.org/taysachs.php • Medscapehttp://emedicine.medscape.com/article/1200683-media • Genetic and Fertility Clinic http://www.ivf-amman.com/Eng_services_page.htm

  21. References • Herceptin.com http://www.herceptin.com/hcp/HER2-testing/interpreted-results.jsp • The Irish Scientist http://www.irishscientist.ie/2002/contents.asp?contentxml=02p106b.xml&contentxsl=is02pages.xsl • Ancestry.com http://dna.ancestry.com/dnaTestingEligibility.aspx • CODIS http://ok.gov/osbi/Forensic_Laboratory/Forensic_Services/CODIS/index.html • DNA Policy Center http://www.dnapolicy.org/policy.issue.image.php?image=f51851cc375a0bdabee5743e8a625488.jpg&caption • You Tube http://www.youtube.com

  22. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fragilexhttp://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fragilex

  23. Get the latest on your DNA with $399 and a tube of saliva. Here's what you do: 1. Order a kit ($399 USD) from our online store. 2. Claim your kit, spit into the tube, and send it to the lab. https://www.23andme.com/ 3. Our CLIA-certified lab analyzes your DNA in 2-4 weeks. 4. Log in and start exploring your genome.

  24. At BioGlobe, a number of regions across six different exons are sequenced to capture the mutations known to cause over 99% of the cystic fibrosis cases. Using information in online databases, variations in the sequenced data are evaluated, and subsequently a diagnosis is produced. http://www.clcbio.com/index.php?id=1265

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