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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

Gene Testing

Jennifer Adams

CMB 610

October 15, 2009

slide2

Presentation Focus

  • Gene Testing Defined
  • Historical Perspective
  • Reasons for Gene Testing
  • Personal and Societal Implications
  • Legislation
slide3

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/

slide4

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

slide6

Reasons for Gene Testing

http://www.tay-sachs.org/taysachs.php

  • Screening
    • Carrier Status
    • Prenatal Diagnosis

http://emedicine.medscape.com/article/1200683-media

slide7

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

slide8

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

slide9

Reasons for Gene Testing

  • Ancestry
  • Forensics

http://ok.gov/osbi/Forensic_Laboratory/Forensic_Services/CODIS/index.html

http://dna.ancestry.com/dnaTestingEligibility.aspx

slide10

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

slide11

Taking a Gene Test

This is the easy part…

http://dats-ct.us/id2.html

http://www.ushersyndrome.nih.gov/join/blood.html

personal societal implications
Personal/Societal Implications

Lack of cures

Burden

Privacy

How much do we really want to know?

slide13

University of Michigan Child Health

Evaluation and Research (CHEAR)

Unit Study 1997

http://www.med.umich.edu/ott/mott/research/cheargenetictesting.html

slide14

GATTACA:

The Future of Gene Testing?

slide15

GINA: Is the Legislation

Catching Up With the Science?

http://www.genome.gov/24519851

Health Insurance & Employment

Genetic

Discrimination

slide18

My reasons

For

Gene Testing

references
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
references1
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
slide22

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

slide23

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.

slide24

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