Iwema PhD MLS AHIP 19 th March 2014 Molecular Biology Information Service 1997 Outline Context Personal Genomics Personalized Medicine Consumer Impact Context Broad Timeline of Genetics ID: 1045583
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1. Personal GenomicsCarrie Iwema, PhD, MLS, AHIP19th March 2014Molecular Biology Information Service
2. 1997
3. OutlineContextPersonal GenomicsPersonalized MedicineConsumer Impact
4. Context
5. Broad Timeline of Genetics(video)from Genetics & Society: A Course for EducatorsbyRob DeSalle, PhD & David Randle, PhD
6. NGS cost over time…
7. Timeline: Human Genome Sequence1995201420002003200720072010Human Genome Draft SequenceComplete Human Reference GenomeIndividual HumanDiploid GenomeJim Watson’s Genome$2.7 B13 yrs$24 K15 days$1 M1 mth$1K15 mins1st sequenced genome of a free living organism: HaemophilusInfluenzae
8. Human Genome Project
9. GWAS: Genome Wide Association Studies
10. http://genome.ucsc.edu/ENCODE/ http://www.nature.com/encode/ http://www.genome.gov/10005107
11. GenomeTVLecture Series
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13. Personal Genomics
14. Why get genetic testing?Ideas for more tests and interventions if I learn I’m at riskTo find the right drugs, in the right doses, for my conditionsMotivation to change my habitsMight reveal details of my family tree and genealogyPlanning for my long term medical and financial needsI am an early adopter and information altruistI want to use my genome as a social networking toolTo inform my reproductive decisionspersonal genetics education project (link)
15. Predictive testing Am I at risk for a genetic disease? Diagnostic testing Does my disease have a genetic basis? Carrier testing Might I pass on a genetic mutation to a potential child?Prenatal testing What can I learn about the genetic profile of my fetus? Genetic Testing Rationalepersonal genetics education project (link)
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17. Personal Genome Project
18. Order kitSpit into a tubeSend tube backCompany puts your DNA sample on a chip“science” occursReport mailed back to you; may only be raw dataGenotype NOT full sequence (typically)Consultations, analysis, worry, confusion…DTC: Direct-To-Consumer Genetic TestingHow do they work?
19. SNP: single nucleotide polymorphism
20. 23andMe: genetics just go personal.Personal genome APIFDA clearanceNavigenics: clinically guided genetic analysisBought out by Life TechnologiesPathway Genomics: The Value of KnowingMust be ordered through a U.S. physician registered w/PG deCODEme: deCODE your healthDiscontinued salesDTC: Major Companies$99
21. Walgreens, Pathway Genomics, & FDA (May 2010)Government Accountability Office (GAO)22 July 2010DTC genetic testing companies provide “results that are misleading and of little or no practical use.”Companies: 23andMe, Navigenics, Pathway Genomics + othersDegree of Regulation vs Public Right to Personal InfoCongress & DTC
22. Ensure appropriate info & consent proceduresFormal laboratory accreditationEvidence of a valid gene-disease associationAppropriately qualified staff to interpret the test resultConsumer protection legislation to prevent false or misleading claimsRegulating direct-to-consumer genetic tests: What is all the fuss about?Wright CF, Hall A, Zimmern RL.Genet Med. 2010 Oct 1. [Epub ahead of print] PMID: 20921893Suggested Regulation
23. Talk to the company’s genetic counselorsTalk to your physician/genetic counselorDo it yourself…? SNPedia: wiki investigating human geneticsPromethease: uses SNPedia to analyze & help explain your DNAI’m doing it!So you’ve got your sequence…now what?
24. Promethease Report
25. Personalized Medicine
26. PredictiveUse patient’s genome to determine probability of developing certain diseasesPreventiveBased on individual risk profile, start therapies in advance to reduce likelihood of illnessPersonalizedCreate drug therapies to suit each genomeParticipatoryPatients will maintain own health by learning about their predispositionsHuman Genome, US Medicine, & the 4 P’s
27. How an individual’s genetic inheritance affects the body’s response to drugsPharmacogenomics
28. HER2 oncogene Over-expressed in 25-30% patientsResults in increase in replication of cancer cellsTreat w/Herceptin, a monoclonal antibody that inhibits HER2BENEFITSHerceptin targets ONLY cancerous cells, thus eliminating need to administer large drug dosesIdentification of ONLY patients w/gene over-expression, thus preventing unnecessary treatmentsExample—breast cancer
29. Impact of genetic variation on drug response
30. ChallengesWhat are the privacy concerns for individual and families?How much should we fear discrimination at work and with insurance?How far ahead is the technology of its clinical usefulness?Will fair weight given to environmental & social factors?How can we ensure access for all who want to be sequenced? What surprises and secrets might be revealed? How realistic are promises of anonymity? personal genetics education project (link)
31. Access & Trustpersonal genetics education project (link)Your doctorYour spouseYour employerYour health insurerLaw enforcementResearchers studying genetics
32. Incidental Findings?22 March 2013Labs performing genome/exome clinical sequencing to also report on 57 specific genesNo age restrictions, no choice to not knowClinicians provide pre- & post-test counselingModified as needed due to technical advances
33. FEARS!!!
34. Genetic Discrimination
35. GINA: Genetic Information Non-discrimination Actpersonal genetics education project (link)“ The first civil rights legislation of the 21st century”-Senator Ted KennedySigned 28 May 2008(After 13 years of debate.)
36. GINA: Prohibits genetic discrimination in health insurance & employment personal genetics education project (link)Title 1: Prohibits discrimination in group and individual health insurance plans. Forbids genetic information being used to deny coverage, adjust premiums, or require someone to take a genetic test. Title 2: Prohibits employers from using genetic information to make hiring, firing or promotion decisions. Severely limits employers rights to request, require, or purchase an employee’s genetic information. California…
37. Genome Statute & Legislation DB
38. Myriad Genetics case 2009-currentBRCA1 and BRCA2Back & forth in court (Supreme Court 4/15/13)Genes CANNOT be patented (9-0) (6/13/13)Myriad now suing Ambry Genetics & Gene by Gene Are Genes Patentable?SciShow: Patenting Person Parts
39. Source: Mara Snyder and Bob Cook-Deegan, DNA Patent Database, 2 January 2012 Creative Commons "free use with attribution" license, with the attribution to Genomics Policy Resource.
40. 11th Oct 2012Data access & sharing policiesPrivacy protectionsSecurityCompliance w/regulatory schemes (HIPAA)Informed consent process & issuesFacilitate research progressPublic benefit
41. Consumer Impact
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43. Learning from One’s Genome
44. Mom the worrierYouCrazy Uncle BillSkeptical brotherEarly adopter sisterDad already signed up to get sequencedGrandpa says no way!Aunt Erma worried about losing her insurance because of her son’s DNA sequenceCousin Betty wants to donate her sequence to science and make it totally publicGrandma is gone, but a sample of her DNA still exists…Impact on Familypersonal genetics education project (link)Your kidsYour potential kid?
45. Henrietta Lacks controversy
46. Noninvasive Fetal Sequencing
47. Method to test for certain genetic traits in an embryoEmbryo is created via in vitro fertilization Genetic testing occurs when embryo is 2-4 days old, typically at the 8-cell stageA single cell is removed and testedResults of testing are used to decide which embryos to implant in prospective mother’s uterusPre-implantation Genetic Diagnosispersonal genetics education project (link)
48. Genetic Counselors
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50. Family History Resources
51. Counseling & Testing Resources
52. http://www.ncbi.nlm.nih.gov/gtr/
53. Resources
54. Genetic Testing Scenarioshttp://www.pbs.org/wgbh/nova/body/genetic-testing-dilemmas-intro.html
55. Thanks for your attention.Carrie Iwema, PhD, MLS, AHIPInformation Specialist in Molecular BiologyHealth Sciences Library SystemUniversity of Pittsburghiwema@pitt.edu