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Personal Genomics Carrie Iwema, PhD, MLS, AHIP 19 th March 2014 Molecular Biology Information Service.

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Presentation on theme: "Personal Genomics Carrie Iwema, PhD, MLS, AHIP 19 th March 2014 Molecular Biology Information Service."— Presentation transcript:

1 Personal Genomics Carrie Iwema, PhD, MLS, AHIP 19 th March 2014 Molecular Biology Information Service

2 1997

3 Outline 1.Context 2.Personal Genomics 3.Personalized Medicine 4.Consumer Impact

4 Context

5 Broad Timeline of Genetics (video) from Genetics & Society: A Course for Educators by Rob DeSalle, PhD & David Randle, PhD

6 NGS cost over time…

7 Timeline: Human Genome Sequence 19952014 2000 2003 2007 2010 Human Genome Draft Sequence Complete Human Reference Genome Individual Human Diploid Genome Jim Watson’s Genome $2.7 B 13 yrs $24 K 15 days $1 M 1 mth $1K 15 mins 1 st sequenced genome of a free living organism: Haemophilus Influenzae

8 Human Genome Project

9 GWAS GWAS : Genome Wide Association Studies


11 GenomeTV Lecture Series


13 Personal Genomics

14 Why get genetic testing? Ideas for more tests and interventions if I learn I’m at risk To find the right drugs, in the right doses, for my conditions Motivation to change my habits Might reveal details of my family tree and genealogy Planning for my long term medical and financial needs I am an early adopter and information altruist I want to use my genome as a social networking tool To inform my reproductive decisions personal 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 Rationale personal genetics education project (link)


17 Personal Genome Project

18 Order kit Spit into a tube Send tube back Company puts your DNA sample on a chip “science” occurs Report mailed back to you; may only be raw data Genotype NOT full sequence (typically) Consultations, analysis, worry, confusion… DTC: Direct-To-Consumer Genetic Testing How do they work?

19 SNP: single nucleotide polymorphism

20 23andMe: genetics just go personal.23andMe –Personal genome API –FDA clearance Navigenics: clinically guided genetic analysisNavigenics –Bought out by Life Technologies Pathway Genomics: The Value of KnowingPathway Genomics –Must be ordered through a U.S. physician registered w/PG deCODEme: deCODE your healthdeCODEme –Discontinued sales DTC: Major Companies $99

21 –Walgreens, Pathway Genomics, & FDA (May 2010) –Government Accountability Office (GAO) 22 July 2010 DTC genetic testing companies provide “results that are misleading and of little or no practical use.” Companies: 23andMe, Navigenics, Pathway Genomics + others Degree of Regulation vs Public Right to Personal Info Congress & DTC

22 1.Ensure appropriate info & consent procedures 2.Formal laboratory accreditation 3.Evidence of a valid gene-disease association 4.Appropriately qualified staff to interpret the test result 5.Consumer protection legislation to prevent false or misleading claims Regulating 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: 20921893 Suggested Regulation

23 Talk to the company’s genetic counselors Talk to your physician/genetic counselor Do it yourself…? –SNPedia: wiki investigating human geneticsSNPedia –Promethease: uses SNPedia to analyze & help explain your DNAPromethease I’m doing it! So you’ve got your sequence…now what?

24 Promethease Report

25 Personalized Medicine

26 Predictive –Use patient’s genome to determine probability of developing certain diseases Preventive –Based on individual risk profile, start therapies in advance to reduce likelihood of illness Personalized –Create drug therapies to suit each genome Participatory –Patients will maintain own health by learning about their predispositions Human Genome, US Medicine, & the 4 P’sthe 4 P’s

27 How an individual’s genetic inheritance affects the body’s response to drugs Pharmacogenomics

28 HER2 oncogene Over-expressed in 25-30% patients Results in increase in replication of cancer cells Treat w/Herceptin, a monoclonal antibody that inhibits HER2 BENEFITS –Herceptin targets ONLY cancerous cells, thus eliminating need to administer large drug doses –Identification of ONLY patients w/gene over- expression, thus preventing unnecessary treatments Example—breast cancer

29 Impact of genetic variation on drug response

30 Challenges What 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 & Trust personal genetics education project (link) Your doctor Your spouse Your employer Your health insurer Law enforcement Researchers studying genetics

32 Incidental Findings? 22 March 2013 Labs performing genome/exome clinical sequencing to also report on 57 specific genes No age restrictions, no choice to not know Clinicians provide pre- & post-test counseling Modified as needed due to technical advances

33 FEARS!!!

34 Genetic Discrimination

35 GINA: Genetic Information Non-discrimination Act personal genetics education project (link) “ The first civil rights legislation of the 21st century ” -Senator Ted Kennedy Signed 28 May 2008 (After 13 years of debate.)

36 GINA 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-current –BRCA1 and BRCA2 –Back & 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 11 th Oct 2012 Data access & sharing policies Privacy protections Security Compliance w/regulatory schemes (HIPAA) Informed consent process & issues Facilitate research progress Public benefit

41 Consumer Impact


43 Learning from One’s Genome

44 Mom the worrier You Crazy Uncle Bill Skeptical brother Early adopter sister Dad already signed up to get sequenced Grandpa says no way! Aunt Erma worried about losing her insurance because of her son’s DNA sequence Cousin Betty wants to donate her sequence to science and make it totally public Grandma is gone, but a sample of her DNA still exists… Impact on FamilyFamily personal genetics education project (link) Your kids Your potential kid?

45 Henrietta Lacks controversy

46 Noninvasive Fetal Sequencing

47 Method to test for certain genetic traits in an embryo Embryo is created via in vitro fertilization Genetic testing occurs when embryo is 2-4 days old, typically at the 8-cell stage A single cell is removed and tested Results of testing are used to decide which embryos to implant in prospective mother’s uterus Pre-implantation Genetic Diagnosis personal genetics education project (link)

48 Genetic Counselors


50 Family History Resources

51 Counseling & Testing Resources


53 Resources

54 Genetic Testing Scenarios

55 Thanks for your attention. Carrie Iwema, PhD, MLS, AHIP Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh

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