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The Perils & Promises of Genomic Medicine Carrie Iwema, PhD, MLS, AHIP 13 th January 2015 NN/LM MAR Boost Box.

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Presentation on theme: "The Perils & Promises of Genomic Medicine Carrie Iwema, PhD, MLS, AHIP 13 th January 2015 NN/LM MAR Boost Box."— Presentation transcript:

1 The Perils & Promises of Genomic Medicine Carrie Iwema, PhD, MLS, AHIP 13 th January 2015 NN/LM MAR Boost Box


3  Predictive  Am I at risk for a genetic disease?  Diagnostic  Does my disease have a genetic basis?  Carrier  Might I pass on a genetic mutation to a potential child?  Prenatal  What can I learn about the genetic profile of my fetus? Genetic Testing Rationale

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

5  HER2 oncogene  Over-expressed in 25-30% patients  Cancer cell replication increased  Treat w/Herceptin, a monoclonal antibody inhibiting 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

6  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

7 Timeline: Human Genome Sequence 1995 2014? 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 2007

8 Impossible to see, the future is.

9 Sequencing cost over time…

10  Sequencing & analysis of an individual’s genome  Looks for mutations & differences in your genome compared to others  Whole Genome Sequencing (WGS) vs Genotyping vs Exome sequencing  Genotype versus Phenotype What is Personal Genomics?

11 From the cell to nucleotides


13 SNP: single nucleotide polymorphism

14 Gene Chips

15 Next Gen Sequencing (NGS)

16 1.Order kit 2.Spit into a tube 3.Send tube back 4.Company puts your DNA sample on a chip 5.“science” occurs 6.Report mailed back to you; may only be raw data 7.Genotype NOT full sequence (typically) 8.Consultations, analysis, worry, confusion… DTC: Direct-To-Consumer Genetic Testing


18  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

19 Federal Regulation

20 Access & Trust


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

23 GINA GINA : Prohibits genetic discrimination in health insurance & employment 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…

24 Genome Statute & Legislation DB

25  2009  BRCA1 and BRCA2  Back & forth in court (Supreme Court 4/15/13)  Isolated genes CANNOT be patented, but cDNA CAN (9-0) (6/13/13)  Myriad sued Ambry Genetics & Gene by Gene  2014: GxG settled; Ambry denied  Australia  upheld Myriad’s claim! Are Genes Patentable?

26 Source: Mark Hakkarinen and Bob Cook-Deegan, DNA Patent Database, 12 February 2014 Creative Commons "free use with attribution" license, with the attribution to Genomics Policy Resource.

27 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

28 Incidental Findings? 22 March 2013  Labs performing genome/exome clinical sequencing to also report on 56 specific genes  No age restrictions, no choice to not know (since revised to include opt out)  Clinicians provide pre- & post-test counseling  Modified as needed due to technical advances


30 Genetic Counselors

31  SNPedia: wiki investigating human genetics SNPedia  Promethease: uses SNPedia to analyze & Promethease help explain your DNA Do it yourself…?


33 Crowdsourcing Health Info


35 Noninvasive Fetal Sequencing I am your father.

36 Mom the worrier You Crazy Uncle Ben Skeptical brother- in-law Early adopter sister Dad already signed up to get sequenced Grandpa says no way! Uncle Q-G worried about losing his insurance because of his son’s DNA sequence Cousin Chewie wants to donate his sequence to science and make it totally public Great-Grandpa is gone, but a sample of his DNA still exists… Impact on FamilyFamily Your niece & nephew Your potential kid?

37 Perils of genetic testing 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?

38 1997


40 Promises of genetic testing Ideas for more tests and interventions if I learn I’m at risk Finding 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

41 Online Resources Internet resources in medical genetics. Waggoner DJ. Curr Protoc Hum Genet. 2014 Jan 21;80:Unit 9.12.. doi: 10.1002/0471142905.hg0912s80. PMID: 24510683  Genetic Testing Databases  GeneTests; GTR; GeneReviews; Clinic Directory; Testing Labs  Microarray & Next Gen Sequencing  UCSC Genome; DECIPHER; ISCA; DGV; HGMD; dbSNP; OMIM  Newborn Screening  National Newborn Screening & Global Resource Center; Baby’s First Test  Genetic Disease Resources, Advocacy, & Support Groups  Genetic Alliance; GHR; Unique; The Genetics Education Center; NORD; NIREHG  Genetics Professional Societies  ACMG; ASHG; NSGC; ISNG; AMP; ABMG; ABGC; APHMG

42 Carrie Iwema, PhD, MLS, AHIP Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh

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