1. Personal Genomics, Personalized Medicine, & YOU Carrie Iwema, PhD, MLS 21 st May 2012 AAAS/Science Translational Medicine panel discussion; MLA 2012

2. Timeline: Human Genome Sequence HSLS, U.Pitt 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

3. Personal Genome Project HSLS, U.Pitt

4. Why get genetic testing? HSLS, U.Pitt 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)

5. 23andMe: genetics just go personal.23andMe –Ancestry Edition $399 –Health Edition $429 Navigenics: clinically guided genetic analysisNavigenics –Prices vary; special rates through physicians/employer Pathway Genomics: The Value of KnowingPathway Genomics –Must be ordered through a U.S. physician registered w/PG deCODEme: deCODE your healthdeCODEme –Complete scan (47 conditions) $2,000 DTC: Major Companies (20-30K scans in 2009)20-30K scans in 2009 HSLS, U.Pitt $99+

6. Gene Chips (“science” occurs) HSLS, U.Pitt

7. SNP: single nucleotide polymorphism HSLS, U.Pitt –DNA sequence variations that occur when a single nucleotide (A, C, T, G) in the genome sequence is altered –Variations in DNA sequence have an impact on how humans respond to disease –Must occur in at least 1% of the population –SNP maps help identify genes associated with complex ailments

8. NIH-supported research January 2008 Comparison of genomes to determine individual variations dbGAP = database of Genotype & Phenotype (NCBI)dbGAP Results will help develop better diagnostic tools & treatments GWAS GWAS : Genome Wide Association Studies HSLS, U.Pitt

9. Next Gen Sequencing (NGS) HSLS, U.Pitt

10. How an individual’s genetic inheritance affects the body’s response to drugs –More powerful medicines –Better, safer drugs appropriately matched to patients –More accurate drug dosages –Advanced screening for disease –Better vaccines –Decrease in overall health care costs –Improvements in drug discovery & approval process Pharmacogenomics HSLS, U.Pitt

11. 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 HSLS, U.Pitt

12. –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 HSLS, U.Pitt

13. 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 HSLS, U.Pitt

14. Challenges HSLS, U.Pitt 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)

15. GINA GINA : Prohibits genetic discrimination in health insurance & employment HSLS, U.Pitt 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… Genetic Information Non-discrimination Act May 2008

16. Newsweek August 2-6, 2010 –Mary Carmichael—”DNA Dilemma”DNA Dilemma –What can be learned from these tests? Conclusion: tests can be educational, but medical value is debatable –How reliable are they and how will I react? Conclusion: carefully choose the company, avoid hype, engage w/your data, consult w/expert(s), recognize still early days of personal genomics –Should these tests even be on the market? Conclusion: regulation is inevitable, but to what extent; individuals have the right to access their own genetic info; transparency –Final decision To take a genetic test or not—that is the question… HSLS, U.Pitt

17. 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 HSLS, U.Pitt personal genetics education project (link) Your kids Your potential kid?

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

19. Resources HSLS, U.Pitt

20. Thanks for your attention. Carrie Iwema, PhD, MLS Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh iwema@pitt.edu