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Personal Genomics, Personalized Medicine, & YOU Carrie Iwema, PhD, MLS 21st May 2012 AAAS/Science Translational Medicine panel discussion; MLA 2012 Timeline: Human Genome Sequence $24 K 15 days $2.7 B 13 yrs Human Genome Draft Sequence Individual Human Diploid Genome 2000 2007 1995 1st sequenced genome of a free living organism: Haemophilus Influenzae 2010 2003 2007 Complete Human Reference Genome Jim Watson’s Genome $1 M 1 mth 2014 $1K 15 mins HSLS, U.Pitt Personal Genome Project HSLS, U.Pitt 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 Planning for my long term medical and financial needs I want to use my genome as a social networking tool I am an early adopter and information altruist Might reveal details of my family tree and genealogy To inform my reproductive decisions Motivation to change my habits personal genetics education project (link) HSLS, U.Pitt DTC: Major Companies (20-30K scans in 2009) • 23andMe: genetics just go personal. – Ancestry Edition $399 – Health Edition $429 $99+ • Navigenics: clinically guided genetic analysis – Prices vary; special rates through physicians/employer • Pathway Genomics: The Value of Knowing – Must be ordered through a U.S. physician registered w/PG • deCODEme: deCODE your health – Complete scan (47 conditions) $2,000 HSLS, U.Pitt Gene Chips (“science” occurs) HSLS, U.Pitt SNP: single nucleotide polymorphism – 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 HSLS, U.Pitt GWAS: Genome Wide Association Studies • NIH-supported research • January 2008 • Comparison of genomes to determine individual variations • dbGAP = database of Genotype & Phenotype (NCBI) • Results will help develop better diagnostic tools & treatments HSLS, U.Pitt Next Gen Sequencing (NGS) HSLS, U.Pitt Pharmacogenomics • 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 HSLS, U.Pitt Example—breast cancer • • • • 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 overexpression, thus preventing unnecessary treatments HSLS, U.Pitt Congress & DTC – 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 HSLS, U.Pitt Suggested Regulation 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 HSLS, U.Pitt Challenges How much should we fear discrimination at work and with insurance? What are the privacy concerns for individual and families? How realistic are promises of anonymity? How can we ensure access for all who want to be sequenced? Will fair weight given to environmental & social factors? What surprises and secrets might be revealed? How far ahead is the technology of its clinical usefulness? personal genetics education project (link) HSLS, U.Pitt 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. Genetic Information Non-discrimination Act May 2008 California… HSLS, U.Pitt To take a genetic test or not—that is the question… Newsweek August 2-6, 2010 – Mary Carmichael—”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 HSLS, U.Pitt personal genetics education project (link) Impact on Family Early adopter sister You Skeptical brother Dad already signed up to get sequenced Mom the worrier Grandpa says no way! Crazy Uncle Bill Aunt Erma worried about losing her insurance because of her son’s DNA sequence Your kids Grandma is gone, but a sample of her DNA still exists… Cousin Betty wants to donate her sequence to science and make it totally public Your potential kid? HSLS, U.Pitt I’m doing it! So you’ve got your sequence…now what? • Talk to the company’s genetic counselors • Talk to your physician • Do it yourself…? – SNPedia: wiki investigating human genetics – Promethease: uses SNPedia to analyze & help explain your DNA HSLS, U.Pitt Resources HSLS, U.Pitt Thanks for your attention. Carrie Iwema, PhD, MLS Information Specialist in Molecular Biology Health Sciences Library System University of Pittsburgh [email protected]