Pharmacy & Therapeutics - February 2009 - (Page 92)

MEETING HIGHLIGHTS 58th Annual Meeting American Society of Human Genetics, 2008 Safiya Abouzaid, PharmD; Joseph E. Couto, PharmD, MBA; and Marc B. Royo The 2008 ASHG meeting, which took place from November 11 to 15, brought almost 6,500 attendees to Philadelphia to learn about the latest advances in human genetics and genomics research. This conference is considered the world’s largest gathering of human genetics researchers, academicians, clinicians, genetic counselors, and nurses. This article reviews the 1,000 Genomes Project, Gaucher’s disease, warfarin dosing, and Huntington’s disease. The 1,000 Genomes Project: Clinical Applications • Francis Collins, MD, PhD, Former Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md. • David Altshuler, MD, PhD, Associate Professor of Genetics and Medicine, and Director, Program in Medical and Population Genetics, Harvard Medical School, Cambridge, Mass. • David Valle, MD, Henry J. Knott Professor, and Director, Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Md. Originally announced in January 2008, the 1,000 Genomes Project is a collaboration between genomics institutes in England, China, and the U.S. The goal of this project is to sequence the genomes of more than 1,000 people, thereby creating the most comprehensive and detailed documentation of genetic variations in humans. From this research, it is expected that investigators will be able to create a catalogue of human polymorphisms that are present at a 1% or greater frequency in each of the sample populations. The information garnered from this project “will increase the sensitivity of disease discovery efforts across the genome fivefold,” said Dr. Collins. He explained that a better understanding of human genetic variations will enlighten the medical community about possible mechanisms of disease and will point us toward possible new therapies, because many of these genetic variants “could very well be good drug targets.” It is hoped that the research will provide ways to predict future risks of illness in currently healthy people. Previous large-scale genetic research relied on singlenucleotide polymorphism (SNP) chips to provide information about genetic variations among patients. The 1,000 Genomes Project should provide further insight into SNP variations and the larger differences in genome structure, called structural Dr. Abouzaid and Dr. Couto are Pharmacoeconomics and Outcomes Research Fellows in the Jefferson School of Health Policy and Population Health at Thomas Jefferson University in Philadelphia, Pennsylvania. Mr. Royo is an MD/MBA candidate at the school. variants. These differences may play an important role in a person’s susceptibility to certain diseases. Dr. Altshuler suggested that after the sequencing of genes in more than 1,000 individuals is completed, new data will be able to be projected into hundreds of thousands of previously collected SNP chip samples, thereby empowering researchers to learn about less common variants. This process of projecting new genetic data into previously gathered genetic information is referred to as imputation. Since January 2008, three pilot studies, generating roughly 10% of the data for the project, have been completed. A large amount of data has been accrued, and 95% of the data is usable and of high quality for detecting unknown genetic variants. In light of these successes, the initial sequencing of nearly 1,200 unique individuals is expected to be completed by the end of 2009. Although the raw data are available as they are collected, processing data for a project of this magnitude takes a considerable amount of time. Thus, the release of processed data is scheduled to begin in 2009 and to continue into 2010, with information on progress to be published quarterly. Although the 1,000 Genomes Project should expand our knowledge of the genetic basis of disease, Dr. Altshuler cautioned that “nobody expects that we will explain 100% of the heritable basis of disease, nor will there be drugs in the clinic based on the 1,000 Genomes Project.” Dr. Valle indicated that clinicians are practicing “average medicine.” For example, after confirming the diagnosis of a patient’s illness, a practitioner uses a treatment plan based upon the average presentation of that disease. The 1,000 Genomes Project, as well as other genome-wide association studies (GWAS), may provide a better sense of how to characterize patients at the first clinical presentation to allow for a more predictive form of medicine more closely tailored to specific individuals. Dr. Valle outlined what researchers will need to do in order to realize the long-term, patient-centered goals of GWAS: (1) develop new sequencing techniques to improve the efficiency of sequencing the genome, (2) conduct biological research to determine the consequences of the genetic variants identified by these studies, and (3) undertake clinical 92 P&T® • February 2009 • Vol. 34 No. 2

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Pharmacy & Therapeutics - February 2009 Contents Editorial Medication Errors Prescription: Washington New Drugs/Drug News/New Medical Devices Drug Forecast Pushing an Expanded Role for Pharmacists Better Asthma Management with Advanced Technology Pharmaceutical Approval Update 58th Annual Meeting, American Society of Human Genetics, 2008 American Society of Hematology, 50th Annual Meeting and Exposition 2008 San Antonio Breast Cancer Symposium Stahl’s Essential Psychopharmacology, 3rd Edition Author Guidelines

Pharmacy & Therapeutics - February 2009

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