6月 11日 (三)
7:00 am - 4:00 pm Registration Open
7:30am Facilitated Break-Out Discussion Groups & Morning Coffee
8:15 Chairperson’s Remarks
8:20 The American Health Information Community’s Personalized Health Care Workgroup
Kristin Brinner, Ph.D., AAAS Fellow, Office of the Secretary, US Department of Health and Human Services
The Personalized Health Care (PHC) Workgroup’s vision is predicated on the idea that PHC is a consumer-centric system in which consumers and clinicians customize diagnostic, treatment, and manage-ment plans based on a variety of factors, including culture, personal behaviors, preferences, family health history, and the individual’s unique genetic/genomic makeup. This vision is based on the
confluence of two powerful forces, the development of Health Information Technology (HIT), and the rapid advances in the basic understanding of the relationships between health, disease, and genetics. This vision also embraces the notion that as consumers are provided more information about their individualized options, they will actively participate in the management of their health and health care prac-tices. We would provide a presentation on the PHC Workgroup’s vision, and information on its current work in the areas of: standards for genetic/genomic test information; pharmacogenomics in both the research and clinical enterprises; consumer access to health information; and confidentiality, privacy, and security concerns specific to inclusion of genetic/genomic test information in the Electronic Health Record (EHR).
8:50 The Value of CLIA Certification in Consumer Genomics
Anne Pontius, Senior Director, Quality Systems, Expression Analysis, Inc.
A number of genomic testing companies accept requests directly from consumers and return to them genomic test results. These data may be related to disease predispositions or treatment outcomes; therefore the tests should be performed only in high quality facilities that adhere to stringent regulatory guidelines at all stages in the process. In this talk, we will distinguish two types of personalized medicine involving either the “person,” that is the consumer alone, or the “patient,” acting under the guidance of a physician. We argue that genomic testing for each group would benefit from well documented quality systems, such as those required for CLIA certification.
9:20 The New York State Model for Regulatory Oversight of Genetic Tests
Ann Willey, Ph.D., J.D., Director, Office of Laboratory Policy and Planning, Wadsworth Center, New York State Department of Health
Direct consumer access to laboratory testing, including genomic information derived from biological materials, is subject to state specific statues. In New York all genetic testing requires a physician or other authorized person (not the consumer) to order the test and receive the results for communication to the tested individual. New York also requires any laboratory testing specimens from New York residents to obtain a permit that requires validation of any assay offered and written informed consent for each test performed. This system has been described as the most stringent regulatory review of genetic testing currently exercised in the US.
9:50 Networking Coffee Break, Poster and Exhibit Viewing
10:45 From Association to Individualized Medicine
Ulrich Broeckel, Ph.D., Associate Professor; Director, Individualized Medicine Institute, Pediatrics, Medical College of Wisconsin
The results of genetic association studies provide an unprecedented wealth of information for diagnostics, drug development and individualized medicine. The strategies to translate these findings into clinical practice are the challenges for the future. We present examples and current research projects in the areas of pediatric research and cardiovascular disease.
11:15 Personalized Risk Assessment - Moving Beyond Genomic-Based Risk Assessment
Alex Bangs, Co-Founder & CTO, Entelos, Inc.
New technologies and services are enabling consumers to learn about their genetic makeup and associated risk. However, focusing on the genetic markers alone leaves out the role of the environment and the whole physiological system. Systems biology-based technologies, specifically large-scale simulation models of human physiology, are explicitly designed to account for these whole body effects and provide patient outcomes. Furthermore, simulation models allow “what if” analyses of the benefits of interventions. Case studies will be presented illustrating individual patient risk profiles based on patient data including genetic markers.
11:45 What Does DNA Predict? Genotype-Phenotype Correlation:
A Practical Tool to Personal Medicine for Clinicians
Robert Vlietinck, M.D., Ph.D., Professor, Human Genetics, University of Leuven, BELGIUM
Where traditional curative medicine is symptom oriented, people seeking Personal Medicine (PM) may consult long before any symptoms appear. The falling prices of DNA examinations, makes them accessible to an increasing number of people. They are often very well informed, sometimes even better than their physician. Technical DNA analysis is much easier than explaining what those DNA variations practically mean, and easier than giving guidelines on how to prevent the genetic susceptibility.
12:15 pm Close of Morning Session
12:30 Luncheon Technology Workshop
(Sponsorship Available) or Lunch on Your Own
1:45 Chairperson’s Remarks
1:50 Genetic Variant Predicts the Efficacy of Statin Therapy on Death and Cardiovascular Events
Andrew Grupe, Ph.D., Senior Director, Pharmacogenomics, R&D, Celera
Preventive therapy with statins results in a substantial reduction of primary and secondary coronary events. Biomarkers that can identify people who have an improved survival benefit that is independent of lipid-lowering effects could improve treatment and patient compliance. The results for a common biomarker for both risk of coronary heart disease and response to statin therapy will be presented.
Furthermore, the utility of this marker to guide treatment selection for individuals who are at risk for coronary events will be discussed.
2:20 Pharmacogenomic Testing for CYP 2D6 for Women with Breast Cancer on Tamoxefin
Alan Wu, Ph.D., Chief, Clinical Chemistry Laboratory, Laboratory Medicine, University of California, San Francisco
Tamoxefin is widely used to treat patients with breast cancer. Polymorphisms in cytochrome (CYP)2D6 affect the efficacy of tamoxefin therapy. In the Northern California area, we are offering a program whereby breast cancer patients are educated about the pharmacogenomics of tamoxefin and are offered genotyping for CYP 2D6. The consequences and therapeutic options of women who are found to be slow metabolizers will be discussed by their oncologists on an individual basis.
2:50 Title to be Announced
Patrick F. Terry, Director of Industry Relations & Government Affairs, Genomic Health, Inc.
3:20 Networking Refreshment Break, Last Chance for Poster and Exhibit Viewing
4:00 Poster Awards in the Exhibit Hall
