1. Genetics, Genomics, Epidemiology, and MCH Plenary, XII MCHEPI Annual Conference Atlanta, December 6-8, 2006 Atlanta, December 6-8, 2006

2. “May God let you meet many wrong people before you meet the right person, so when you do, you will be grateful” Gabriel Garcia Marquez

3. So…what’s the point? Have we in MCH been “meeting” [using] the wrong variables to explain hard-to-understand outcomes? Have we in MCH been “meeting” [using] the wrong variables to explain hard-to-understand outcomes? Should we be satisfied by keeping all our [large] uncertainty as the error term [“E” ] in our multi- variable analytical models? Should we be satisfied by keeping all our [large] uncertainty as the error term [“E” ] in our multi- variable analytical models? Will we find ‘the variable” that explains it all? Will we find ‘the variable” that explains it all? Will there be many more variables to be found? Will there be many more variables to be found? We, as epidemiologists, should be grateful for what Genetics is bringing to the analytical plate! We, as epidemiologists, should be grateful for what Genetics is bringing to the analytical plate!

4. Genetics/genomics at-a-glance …what’s next …? phenotype genessequencing testing genome genomics

6. OC no OC OC no OC V no FV thrombotic disease + -* *: x1000 General population with genetic testing. New analytical paradigm for epidemiologists: introducing the “genetic risk factor” into the equation relationship once Factor V (genetic predisposition) has been introduced: relationship once Factor V (genetic predisposition) has been introduced: thrombotic disease + -* OC no OC RR: 2.0 4 2 1010 1010 5 0303.28 1010 4 1010 2 RR 33 8 1.8 ref General population w/o genetic testing

7. Immediate implications for an outcome with 3 potential 2-allele genes involved (A,a,B,b,C,c): E non- E O non-O E Non- E O non-O A B C a b c 16 2

8. Even more complex… What are the costs of alternatives when testing is available? How to measure it? What are the costs of alternatives when testing is available? How to measure it? How will it affect populations after it is introduced? Are confounding relationships going to change? How will it affect populations after it is introduced? Are confounding relationships going to change? How to quantify risk given the genetic characteristics of the “genetic risk factor”? How to quantify risk given the genetic characteristics of the “genetic risk factor”? What happens when there are more than one, two, or more genes involved? What happens when there are more than one, two, or more genes involved? …and more! …and more!

9. Human Genome Epidemiology, Dr. Cindy Moore Associate Director for Science, National Office of Public Health Genomics, Centers for Disease Control and Prevention Associate Director for Science, National Office of Public Health Genomics, Centers for Disease Control and Prevention M.D. and pediatrics residency, University of Tennessee Center for the Health Sciences M.D. and pediatrics residency, University of Tennessee Center for the Health Sciences Clinical fellowship and Ph.D. in medical genetics, Indiana University School of Medicine. Clinical fellowship and Ph.D. in medical genetics, Indiana University School of Medicine. Much of her 15-year career at CDC has been in the area of birth defects research Much of her 15-year career at CDC has been in the area of birth defects research Contributor to the National Children’s Study Contributor to the National Children’s Study Genomics will affect clinical medicine and public health practice beyond the traditional domain of genetic diseases. Major gaps exist in translating gene discoveries into health benefits. Efforts must focus on expansion of population-based research, knowledge synthesis and integration, and public health assessment of genome-based tests and technologies.

10. Challenges and opportunities of integrating genetics into MCH studies, Dr. Sonja Rasmussen Medical Officer for CDC’s National Center on Birth Defects and Developmental Disabilities. Medical Officer for CDC’s National Center on Birth Defects and Developmental Disabilities. Master’s degree in Medical Genetics from the University of Wisconsin Master’s degree in Medical Genetics from the University of Wisconsin M.D. degree with honors from University of Florida College of Medicine. M.D. degree with honors from University of Florida College of Medicine. Pediatrics residency training at Massachusetts General Hospital and her fellowship training in Clinical Genetics at Johns Hopkins Hospital and University of Florida. Pediatrics residency training at Massachusetts General Hospital and her fellowship training in Clinical Genetics at Johns Hopkins Hospital and University of Florida. Selecting source of specimens and maximizing participation rates Human subjects-related issues (informed consent, disclosure of genetic results) Choosing genes for analysis and analytical approaches to be used

11. Quantifying The Health Benefits Of Genetic Testing In Economic Evaluations, Dr. Scott Grosse Scott Grosse is a Senior Health Economist in the Office of the Director, National Center on Birth Defects and Developmental Disabilities at CDC. Scott Grosse is a Senior Health Economist in the Office of the Director, National Center on Birth Defects and Developmental Disabilities at CDC. Doctoral studies in economics and public health at the University of Michigan. Doctoral studies in economics and public health at the University of Michigan. Prevention Effectiveness Fellow in 1996 at CDC Prevention Effectiveness Fellow in 1996 at CDC He conducts research on the economic costs associated with genetic disorders, birth defects, and developmental disabilities He conducts research on the economic costs associated with genetic disorders, birth defects, and developmental disabilities Economic evaluation can show value for money spent Economic evaluation requires estimation of health benefits Good economic evaluations rely on sound epidemiology

12. Preterm Birth: Genetics to Genomics. A Framework for Approaching Preterm Birth as a Common Complex Disorder, Dr. Siobhan Dolan Assistant Professor in the Department of Obstetrics and Gynecology and Women’s Health at the Albert Einstein College of Medicine / Montefiore Medical Center, New York City. Assistant Professor in the Department of Obstetrics and Gynecology and Women’s Health at the Albert Einstein College of Medicine / Montefiore Medical Center, New York City. Medical epidemiologist with the National Office of Public Health Genomics at the Centers for Disease Control and Prevention in Atlanta, Georgia, Medical epidemiologist with the National Office of Public Health Genomics at the Centers for Disease Control and Prevention in Atlanta, Georgia, Faculty in the Human Genetics Program, Sarah Lawrence College in Bronxville, NY, Faculty in the Human Genetics Program, Sarah Lawrence College in Bronxville, NY, Discuss risk factors and clinical approaches to preterm birth Outline genetics and genomics principles Introduce preterm birth as a common complex disorder Propose a framework for a genomic approach to research in preterm birth

13. Genetics, Genomics, Epidemiology, and MCH Plenary Presentations