Genetics, Genomics, Genetics, Genomics, Epidemiology, and MCHEpidemiology, and MCHGenetics, Genomics, Genetics, Genomics, Epidemiology, and MCHEpidemiology, and MCH

Plenary, XII MCHEPI Annual ConferencePlenary, XII MCHEPI Annual Conference

Atlanta, December 6-8, 2006Atlanta, December 6-8, 2006

“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

So…what’s the point?So…what’s the point? Have we in MCH been “meeting” [using] the Have we in MCH been “meeting” [using] the

wrong variables to explain hard-to-understand wrong variables to explain hard-to-understand outcomes?outcomes?

Should we be satisfied by keeping all our [large] Should we be satisfied by keeping all our [large] uncertainty as the error term [“E” ] in our multi-uncertainty as the error term [“E” ] in our multi-variable analytical models?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 We, as epidemiologists, should be grateful for

what Genetics is bringing to the analytical plate!what Genetics is bringing to the analytical plate!

Genetics/genomics at-a-glanceGenetics/genomics at-a-glance Genetics/genomics at-a-glanceGenetics/genomics at-a-glance

…what’s next …?

phenotype genes sequencing testing genome genomics

OC

no OC

OC

no OC

V

no FV

thrombotic disease

+ -*

*: x1000

General population with genetic testing

.

New analytical paradigm for epidemiologists: New analytical paradigm for epidemiologists: introducing the “genetic risk factor” into the introducing the “genetic risk factor” into the equationequation

relationship once Factor relationship once Factor V (genetic predisposition) V (genetic predisposition) has been introduced:has been introduced:

thrombotic disease

+ -*

OC

no OC

RR: 2.0

4

2

10

10

503

.28

10

4

10

2

RR

33

8

1.

8

ref

General population w/o genetic testing

Immediate implications for an outcome with 3 Immediate implications for an outcome with 3 potential 2-allele genes involved potential 2-allele genes involved ((AA,,aa,,BB,,bb,C,,C,cc):):

E

non- E

O non-O

E

Non- E

O non-O

A B C

a b c

16

2

Even more complex…Even more complex… What are the costs of alternatives when What are the costs of alternatives when

testing is available? How to measure it?testing is available? How to measure it? How will it affect populations after it is How will it affect populations after it is

introduced? Are confounding relationships introduced? Are confounding relationships going to change?going to change?

How to quantify risk given the genetic How to quantify risk given the genetic characteristics of the “genetic risk factor”?characteristics of the “genetic risk factor”?

What happens when there are more than What happens when there are more than one, two, or more genes involved?one, two, or more genes involved?

……and more!and more!

Human Genome EpidemiologyHuman Genome Epidemiology, Dr. Cindy , Dr. Cindy MooreMoore

Associate Director for Science, National Associate Director for Science, National Office of Public Health Genomics, Centers Office of Public Health Genomics, Centers for Disease Control and Prevention for Disease Control and Prevention

M.D. and pediatrics residency, University of M.D. and pediatrics residency, University of Tennessee Center for the Health SciencesTennessee Center for the Health Sciences

Clinical fellowship and Ph.D. in medical Clinical fellowship and Ph.D. in medical genetics, Indiana University School of genetics, Indiana University School of Medicine. Medicine.

Much of her 15-year career at CDC has Much of her 15-year career at CDC has been in the area of birth defects research been in the area of birth defects research

Contributor to the National Children’s StudyContributor 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.

Challenges and opportunities of integrating Challenges and opportunities of integrating genetics into MCH studiesgenetics into MCH studies, Dr. Sonja , Dr. Sonja RasmussenRasmussen

Medical Officer for CDC’s National Center on Medical Officer for CDC’s National Center on Birth Defects and Developmental Disabilities. Birth Defects and Developmental Disabilities.

Master’s degree in Medical Genetics from the Master’s degree in Medical Genetics from the University of Wisconsin University of Wisconsin

M.D. degree with honors from University of M.D. degree with honors from University of Florida College of Medicine. Florida College of Medicine.

Pediatrics residency training at Massachusetts Pediatrics residency training at Massachusetts General Hospital and her fellowship training in General Hospital and her fellowship training in Clinical Genetics at Johns Hopkins Hospital Clinical Genetics at Johns Hopkins Hospital and University of Florida. 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

Quantifying The Health Benefits Of Genetic Quantifying The Health Benefits Of Genetic Testing In Economic EvaluationsTesting In Economic Evaluations, Dr. Scott , Dr. Scott GrosseGrosse

Scott Grosse is a Senior Health Scott Grosse is a Senior Health Economist in the Office of the Director, Economist in the Office of the Director, National Center on Birth Defects and National Center on Birth Defects and Developmental Disabilities at CDC. Developmental Disabilities at CDC.

Doctoral studies in economics and public Doctoral studies in economics and public health at the University of Michigan. health at the University of Michigan.

Prevention Effectiveness Fellow in 1996 Prevention Effectiveness Fellow in 1996 at CDCat CDC

He conducts research on the economic He conducts research on the economic costs associated with genetic disorders, costs associated with genetic disorders, birth defects, and developmental birth defects, and developmental disabilities disabilities

•Economic evaluation can show value for money spent•Economic evaluation requires estimation of health benefits•Good economic evaluations rely on sound epidemiology

Preterm Birth: Genetics to Genomics. A Preterm Birth: Genetics to Genomics. A Framework for Approaching Preterm Birth Framework for Approaching Preterm Birth as a Common Complex Disorderas a Common Complex Disorder, Dr. , Dr. Siobhan DolanSiobhan Dolan

Assistant Professor in the Department of Assistant Professor in the Department of Obstetrics and Gynecology and Women’s Obstetrics and Gynecology and Women’s Health at the Albert Einstein College of Health at the Albert Einstein College of Medicine / Montefiore Medical Center, New Medicine / Montefiore Medical Center, New York City. York City.

Medical epidemiologist with the National Medical epidemiologist with the National Office of Public Health Genomics at the Office of Public Health Genomics at the Centers for Disease Control and Prevention Centers for Disease Control and Prevention in Atlanta, Georgia, in Atlanta, Georgia,

Faculty in the Human Genetics Program, Faculty in the Human Genetics Program, Sarah Lawrence College in Bronxville, NY, 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

Genetics, Genomics, Genetics, Genomics, Epidemiology, and MCHEpidemiology, and MCH

Plenary PresentationsPlenary Presentations

Genetics, Genomics, Genetics, Genomics, Epidemiology, and MCHEpidemiology, and MCH

Plenary PresentationsPlenary Presentations