Muin J. Khoury, MD, Ph.D. - Home | Public Population ... 2003... · Lung Cancer. NAT2 6.0 40% ... severity, prognosis, and interaction with modifiable ... Serum from 474; 52 positive

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Genomics and Health in the 21Genomics and Health in the 21stst Century:Century:Public Health Approaches Public Health Approaches and Global Collaboration and Global Collaboration

Muin J. Khoury, MD, Ph.D.Muin J. Khoury, MD, Ph.D.

Director,Director,CDC Office of Genomics and Disease PreventionCDC Office of Genomics and Disease Prevention

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OutlineOutline

•• Genomics: Science and ExpectationsGenomics: Science and Expectations•• Major Gaps in Translating New Science Major Gaps in Translating New Science

into Population Health Benefitsinto Population Health Benefits•• Need for a “Public Health” Approach Need for a “Public Health” Approach •• CDC response to GenomicsCDC response to Genomics•• Global Collaboration: Human Genome Global Collaboration: Human Genome

Epidemiology Network (HuGE Net) Epidemiology Network (HuGE Net)

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OutlineOutline

•• Genomics: Science and ExpectationsGenomics: Science and Expectations•• Major Gaps in Translating New Science Major Gaps in Translating New Science

into Population Health Benefitsinto Population Health Benefits•• Need for a “Public Health” Approach Need for a “Public Health” Approach •• CDC response to GenomicsCDC response to Genomics•• Global Collaboration: Human Genome Global Collaboration: Human Genome

Epidemiology Network (HuGE Net)Epidemiology Network (HuGE Net)

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20032003Year of the Human GenomeYear of the Human Genome

•• DNA 50DNA 50thth AnniversaryAnniversary

•• Human Genome SequenceHuman Genome Sequence

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“DNA Changed the World: Now What?”“DNA Changed the World: Now What?”NY Times, February 25, 2003NY Times, February 25, 2003

Vision of Genomics in Practice: Vision of Genomics in Practice: Hypothetical Case Scenario in 2010Hypothetical Case Scenario in 2010

•• ConditionCondition Genes Genes RR LifetimeRR Lifetime

•• Prostate Ca Prostate Ca HPC1, 2, 3HPC1, 2, 3 0.40.4 7%7%•• Alzheimer’s Alzheimer’s APOE,FAD3,XAD APOE,FAD3,XAD 0.3 10%0.3 10%•• Heart disease Heart disease APOB,CETPAPOB,CETP 2.5 70%2.5 70%•• Colon CancerColon Cancer FCC4,APCFCC4,APC 4.0 23%4.0 23%•• Lung CancerLung Cancer NAT2NAT2 6.0 40%6.0 40%

Collins FC, New Collins FC, New EnglEngl J Med 1999;341:28J Med 1999;341:28--37.37.

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MendelianMendelian Disorders Featuring CAD/MIDisorders Featuring CAD/MI

Apolipoprotein(aApolipoprotein(a) excess) excessApolipoproteinApolipoprotein AI deficiencyAI deficiencyAutosomalAutosomal recessive recessive

hypercholesterolemiahypercholesterolemiaCerebrotendinousCerebrotendinous

xanthomatosisxanthomatosisFabryFabry diseasediseaseFamilial combined Familial combined

hyperlipidemiahyperlipidemiaFamilial defective Familial defective apoBapoBFamilial Familial

hypercholesterolemiahypercholesterolemiaFamilial partial Familial partial lipodystrophylipodystrophyFamilial pseudo hyper Familial pseudo hyper

kalemiakalemia due to due to RBClRBCl leakleak

Heparin cofactor II deficiencyHeparin cofactor II deficiencyHomocystinuria/homocysteinemiHomocystinuria/homocysteinemi

aaNiemannNiemann--Pick disease, type EPick disease, type EProgeriaProgeriaProtein C deficiencyProtein C deficiencyPseudoxanthomaPseudoxanthoma elasticumelasticumSitosterolemiaSitosterolemiaSpontaneous coronary Spontaneous coronary

dissectiondissectionTangier diseaseTangier diseaseType III Type III hyperlipoproteinemiahyperlipoproteinemiaWerner syndromeWerner syndromeWilliams syndromeWilliams syndrome

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Genetics and Cardiovascular DiseaseGenetics and Cardiovascular Disease

Lp(a)

Health Status

Diabetes LDL

Smoking Cholesterol

BloodPressure

Obesity Exercise

Triglycerides

Homocysteine

Fibrinogen

Stress Nutrition

Insulin

GENES

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GeneGene--Environment Interaction in Environment Interaction in Cardiovascular DiseaseCardiovascular Disease

•• ““Some vegetarians with Some vegetarians with 'acceptable' cholesterol 'acceptable' cholesterol levels suffer levels suffer myocardial infarction in myocardial infarction in the 30's. Other the 30's. Other individuals...seem to individuals...seem to live forever despite live forever despite personal stress, personal stress, smoking, obesity, and smoking, obesity, and poor adherence to a poor adherence to a Heart AssociationHeart Association--approved diet"approved diet"

R.A. R.A. HegeleHegele (1992)(1992)

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Prediction of Risk of Myocardial Infarction Prediction of Risk of Myocardial Infarction from Polymorphisms in Candidate Genesfrom Polymorphisms in Candidate Genes

Yamada et al. NEJM 2002;347:1916Yamada et al. NEJM 2002;347:1916--1923.1923.

•• CaseCase--Control Study (5061 MI and 2242 Control Study (5061 MI and 2242 Controls)Controls)

•• Analysis of 71 candidate genes with 112 Analysis of 71 candidate genes with 112 polymorphisms (2polymorphisms (2--step process)step process)

•• A few associations were found…small odds A few associations were found…small odds ratios…ratios…

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Prediction of Risk of Myocardial Infarction Prediction of Risk of Myocardial Infarction from Polymorphisms in Candidate Genesfrom Polymorphisms in Candidate Genes

Yamada et al. NEJM 2002;347:1916Yamada et al. NEJM 2002;347:1916--1923.1923.

•• CaseCase--Control Study (5061 MI and 2242 Control Study (5061 MI and 2242 Controls)Controls)

•• Analysis of 71 candidate genes with 112 Analysis of 71 candidate genes with 112 polymorphisms (2polymorphisms (2--step process)step process)

•• A few associations were found…small odds A few associations were found…small odds ratios…ratios…

•• Accompanying editorialAccompanying editorial–– “Findings should be used to initiate further “Findings should be used to initiate further

researchresearch–– Recommendations for primary prevention cannot Recommendations for primary prevention cannot

be based on these findings.”be based on these findings.”

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“Genetic Defect Doubles “Genetic Defect Doubles Colon Cancer Risk”Colon Cancer Risk”

•• ““Researchers have found a Researchers have found a new genetic defect present new genetic defect present in one of every 17 in one of every 17 American Jews that American Jews that doubles a person's colon doubles a person's colon cancer risk. cancer risk. The good news The good news is that scientists have is that scientists have developed a blood test, developed a blood test, available for $200, that can available for $200, that can detect this genetic defect. detect this genetic defect. The test is advisable for The test is advisable for everyone in the everyone in the AshkhenaziAshkhenazipopulation, whether they population, whether they have a family history of have a family history of colon cancer or not.”colon cancer or not.”

•• http://http://www.preventcancer.orwww.preventcancer.orgg/ / coloncancer.htmlcoloncancer.html

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From gene discovery to improving health and preventing disease:

How do we get from here to there?

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Gene Discovery is not Enough!Gene Discovery is not Enough!Major Gaps in Translating Genome Major Gaps in Translating Genome

Discoveries into Population Health BenefitsDiscoveries into Population Health Benefits

Role of genomic information inRole of genomic information inpopulation health?population health?

(35,000 genes) (35,000 genes)

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Value of genomic information in treatment and prevention?

(1000+ tests)


(35,000 genes) (35,000 genes)

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(1000+ tests)


(35,000 genes) (35,000 genes)

Implementation of genomics in practice?

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What is Public Health?What is Public Health?

•• ““What we as a What we as a society do society do collectively to assure collectively to assure the conditions in the conditions in which people can be which people can be healthy”healthy”

•• Focus on population Focus on population health, prevention, health, prevention, and access and access

Institute of Medicine 1988Institute of Medicine 1988

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•• Critical areasCritical areasInformaticsInformaticsGenomicsGenomicsCommunicationCommunicationCultural competenceCultural competenceCommunityCommunity--based researchbased researchGlobal healthGlobal healthPolicy and lawPolicy and lawPublic health ethicsPublic health ethics

Institute of Medicine, 2002Institute of Medicine, 2002

Who Will Keep the Public Healthy?Who Will Keep the Public Healthy?(IOM, 2002)(IOM, 2002)

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Genomics at CDC 2003: Genomics at CDC 2003: the USA “Prevention” Agencythe USA “Prevention” Agency

–– 1997: Strategic Plan 1997: Strategic Plan & Office of & Office of Genomics & Genomics & Disease PreventionDisease Prevention

–– Partnerships & Partnerships & Model Projects Model Projects

–– 2003: Genomics in 2003: Genomics in the Director’s Officethe Director’s Office

–– 2003: CDC’s Futures 2003: CDC’s Futures InitiativeInitiative

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““Using Genetic Information to Improve Health Using Genetic Information to Improve Health and Prevent Disease Across the Lifespan”and Prevent Disease Across the Lifespan”

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(35,000 genes) (35,000 genes)

Public Health and Translation of Genome Public Health and Translation of Genome Discoveries into Population Health BenefitsDiscoveries into Population Health Benefits

Examples of CDC effortsExamples of CDC efforts

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(35,000 genes) (35,000 genes)



Guiding PrinciplesGuiding Principles

1. Moving beyond gene discovery to population characterizat1. Moving beyond gene discovery to population characterization ion 2. Assessing communities/representative groups in real time 2. Assessing communities/representative groups in real time 3. Assessing interaction of genomic variation with “enviro3. Assessing interaction of genomic variation with “environment”nment”

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Human Genome Epidemiology - HuGE

Population HealthPopulation Health

“Systematic application of epidemiologic methods and approaches to assess the impact of human genetic variation on health and disease”

Khoury, Little and Burke, HuGE 2004

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Human Genome Epidemiology - HuGE

Population HealthPopulation Health

“Systematic application of epidemiologic methods and approaches to assess the impact of human genetic variation on health and disease”

Khoury, Little and Burke, HuGE 2004

• Genotype prevalence• Gene - disease association• Gene - gene interactions• Gene - environment interactions • Genetic tests for screening and prevention

Examples of CDC Epidemiologic Efforts to Examples of CDC Epidemiologic Efforts to Assess Gene Variants in Population HealthAssess Gene Variants in Population Health

•• CrossCross--Sectional Sectional StudiesStudies

•• CaseCase--Control StudiesControl Studies

•• Cohort StudiesCohort Studies

•• Acute Public Health Acute Public Health Investigations

•• NHANESNHANES

•• National Birth Defects National Birth Defects Prevention Study Prevention Study

•• HIV studiesHIV studies•• Kenya birth cohortKenya birth cohort

•• LeptospirosisLeptospirosis OutbreakInvestigations Outbreak

Examples of CDC Epidemiologic Efforts to Examples of CDC Epidemiologic Efforts to Assess Gene Variants in Population HealthAssess Gene Variants in Population Health

•• CrossCross--Sectional Sectional StudiesStudies

•• CaseCase--Control StudiesControl Studies

•• Cohort StudiesCohort Studies

•• Acute Public Health Acute Public Health InvestigationsInvestigations

•• NHANESNHANES

•• National Birth Defects National Birth Defects Prevention Study Prevention Study

•• HIV studiesHIV studies•• Kenya birth cohortKenya birth cohort

•• LeptospirosisLeptospirosis OutbreakOutbreak

Planned pilot study: based on NBS cohortPlanned pilot study: based on NBS cohortNIH collaboration: National Children StudyNIH collaboration: National Children Study

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Hereditary HemochromatosisHereditary Hemochromatosis

•• ““The Genetic Disorder The Genetic Disorder of the 21of the 21stst Century”Century”

•• Iron OverloadIron Overload•• Multiple organ systemMultiple organ system•• Intervention: simpleIntervention: simple•• Gene Chromosome 6 Gene Chromosome 6 •• 1997 Expert Panel on 1997 Expert Panel on

Population ScreeningPopulation Screening•• Public health research Public health research

AgendaAgenda

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Prevalence of Prevalence of Hereditary Hereditary HemochromatosisHemochromatosis

Mutations in the USAMutations in the USA

NHANES IIINHANES III

Genotype Prevalence (%)Genotype Prevalence (%)Genotype/Group White Black Genotype/Group White Black HispHisp

C282Y/C282YC282Y/C282Y 0.3 .06 .030.3 .06 .03H63D/H63D H63D/H63D 2.2 0.3 1.12.2 0.3 1.1C282Y/H63D C282Y/H63D 2.4 .06 0.22.4 .06 0.2

Steinberg KK et al., JAMA 2001;285:2216Steinberg KK et al., JAMA 2001;285:2216

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HemochromatosisHemochromatosis--Associated Hospitalizations, Associated Hospitalizations, National Hospital Discharge Survey 1979National Hospital Discharge Survey 1979--19971997

Rat

e pe

r 10

0,00

0 U

S re

side

nts

79 - 82 83 - 87 88 - 92 93 – 97Years

1

2

3

0femalesmales

Brown al et al. Genet Med 2001;3:109Brown al et al. Genet Med 2001;3:109--111 111

5

4

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0

5

10

15

20

25

30

0 10 20 30 40 50 60AgeAge

Bod

y Iro

n C

onte

nt in

gra

ms

Bod

y Iro

n C

onte

nt in

gra

ms

AsymptomaticAsymptomatic

NonNon--specific specific symptomssymptoms

Signs of organ damageSigns of organ damage

Bronze Bronze diabetesdiabetes

Early deathEarly death

Natural History of Hereditary HemochromatosisNatural History of Hereditary Hemochromatosis

MutationMutation

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Centers for Birth DefectsResearch and Prevention

Arkansas California Georgia

North CarolinaTexasUtah

IowaMassachusettsNew JerseyNew York

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National Birth Defects Prevention Study

•• CaseCase--control study of 24 major birth control study of 24 major birth defects started in 1997defects started in 1997

•• Based on state surveillance systemsBased on state surveillance systems

•• Maternal interviewMaternal interview

•• BuccalBuccal cell (DNA) collection from infant cell (DNA) collection from infant and parentsand parents

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Studying GeneStudying Gene--Environment Environment InteractionInteraction

Smoking, detoxification genes, and orofacial clefts

Baby with cleft lip

Questions from interview:

• Did you ever smoke cigarettes?• At any time from 2/3/97 to

1/28/98 did you smoke?• During which months?• How many cigarettes?

Is theregene –

environment interaction?

DNA for examination of genes involved in

detoxification

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Studies of Genetic Factors and HIV InfectionStudies of Genetic Factors and HIV Infection

US HIV Epidemiology Research Study (HERS)US HIV Epidemiology Research Study (HERS)•• Prospective cohort study of 1200 minority females at Prospective cohort study of 1200 minority females at

high risk for HIV infectionhigh risk for HIV infection

•• Search for genes assoc with resistance to infection and Search for genes assoc with resistance to infection and progression to AIDSprogression to AIDS

Highly Exposed, Persistently Seronegative (HEPS)Highly Exposed, Persistently Seronegative (HEPS)Thailand Thailand

•• Higher freq of CCR5 promotor 59402GG and SDFHigher freq of CCR5 promotor 59402GG and SDF--1 1 3’UTR 801A genotypes3’UTR 801A genotypes

•• Useful for vaccine design and other prevention strategies Useful for vaccine design and other prevention strategies

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Survival Analysis for a birth cohort of 1002 children Survival Analysis for a birth cohort of 1002 children by by HbSSHbSS status, status, KisumuKisumu, Kenya, Kenya

((AidooAidoo M, et al. Lancet 2002, 359:1311M, et al. Lancet 2002, 359:1311--2)2)

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Integrating Human Genomics into Integrating Human Genomics into Acute Public Health InvestigationsAcute Public Health Investigations

Environment Susceptibility genes

OutbreaksOutbreaks

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Integrating Human Genomics into Integrating Human Genomics into Acute Public Health InvestigationsAcute Public Health Investigations

What can be assessed?What can be assessed?

•• Genomic risk factors Genomic risk factors –– effect on susceptibility, resistance, effect on susceptibility, resistance, severity, prognosis, and interaction with modifiable severity, prognosis, and interaction with modifiable risk factors risk factors

•• Exposure profiles Exposure profiles –– use of mRNA transcriptsuse of mRNA transcripts•• Variation in outcomes Variation in outcomes –– use of protein expressionuse of protein expression

What public health and clinical interventions?What public health and clinical interventions?•• vaccinationvaccination•• exposure reductionexposure reduction•• behavioral interventionbehavioral intervention•• therapeuticstherapeutics

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1998 Springfield Ironhorse Triathlon1998 Springfield Ironhorse TriathlonLeptospirosis Outbreak Leptospirosis Outbreak

•• 876 triathletes; 12% reported illness 876 triathletes; 12% reported illness

•• Serum from 474; 52 positive for leptospirosisSerum from 474; 52 positive for leptospirosis

Genetic studies: TNFGenetic studies: TNF--a, HLAa, HLA--DRB, HLADRB, HLA--DQBDQB

•• DNA from 85 anonymized blood samplesDNA from 85 anonymized blood samples

•• HLAHLA--DQ6 positive triathletes (compared to DQ6 negatives) DQ6 positive triathletes (compared to DQ6 negatives) were were -- more likely be seropositive for leptospirosis more likely be seropositive for leptospirosis (OR=2.8, p=0.04)(OR=2.8, p=0.04)-- especially for those who reported swallowing lake water especially for those who reported swallowing lake water (OR=8.5, p=0.001)(OR=8.5, p=0.001)

LingappaLingappa J. et al., Genes & Immunity (in press) J. et al., Genes & Immunity (in press)

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Example of CDC effortsExample of CDC efforts


(1000+ tests)

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Example of CDC effortsExample of CDC efforts


(1000+ tests)

Guiding PrincipleGuiding PrincipleWhy should we change traditional prevention Why should we change traditional prevention strategies to include genomics? What is the strategies to include genomics? What is the “value“value--added” of genomics/ family history in added” of genomics/ family history in disease prevention and health promotion?disease prevention and health promotion?

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Public Health Assessment of Genetic TestingPublic Health Assessment of Genetic Testing

Evidence-based evaluation needed at two key points:

• Transition from research to clinical practice• Establish safety and efficacy • Balance market / advocacy pressures to rush tests

to market• Post-implementation period

• Demonstrate acceptable performance in practice• Assess implementation success and public health

impact

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Effective Intervention(Benefit)

NaturalHistory

EconomicEvaluation

QualityAssurance

Education Facilities

PilotTrials

Monitoring&

Evaluation

Ethical, Legal, &Social Implications(safeguards& impediments)

HealthRisks

ClinicalSpecificity

ClinicalSensitivityPrevalence

PPVNPV

Penetrance

AssayRobustness

QualityControl

AnalyticSpecificity

AnalyticSensitivity

Disorder&

Setting

• Disorder & setting•• AAnalytic validity•• CClinical validity•• CClinical utility•• EEthical, legal & social

implications• Sections divided into

> 40 targeted questions

Systematic Reviews of Genetic Tests Systematic Reviews of Genetic Tests --ACCEACCE

Foundation for Blood ResearchCDC project

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Family History Public Health Initiative

Why focus on family history?

• FHx is underutilized in preventive medicine

• Risk factor for most chronic diseases of PH significance

How can we use family history?

• assess risk for common chronic diseases

• influence early screening for disease

• educate people about prevention measures

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Family history is a risk factor for many chronic diseases

Relative Risk

Heart disease 2.0 – 5.4Breast cancer 2.1 – 3.9Colorectal cancer 1.7 – 4.9Prostate cancer 3.2 – 11.0Melanoma 2.7 – 4.3Type II diabetes 2.4 – 4.0Osteoporosis 2.0 – 2.4Asthma 3.0 – 7.0

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Family History of Common DiseasesFamily History of Common Diseases

2% 8%

33%

57%

One disorder

Two disordersThree or more disorders

No family history

Scheuner et al. Am J Med Genet 1997;71:315-324.

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Using Family History for Disease Prevention

Classification InterventionAssessment

Standard prevention recommendations

Average

Family History

Tool

Personalized prevention recommendationsModerate

Genetic evaluation and personalized prevention recommendations

High

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Family History Public Health Initiative

Evaluate the use of family history for assessing risk of common diseases and influencing early detection and prevention strategies

• Phase 1 – Assessment of existing strategies and development of criteria for FHx tool

• Phase 2 – Tool development

• Phase 3 – Pilot testing and evaluation

• Phase 4 - public health campaign and provider education programs

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Guiding PrinciplesGuiding Principles1.1. Need for readiness of health system 2.2. Need for continuous monitoring and Need for continuous monitoring and

outcomes evaluation

Need for readiness of health system

outcomes evaluation

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“To put prevention know-how into action in communities requires more

than just the initial discovery.”

- Claire Broome M.D., CDC Director (1998)

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”Clinical Research to Clinical ”Clinical Research to Clinical Practice Practice —— Lost in Translation?”Lost in Translation?”

C. C. LenfantLenfant NEJM 2003;349:868NEJM 2003;349:868

•• < 33% of patients < 33% of patients withwith coronary artery coronary artery disease are disease are prescribed aspirinprescribed aspirin

”Let's be realistic:”Let's be realistic: If If we didn't do it with we didn't do it with aspirin, how can aspirin, how can we expect to do itwe expect to do it

with DNA?”with DNA?”

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Ongoing Public Health Assessment of Ongoing Public Health Assessment of Impact of DTC CampaignImpact of DTC Campaign

•• 4 Health Departments4 Health Departments•• 2 “Exposed” Cities: Atlanta & Denver2 “Exposed” Cities: Atlanta & Denver•• 2 “Unexposed” Cities: Raleigh & Seattle2 “Unexposed” Cities: Raleigh & Seattle•• Survey of Women Ages 25Survey of Women Ages 25--54 (N=1635)54 (N=1635)•• Survey of Health Care Providers (N=1070)Survey of Health Care Providers (N=1070)•• Knowledge, Attitudes, Behaviors, PracticesKnowledge, Attitudes, Behaviors, Practices•• Association with Source of Information Association with Source of Information

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Human Genome Epidemiology Human Genome Epidemiology Network (HuGE Net)Network (HuGE Net)

•• Global collaboration of individuals and Global collaboration of individuals and organizations to assess population impact of organizations to assess population impact of genomics and how it can be used to improve genomics and how it can be used to improve health and prevent diseasehealth and prevent disease

–– Information ExchangeInformation Exchange–– Training and Technical AssistanceTraining and Technical Assistance–– Knowledge BaseKnowledge Base–– Information DisseminationInformation Dissemination–– Policy DevelopmentPolicy Development

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HuGE Net Products 2003HuGE Net Products 2003

•• ReviewsReviews•• Fact sheetsFact sheets•• EE--journal clubsjournal clubs•• Case studiesCase studies•• Published Literature DatabasePublished Literature Database•• Methods workshop/guidelines Methods workshop/guidelines •• Training workshopsTraining workshops•• Book Book

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HuGE Net Products 2003HuGE Net Products 2003

•• ReviewsReviews•• Fact sheetsFact sheets•• EE--journal clubsjournal clubs•• Case studiesCase studies•• Published Literature DatabasePublished Literature Database•• Methods workshop/guidelines Methods workshop/guidelines •• Training workshopsTraining workshops•• Book Book •• Planned for 2004Planned for 2004

–– Developing Global HuGE Capacity Developing Global HuGE Capacity (Collaborating HuGE Units)(Collaborating HuGE Units)

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HuGE NetHuGE Net--P3G Collaboration:P3G Collaboration:Possible TopicsPossible Topics

•• Workshops:Workshops: e.g., study design, candidate e.g., study design, candidate genes, standardization, analysis, interpretation, genes, standardization, analysis, interpretation, synthesis synthesis

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•• Systematic Reviews:Systematic Reviews: e.g., genee.g., gene--disease disease associations associations

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•• Online Databases:Online Databases: e.g. repository of studies, e.g. repository of studies, tools, published and unpublished data tools, published and unpublished data

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•• Online Databases:Online Databases: e.g. repository of studies, e.g. repository of studies, tools, published and unpublished data tools, published and unpublished data

•• Communication Materials:Communication Materials: e.g., summaries, fact e.g., summaries, fact sheets to help policy, practice and consumerssheets to help policy, practice and consumers

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ConclusionsConclusions

•• Unrealistic expectations of genomicsUnrealistic expectations of genomics•• Major gaps exist in translating genomics Major gaps exist in translating genomics

into population health benefits into population health benefits •• We need a public health approach to make We need a public health approach to make

sense of genomicssense of genomics•• Summary of CDC efforts since 1997Summary of CDC efforts since 1997

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ConclusionsConclusions

•• Unrealistic expectations of genomicsUnrealistic expectations of genomics•• Major gaps exist in translating genomics Major gaps exist in translating genomics

into population health benefits into population health benefits •• We need a public health approach to make We need a public health approach to make

sense of genomicssense of genomics•• Summary of CDC efforts since 1997 Summary of CDC efforts since 1997

•• Need for global collaboration in population Need for global collaboration in population research, policy development and research, policy development and implementationimplementation

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(1000+ tests)


(35,000 genes) (35,000 genes)


Documents

Muin J. Khoury, MD, Ph.D. - Home | Public Population ... 2003... · Lung Cancer. NAT2 6.0 40% ... severity, prognosis, and interaction with modifiable ... Serum from 474; 52 positive