genetic risk assessment and genetic counseling research
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Genetic Risk Assessment and Genetic Counseling Research. John Quillin Human Genetics Virginia Commonwealth University. Outline for today. Of Risk and Popcorn Cancer Risk Factors Genetic Risk Assessment Implications for Cancer Control Genetic Counseling Research. Of Risk and Popcorn. - PowerPoint PPT PresentationTRANSCRIPT
30 January 200630 January 2006
Genetic Risk Genetic Risk Assessment and Assessment and Genetic Counseling Genetic Counseling ResearchResearchJohn QuillinJohn QuillinHuman GeneticsHuman GeneticsVirginia Commonwealth UniversityVirginia Commonwealth University
Outline for todayOutline for today Of Risk and PopcornOf Risk and Popcorn Cancer Risk FactorsCancer Risk Factors Genetic Risk AssessmentGenetic Risk Assessment Implications for Cancer ControlImplications for Cancer Control Genetic Counseling ResearchGenetic Counseling Research
Of Risk and PopcornOf Risk and Popcorn
Of Risk and PopcornOf Risk and Popcorn
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Cumulative Risk
What determines if a What determines if a kernal pops?kernal pops?
External factorsExternal factors How long it’s in the microwaveHow long it’s in the microwave The type of microwaveThe type of microwave Oil/seasoningsOil/seasonings
Internal factorsInternal factors Genes (genetically-modified corn??)Genes (genetically-modified corn??) Soil/nutrientsSoil/nutrients
Breast Cancer RiskBreast Cancer Risk
0
50
100
150
200
250
0 to 20 20 to 40 40 to 60 60 to 80 80 to 95+
Years
# pe
r 25
0 w
ith
Bre
ast
Can
cer
What affects cancer risk?What affects cancer risk?
DietTobaccoHereditaryOccupationRadiationVirusesOther
Sporadic Familial Mendelian
Family History and Chance of Breast Cancer
0
10
20
30
40
50
60
70
80
90
100
Mother Two Paternal Aunts Mother and MaternalAunt
Mother and Sister
Family History
Num
ber w
ith B
reas
t Can
cer o
ut o
f 10
0 W
omen
Claus, 1990
Twin StudiesTwin StudiesBreast Cancer in Twins
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Identical Twins Fraternal Twins
Perc
ent W
ithin
Eac
h G
roup
One Has CancerBoth Have Cancer
N Engl J Med 2000;343:78-85
Causes of Breast Cancer
27%
6%
67%
Genetics Shared Environment Unique Environment
BRCA1 and BRCA2BRCA1 and BRCA2
Science 2003;302(5645):643-6
More likely to be More likely to be hereditary if…hereditary if…
Earlier-than-expected age of onsetEarlier-than-expected age of onset Multiple primary cancersMultiple primary cancers Rare cancersRare cancers Inheritance patternInheritance pattern Syndrome (malignant and non-malignant Syndrome (malignant and non-malignant
characteristics)characteristics) No clear environmental associationNo clear environmental association
Peutz-Jeghers SyndromePeutz-Jeghers Syndrome
Cancer Control Cancer Control ImplicationsImplications
Primary preventionPrimary prevention Medication (e.g., tamoxifen, sulindac)Medication (e.g., tamoxifen, sulindac) Risk-reducing surgeryRisk-reducing surgery Lifestyle (e.g., exercise)Lifestyle (e.g., exercise) Diet (coffee??)Diet (coffee??)
Secondary preventionSecondary prevention Timing (age of initiation, interval)Timing (age of initiation, interval) Method (MRI)Method (MRI) Whether or not to screen at allWhether or not to screen at all
Cancer Control Cancer Control ImplicationsImplications
Tertiary preventionTertiary prevention ChemotherapyChemotherapy Extent of surgeryExtent of surgery RadiationRadiation
Why genetic counseling?Why genetic counseling? Risk communication is complicatedRisk communication is complicated Diagnosis/risk assessment often precedes Diagnosis/risk assessment often precedes
effective interventioneffective intervention Right not to knowRight not to know Psychosocial cost/benefitPsychosocial cost/benefit
Limitations of testing (VUS, false negative)Limitations of testing (VUS, false negative) ExpensiveExpensive DiscriminationDiscrimination
Tailored Treatment and Prevention
Improved Public Health
Cancer Diagnosis
Genetic Counseling
Discussion with Family Members
High Riskfor Cancer
A lot of focus here
GENETIC COUNSELING RESEARCH
Maternal/Paternal HistoryMaternal/Paternal History
SummarySummary About 5-10% cancers hereditaryAbout 5-10% cancers hereditary Prevention/management implicationsPrevention/management implications DNA testing available butDNA testing available but
Imperfect, expensive, complicatedImperfect, expensive, complicated Identification and access are important Identification and access are important
challengeschallenges