Why are familial cancer referral rates lower for BME
groups?
The Midlands and UK perspective
Dr Julian Barwell
Genetic Alliance UK
Cardiology
Fetal Medicine
Mendelian Genetics
Common referrals
Dysmorphology
Chromosomal
Cancer
Cardiology
Fetal Medicine
Mendelian Genetics
Common referrals
Dysmorphology
Chromosomal
Cancer
At risk relatives
? Need screening/predictive testing
Affected-? Mendelian
Cardiology
Fetal Medicine
Mendelian Genetics
Common referrals
Dysmorphology
Chromosomal
Cancer referrals
11%
In UK
Referrals to cancer genetics 5%
BME proportion 7.9 %
Non-cancer 23%
BME proportion 24%
Cardiology
Fetal Medicine
Mendelian Genetics
Common referrals
Dysmorphology
Chromosomal
Cancer rates
Discussing cancer
Discussing genetics
Linking familial cancer to
inherited risk to patient
West/east midland familial cancer referrals
National familial cancer referrals
• Approximately 5-10% of cancers are associated
with genetic mutations
– 5-10% breast
– 10-15% ovarian
– 6% colorectal
Reason for
referral
Male
Female
Both sexes
Breast
7 (1%)
526 (99%)
61%
Bowel
43 (32%)
93 (68%)
16%
Breast and bowel
1 (5%)
18 (95)
2%
Ovary
-
106
12%
Other
13 (17%)
62 (83%)
10%
Worldwide Cancer Rates
Cancer rates in
South Asia: 5 times
lower than in
Western Europe
Worldwide incidence – South Asia
All cancers
Breast
Ovarian
Colorectal
266.9
89.1
12.4
30.8
India
98.5
3.3 times
22.9
5.7
7.3 times
3.9
Pakistan
114.7
31.5
5.8
4.6
Bangladesh
124.8
27.2
4.0
4.2
UK
Age-standardised rates (per 100,000)
Data from GLOBOCAN 2008
2.4 times
Bowel Cancer European Age-Standardised Incidence Rate, by
Government Office Region, 2006-2008
Referral Rates
BME
Leicestershire
24.4 %
Referral Rates
11.2%
UK
7.9%
5%
For Leicestershire, we need to expect 15.4% referral rates.
Significantly different from actual data!
Total cancer referrals for East Midlands
over time
Leicester Cancer Genetics Activity Trend - Overall
900
800
No of Patients Seen
700
600
500
400
300
200
100
0
2006/07
2007/08
2008/09
2009/10
2010/11
Year
BME referral rates over time for East
Midlands
Leicester Cancer Genetics Activity Trend - BME
50
45
No of Patients Seen
40
35
30
25
20
15
10
5
0
2006/07
2007/08
2008/09
2009/10
2010/11
Year
Leicester referrals by BME group 2010
Black African
FAP/HNPCC
Black Carribean
Chinese
Colon
Indian
Other Asian
Other mixed
Ovarian
Other White
Pakistani
BRCA1/2
White and Asian
White and Black Carribean
Breast
White British
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
White Irish
Birmingham referrals by BME group
HNPCC/FAP
Black African
Black Carribean
Chinese
All Colon
Indian
Other Asian
Other mixed
Ovarian
Other White
Pakistani
BRCA1/2
White and Asian
White and Black Caribbean
White British
All Breast
White Irish
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
No
Polygenic
Genetic
Environmental risk factors
Local proportion BME
No
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Yes, x3.x5
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Yes, 0.40-0.7
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Not easily found
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
11.1 vs 11.2
Screening/late presentation/less Mendelian diagnoses
Lessons
•
•
•
•
•
•
Cancer burden
Communication with community and NHS
Criteria for referrals
Family history forms
Clinical coding to assess Impact
Bids
Angela Tilley, Teodora Petrova, Manju Netto, Nicole McGrath, Lynn Fox, Helen Kennedy
Ian Robinson, Elspeth McDonald, Will Steward, Clandia Sheik, Vanita Jivanji,
Priyank Jani, Gabby Fuchs, Cyril Chapman and Julian Barwell
Leicester referrals by BME group 2000
FAP
Black African
Colon
Indian
Other Asian Background
Ovaian
White and Black Caribbean
BRCA
White British
Breast
0%
10%
20%
30%
40%
50%
60%
70%
80%
90%
100%
Breast Cancer in the Asian
Population
• Characterized by low incidence rate and early age-of-onset
• Differences may be due to hormonal, reproductive, lifestyle,
and genetic factors
• Sharp pre-menopausal rise, which plateaus after 50yrs
• Incidence of early onset disease (< 40 yrs) doesn’t show
significant geographic variation1
• Therefore high proportion breast cancer cases may be due to
BRCA1 and BRCA2 mutations2
Possible Genetic Differences
India
• Contribution of BRCA1 mutations to familial breast cancer is
similar to reports worldwide, but the contribution of BRCA2
mutations seems rather low among Indian women3
Japan & Philippines
• BRCA2 plays principal role in genetic susceptibility4,5
Pakistan
• Highest rates breast cancer of all Asian countries and some of
the highest rates of ovarian cancer worldwide
• High incidence of breast and ovarian cancer in consanguineous
families ?recessive genes6
Founder mutations
• Population specific founder mutations (BRCA1: 185delAG,
5382insC, BRCA2:6174delT in Jews, BRCA2: 999del5 in the
Icelandic population) are already known
• Several studies have found novel BRCA1 and BRCA2 mutations
in Asian Countries 7,8
• Could there be Asian founder mutations? To date Japan has
largest number of recurrent mutations of any Asian
population2
Cancer Incidence and Survival by Major Ethnic Group
in England, 2002 - 2006
Bowel Cancer
ASIAN POPULATION
As known
All white
Non-white relative
increase
< 65 years
0.54
0.45
0.58
Breast Cancer
ASIAN POPULATION
Rate ratio
>65 years
0.40
0.33
0.43
All ages
0.45
0.37
0.48
Rate ratio
< 65 years
>65 years
All ages
As known
0.68
0.59
0.65
All white
0.52
0.45
0.50
Non-white relative
increase
0.76
0.66
0.73
*Incidence Rates for White Ethnic Group = 1
Teodora Petrova, Manju Netto, Nicole McGrath, Lynn Fox, Helen Kennedy
Ian Robinson, Elspeth McDonald, Will Steward, Clandia Sheik, Vanita Jivanji,
Priyank Jani, Gabby Fuchs, Cyril Chapman and Julian Barwell
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Yes, x3.x5
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Yes, 0.40-0.7
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Not easily found
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
Screening/late presentation/less Mendelian diagnoses
Why are referral rates lower in familial cancer for BME groups?
Polygenic
Genetic
Environmental risk factors
Local proportion BME
Mendelian
Cancer rates in S. Asia for relatives
Generational and age breakdown
Cancer rates in UK
Recognition by patient of FH relevance
Recognition by oncologist/surgeon
of FH relevance in cancer patients
Discussing FH with GP
Referral
Patient not seen
Impact
Comparison with
Birmingham and national
11.1 vs 11.2
Screening/late presentation/less Mendelian diagnoses