Transcript A family history of cancer: How to find it and what to do about it.

A family history of cancer: How
to find it and what to do about it.
Lynn Greenhalgh
Macmillan Cancer and General
Consultant Clinical Geneticist
Cancer
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1 in 3 of us develop
cancer
We all know someone
who has had cancer
Family history of cancer
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Most us of have a
family history of
cancer
Does is matter?
Cancer Genetics
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Cancer that may
have a genetic basis
That is there may be
an inheritable
component to the
cancer
Cancer Genetics
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If we know that
someone is more
likely to develop a
cancer then……
Can we offer that
person options
about how they
want to manage
that risk?
Cancer Genetics
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5-10% of cancers
have a genetic
component
Fewer still have a
single gene cause
How do we identify those at risk
of an inherited cancer?
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We need to ask
people about their
family history of
cancer.
Then we need to
calculate and stratify
their risk.
Golden rules of cancer
genetics
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Is there more cancer
than we would expect
to happen by chance?
Are the cancers the
same or related
cancers?
Are the cancers
occurring at a younger
age than we would
expect?
Are the cancer seen in
different generations?
Risk groups
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Low risk
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Moderate risk
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High risk
Low risk
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Approximately that
of the general
population
No extra screening
May need emotional
support
Moderate risk
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Increased risk above
that of the general
population
Extra screening
recommended
Gene testing not
appropriate (yet)
Avoid environmental
exposures
High risk
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At high risk of
developing cancer
Extra screening
recommended
Gene testing
sometimes available
Risk reducing
surgery sometimes
appropriate
Management of risk groups
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Low risk - Primary Care
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Moderate risk – Secondary Care
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High risk – Clinical Genetics
What sort of cancers can be
inherited?
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Many different sorts.
Breast/Ovarian
cancer
Bowel cancer
Endocrine cancers
Childhood cancers
Many more…
Some examples of families
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Breast cancer family
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Bowel cancer family
Breast Ovarian Cancer Family
Tree
Died young man
Br Ca @late30's
Breast Ca @ 36yrs
Mutation Positive
18
13
9
Lymphoma @61yrs
Recieving Br
Screening
Heart Attack
Heart Attack
Ca Ovary @45yrs
Mutation Positive
Pancreatic Ca@62yrs
No information
Br CA@50's
Double Mastectomy
?cancer
Initial observations
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Cancer happening at a younger age
than we would expect
In different generations
Same or related cancers
More than we would expect
Assessment
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This family meets the high risk criteria
Put DNA forward for BRCA1 and BRCA2
analysis
Results
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BRCA1 mutation
What the results meant for the
proband
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She is now aware that she is at
increased risk of developing
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Another breast cancer
Ovarian cancer
We discuss how she wants to manage
her risk
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Screening
Risk reducing surgery
What the result means for family
members
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Mutation confirmed her affected sister
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Given her access to a chemotherapy trial
Other family members can now have
predicitve tests if they wish
BRCA 1
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High risk breast/ovarian cancer
predisposition gene
80% lifetime risk of developing breast
cancer
40-60% chance of developing ovarian
cancer
30-50% chance of developing a second
primary – breast or ovary
BRCA2
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Recognition that this is a much more
multisystem disorder than BRCA1
40-60% chance of developing breast
cancer
20% ovarian cancer if mutations are
found in OCCR
16% chance of prostate cancer
5% chance of male breast cancer
HNPCC family tree
Ellen
Ward
d. MI
Ca tongue d. 30s
Ca colon/stomach d. 70s
Ca colon d. early 40s
William
Minton
1941/1/16
Ca stomach/colon dx. 67
Glen
Young
Andrew
Campbell
Ca ovary dx. 47
endometriosis
Paula
Ward
Ca ?cervix/uterus dx. 42
Stefan
Himme
Johnson
Ca ovary dx. 42 (2007)
endometriosis & endometrial
atypical hyperplasia (2005)
benigh fibrocystic breast disease (2001)
non-neuropathic
neuropathic bladder
kidney removed due to reflux
d. 32
heart problems
Back to basic principles
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More cancer than we would expect to
happen by chance?
Younger age?
Same or similar cancers?
Different generation?
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Suspicious family…….
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Gene testing
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MLH 2 mutation
What now for the family?
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Predicitve gene testing
Ensuring that at risk individuals are
offered appropriate screening
Discussion of risk reducing surgery
HNPCC – Modified Amsterdam
criteria
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Three individuals with colon cancer
First degree relatives of each other
One with colon cancer under the age of
50 years
Two other HNPCC related cancers
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Large bowel, small bowel
Endometrial, ovarian, stomach,
uro-epithelial………
HNPCC genes – MLH1 and MSH2
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Male
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lifetime colon cancer risk of 80%
Female
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lifetime colon cancer risk of 40-60%
lifetime endometrial cancer risk of 40-60%
lifetime ovarian cancer risk of >10%
HNPCC genes – MSH6
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Colon cancer lifetime risk of > 10%
Endometrial cancer lifetime risk of 7075%
How to identify at risk families
Ask about a family history of
cancer
Who and when….
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Wait for a patient to ask
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Wait for a cancer to occur
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Be proactive…
Be proactive where..
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When a patient presents with a cancer?
When a patient presents with other
problems?
When a patient presents for screening?
Cancer Genetics Wish List
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Equitable opportunity for all patients to
consider their family history of cancer
Guidelines about who has a significant
family history of cancer
Clear patient pathway for those with a
significant family history of cancer
Sefton Cancer Family History
Project
Sarah Reynolds, Commissioning Manager, NHS Sefton
Finding out about family
histories?
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Patient initiated enquires
Known high risk families in general
practice
Symptomatic patients
Other consultations eg hormonal
contraception
Best opportunity to be
proactive……..
THE NEW PATIENT QUESTIONNAIRE
AND INTERVIEW
But should we be asking?
NICE clinical guideline 41 familial breast
cancer
“healthcare professionals…. should not in
most instances actively seek to identify
women with a family history of breast
cancer”
Why make changes ?
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Some practices ask new patients
about cancer FH
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Variation in what happened next
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Lack of clear guidance for primary care
Why make changes? continued
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Breast FH clinics, NICE guidance
Referrals made to Genetics,
Gynaecology, Colorectal surgeons
Need to verify reported histories
Aims for the Project
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Use the new patient questionnaire
/consultation to ask the right cancer
FH questions
Provide primary care with tools to
make a broad assessment- to refer or
not?
Aims for the Project cont…
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Put consistent referral criteria and
simple pathways in place
Provide supportive patient
information
TRAINING PACKAGE
CATH KIGHTLEY
LIAISON GENETIC COUNSELLOR
CONTEXT
(review)
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The Cancer Family History Project-pilot across several practices
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Standarised New Patient Questionnaire, focused questions
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One of three assessment forms used-based on referral guidelines
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Pathway written for equity of service delivery
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May result in an enquiry or referral with patients consent
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Evaluate
TRAINING NEEDS?
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New Knowledge
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Forms and pathways
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Patient anxiety
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How much to say
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Limits of knowledge
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What happens next?
COMPETENCIES
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Already in place -7 in total (Kirk et al)
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A framework for practice-standards for practice
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What do practitioners feel they need- asking first
E.g Genetics of cancer
Managing issues arising
Anxiety
Ethical dilemmas e.g Confidentiality
DELIVERING TRAINING
(For the project)
Overall Aim;
Competent and Confident Practitioners in use of genetics
knowledge and skills for benefit of all patients
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Modular
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Utilising already developed resources-genetics education centreBirmingham
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Face to Face-based around documents developed so far
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Include assessment
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Evaluate and improve package-
DELIVERING TRAINING
(After the project)
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Developing an e-learning package-Whats already in place? We
don’t want to re-invent the wheel
Ideas
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Different learning approaches-e.g videos
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Fitting with own role pressures
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Modular and with ?online assessment tools
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Evaluation and constant development
POSSIBLE CONTENT OF
TRAINING PACKAGE
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Introduction to Genetics
Taking a targeted family history-eg Jewish ancestry
Basic Genetics of breast and/ or ovarian cancers
Genetics of bowel cancer and related cancers
Genetics of other relevant cancers
Use of the forms/ Pathway
Communication re genetics
Issues arising-e.g confidentiality
The future in genetics
There are resources out there –Centre for genetics educationBirmingham
EXPECTED OUTCOMES
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Newly registering patients have opportunity to clarify risk
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Clear pathway across practices
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Standardised approach
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Awareness raising across practices
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Equity of access to training across practices for patient benefit
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Training package transferable to other areas of practice