a family history of cancer: how to find it and what to do about it
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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. 1 in 3 of us develop cancer We all know someone who has had cancer. Family history of cancer. Most us of have a family history of cancer - PowerPoint PPT PresentationTRANSCRIPT
A family history of cancer: How to find it and what to do about it.
Lynn GreenhalghMacmillan Cancer and
General Consultant Clinical Geneticist
Cancer
1 in 3 of us develop cancer
We all know someone who has had cancer
Family history of cancer
Most us of have a family history of cancer
Does is matter?
Cancer Genetics
Cancer that may have a genetic basis
That is there may be an inheritable component to the cancer
Cancer Genetics 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
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?
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 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
Low risk
Moderate risk
High risk
Low risk Approximately that
of the general population
No extra screening
May need emotional support
Moderate risk Increased risk
above that of the general population
Extra screening recommended
Gene testing not appropriate (yet)
Avoid environmental exposures
High risk At high risk of
developing cancer Extra screening
recommended Gene testing
sometimes available
Risk reducing surgery sometimes appropriate
Management of risk groups
Low risk - Primary Care
Moderate risk – Secondary Care
High risk – Clinical Genetics
What sort of cancers can be inherited?
Many different sorts.
Breast/Ovarian cancer
Bowel cancer Endocrine cancers Childhood cancers Many more…
Some examples of families
Breast cancer family
Bowel cancer family
Breast Ovarian Cancer Family Tree
Ca Ovary @45yrsMutation Positive
Lymphoma @61yrsBr Ca @late30's
Recieving Br Screening
18 13 9
Died young man Pancreatic Ca@62yrs
Heart Attack Heart Attack Br CA@50's
Double Mastectomy?cancer
Breast Ca @ 36yrsMutation Positive
No information
Initial observations
Cancer happening at a younger age than we would expect
In different generations Same or related cancers More than we would expect
Assessment
This family meets the high risk criteria
Put DNA forward for BRCA1 and BRCA2 analysis
Results
BRCA1 mutation
What the results meant for the proband
She is now aware that she is at increased risk of developing Another breast cancer Ovarian cancer
We discuss how she wants to manage her risk Screening Risk reducing surgery
What the result means for family members
Mutation confirmed her affected sister Given her access to a chemotherapy
trial
Other family members can now have predicitve tests if they wish
BRCA 1 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
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
Ca ovary dx. 47endometriosis
GlenYoung
AndrewCampbell
Ca stomach/colon dx. 67 Ca ?cervix/uterus dx. 42
Ca ovary dx. 42 (2007)endometriosis & endometrial atypical hyperplasia (2005)
benigh fibrocystic breast disease (2001)
PaulaWard
StefanHimme
WilliamMinton
1941/1/16
Johnson
non-neuropathicneuropathic bladder
kidney removed due to reflux
d. MI Ca tongue d. 30s Ca colon/stomach d. 70s
EllenWard
Ca colon d. early 40s
d. 32 heart problems
Back to basic principles
More cancer than we would expect to happen by chance?
Younger age? Same or similar cancers? Different generation?
Suspicious family…….
Gene testing
MLH 2 mutation
What now for the family?
Predicitve gene testing
Ensuring that at risk individuals are offered appropriate screening
Discussion of risk reducing surgery
HNPCC – Modified Amsterdam criteria
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
Large bowel, small bowel Endometrial, ovarian, stomach, uro-epithelial………
HNPCC genes – MLH1 and MSH2
Male lifetime colon cancer risk of 80%
Female lifetime colon cancer risk of 40-60% lifetime endometrial cancer risk of 40-
60% lifetime ovarian cancer risk of >10%
HNPCC genes – MSH6
Colon cancer lifetime risk of > 10%
Endometrial cancer lifetime risk of 70-75%
How to identify at risk families
Ask about a family history of cancer
Who and when….
Wait for a patient to ask
Wait for a cancer to occur
Be proactive…
Be proactive where..
When a patient presents with a cancer?
When a patient presents with other problems?
When a patient presents for screening?
Cancer Genetics Wish List
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?
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 ? Some practices ask new
patients about cancer FH
Variation in what happened next
Lack of clear guidance for primary care
Why make changes? continued
Breast FH clinics, NICE guidance
Referrals made to Genetics, Gynaecology, Colorectal surgeons
Need to verify reported histories
Aims for the Project 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…
Put consistent referral criteria and simple pathways in place
Provide supportive patient information
TRAINING PACKAGE
CATH KIGHTLEYLIAISON GENETIC COUNSELLOR
CONTEXT (review)
The Cancer Family History Project-pilot across several practices
Standarised New Patient Questionnaire, focused questions
One of three assessment forms used-based on referral guidelines
Pathway written for equity of service delivery
May result in an enquiry or referral with patients consent
Evaluate
TRAINING NEEDS? New Knowledge
Forms and pathways Patient anxiety
How much to say
Limits of knowledge
What happens next?
COMPETENCIES
Already in place -7 in total (Kirk et al)
A framework for practice-standards for practice
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
Modular
Utilising already developed resources-genetics education centre-Birmingham
Face to Face-based around documents developed so far
Include assessment
Evaluate and improve package-
DELIVERING TRAINING(After the project) Developing an e-learning package-Whats already in
place? We don’t want to re-invent the wheel
Ideas
Different learning approaches-e.g videos
Fitting with own role pressures
Modular and with ?online assessment tools
Evaluation and constant development
POSSIBLE CONTENT OF TRAINING PACKAGE
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 education-Birmingham
EXPECTED OUTCOMES
Newly registering patients have opportunity to clarify risk
Clear pathway across practices
Standardised approach
Awareness raising across practices
Equity of access to training across practices for patient benefit
Training package transferable to other areas of practice