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

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Cancer

• 1 in 3 of us develop cancer
• We all know someone who has had cancer

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Family history of cancer

• Most us of have a family history of cancer
• Does is matter?

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Cancer Genetics

• Cancer that may have a genetic basis
• That is there may be an inheritable component to
  the cancer

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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?

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Cancer Genetics

• 5-10 of cancers have a genetic component
• Fewer still have a single gene cause

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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.

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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?

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Risk groups

• Low risk
• Moderate risk
• High risk

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Low risk

• Approximately that of the general population
• No extra screening
• May need emotional support

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Moderate risk

• Increased risk above that of the general
  population
• Extra screening recommended
• Gene testing not appropriate (yet)
• Avoid environmental exposures

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High risk

• At high risk of developing cancer
• Extra screening recommended
• Gene testing sometimes available
• Risk reducing surgery sometimes appropriate

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Management of risk groups

• Low risk - Primary Care
• Moderate risk Secondary Care
• High risk Clinical Genetics

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What sort of cancers can be inherited?

• Many different sorts.
• Breast/Ovarian cancer
• Bowel cancer
• Endocrine cancers
• Childhood cancers
• Many more

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Some examples of families

• Breast cancer family
• Bowel cancer family

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Breast Ovarian Cancer Family Tree
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Initial observations

• Cancer happening at a younger age than we would
  expect
• In different generations
• Same or related cancers
• More than we would expect

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Assessment

• This family meets the high risk criteria
• Put DNA forward for BRCA1 and BRCA2 analysis

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Results

• BRCA1 mutation

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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

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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

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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

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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

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HNPCC family tree
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Back to basic principles

• More cancer than we would expect to happen by
  chance?
• Younger age?
• Same or similar cancers?
• Different generation?
• Suspicious family.

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Gene testing

• MLH 2 mutation

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What now for the family?

• Predicitve gene testing
• Ensuring that at risk individuals are offered
  appropriate screening
• Discussion of risk reducing surgery

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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

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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 gt10

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HNPCC genes MSH6

• Colon cancer lifetime risk of gt 10
• Endometrial cancer lifetime risk of 70-75

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How to identify at risk families
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Ask about a family history of cancer
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Who and when.

• Wait for a patient to ask
• Wait for a cancer to occur
• Be proactive

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Be proactive where..

• When a patient presents with a cancer?
• When a patient presents with other problems?
• When a patient presents for screening?

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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

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Sefton Cancer Family History Project
Sarah Reynolds, Commissioning Manager, NHS
Sefton
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• Finding out about family
• histories?
• Patient initiated enquires
• Known high risk families in general practice
• Symptomatic patients
• Other consultations eg hormonal contraception

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• Best opportunity to be
• proactive..
• THE NEW PATIENT QUESTIONNAIRE
• AND INTERVIEW

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• 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

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Why make changes ?

• Some practices ask new patients about
  cancer FH
• Variation in what happened next
• Lack of clear guidance for primary care

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Why make changes? continued

• Breast FH clinics, NICE guidance
• Referrals made to Genetics, Gynaecology,
  Colorectal surgeons
• Need to verify reported histories

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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?

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Aims for the Project cont

• Put consistent referral criteria and simple
  pathways in place
• Provide supportive patient information

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TRAINING PACKAGE

• CATH KIGHTLEY
• LIAISON GENETIC COUNSELLOR

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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

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TRAINING NEEDS?

• New Knowledge
• Forms and pathways
• Patient anxiety
• How much to say
• Limits of knowledge
• What happens next?

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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

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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-

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DELIVERING TRAINING(After the project)

• Developing an e-learning package-Whats already in
  place? We dont 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

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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

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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