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 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