About Cancer Genetics Service
The Cheshire and Merseyside Clinical Genetics Service is now a fully accredited Practice Development Unit. This achievement has demonstrated that we are “providing patient focused care based upon best available evidence and which has been evaluated as being effective.” (CDHPP, University of Leeds) We have identified priority areas which includes our patients in service developments.
- Provide an accessible service, which includes: risk assessment, information, and psychological, emotional and physical support of individuals who are at increased risk of developing cancer due to their family history
- Use a multidisciplinary team approach to assess the needs of individual patients, the appropriate level of intervention and care can be suggested
- Provide direct support and counseling to the 500 plus high-risk families already referred and for future referrals
- Provide information, training, and support for healthcare professionals who are involved in providing genetic information to families through primary care or cancer clinics.
There has been a huge growth in referrals of families concerned about the inherited basis of cancers over the last five years. They now constitute over 30% of the departmental workload. In the main this is centered on the common cancers of:
- familial breast cancer
- familial ovarian cancer
- familial bowel cancer
- hereditary non-polyposis colon cancer (HNPCC)
- familial adenomatous polyposis (FAP)
And the rarer, but more specific cancer predisposition syndromes:
- Von Hippel Lindau disease
- Gorlin's syndrome
- Neurofibromatosis type I and type II
- Li Fraumeni syndrome
- Ataxia Telangiectasia and chromosome breakage disorders
- MEN Type l and Type ll
- Cowden Syndrome
Cheshire & Merseyside Clinical Genetics Service - Cancer Genetics
Referral Guidelines for Patients Concerned due to Family History
If there is a local Family History Surveillance Clinic for either breast or bowel cancer, please refer there in the first instance. The following criteria should be used to assess if your patient is at increased risk of cancer and if they are likely to benefit from a referral to the Clinical Genetics Service. This service offers genetic risk assessment and recommendations for clinical surveillance if appropriate. If you feel that your patient would benefit from a genetic counseling referral please discuss referral with a member of the genetics team.
Breast Cancer Referral Guidelines
- 1 first degree relative diagnosed at 40 years or less
- 2 first degree relatives diagnosed at 50 years or less
- 3 first degree relatives at 60 years or less (on the same side of the family)
- 1 first degree male relative with breast cancer at any age
- A first degree relative with bilateral breast cancer
- N.B. breast cancer can also be inherited through the paternal side of a family
Breast/Ovarian Cancer Referral Guidelines
- Minimum: 1 of each cancer in first degree relatives (If only one of each cancer)
- A first degree relative who has both breast and ovarian cancer (breast cancer under the age of 50 years)
- 1 relative with ovarian cancer and 2 relatives with breast cancer at 60 years or less, who are first degree relatives 2 or more ovarian cancers, at least 1 first degree relative affected (on the same side of the family
Colon Cancer Referral Guidelines
- 1 first degree relative diagnosed at age 45 years or less
- 2 first degree relatives (on same side of the family)
- both parents
- 3 relatives, all on the same side of the family, (at least 1 should be a first degree relative)
- Familial Adenomatous Polyposis, Familial Juvenile Polyposis, Peutz-Jegers
- Hereditary Non Polyposis Colorectal Cancer (revised Amsterdam criteria*)
Other Cancer Syndromes Referral Guidelines
- Patient from a family with a known single gene cancer syndrome: von Hippel-Lindau disease, multiple endocrine neoplasia, retinoblastoma
- “Related cancers”: There are some rare cancer syndromes (e.g. Li Fraumeni syndrome and Cowden syndrome) where a variety of different cancers occur within a family. Where there is a high index of suspicion, the possibility of referral should be discussed on an individual basis.
N.B.
- 1st degree relative = parent, child or sibling
- 2nd degree relative = uncle, aunt, niece, nephew or grandparent
- Revised Amsterdam criteria = 2 relatives with colon cancer, 1 <50 years and the 3rd with cancer of the uterus, small bowel, ureter, stomach or ovary <50 years
- Only 5-10% of cancers of the breast, ovary and colon are due to an inherited predisposition and the Family History Surveillance Clinics supported by the Merseyside and Cheshire Cancer Genetics Service assess the risk of cancer based on the reported family history and work with the relevant specialists to recommend further screening strategies where appropriate. The referral criteria suggest who may be at significantly increased risk of an inherited cancer.
Process:
On receipt of referral
- Patient is sent a letter confirming their referral and asking them to make an appointment with a Genetic. Counselor to discuss their family history
- Further clarification and confirmation of relevant diagnosis. This may take several weeks
- Consultation with Clinical Geneticist and/or Genetic Counsellor
- GP, referring doctor and patient all receive information on risk grouping and advised screening where appropriate.
Low Risk
We aim to reassure this group that on the information given, their risk is not raised to a significant degree above that of the general population. Extra surveillance is not suggested. It is clearly stated that individuals in this group still have the same risk (or perhaps slightly higher) of cancer as any other individual of the same age in the general population. They should continue the standard health awareness and screening as the general population.
Moderate Risk
Ongoing management between primary care and appropriate specialist (for example the local family history screening clinic) is recommended. We will usually suggest an appropriate referral route or discuss options for the GP and patient to consider.
High Risk
In addition to suggesting the involvement of other specialist surveillance, this group will be offered a genetic clinic appointment, and if requested, genetic testing can be pursued in some families.
Genetic Clinics offer:
Time to discuss at length where appropriate
- Follow up of other family members at high risk
- Storage of DNA from affected individuals
- Organization of molecular genetic testing where appropriate
- Advantages and disadvantages of gene testing options
- Referral into screening programs where available
- Discussion of risk reducing surgery where appropriate
Referrals for high risk families should be made to:
Dr Lynn Greenhalgh
Clinical Genetics Service
Referrals, Alder Hey Hospital, Eaton Road, Liverpool, L12 2AP
Family History Breast Screening Clinics
The Cancer Genetics Service of the Cheshire and Merseyside Clinical Genetics Services. It is hoped to continue to support and develop a number of breast cancer family history screening clinics across the zone which will act as the first line contact for GP's wishing to refer women.
The current Family History Breast Screening Clinics are:
Sue Holcolme & Hilary Downing – Breast Care Nurse Specialists
Family History Breast Screening Clinic, Royal Liverpool University Hospital, Prescot Road, Liverpool, L7 8XP
Janet Hicks – Breast Care Nurse Specialist
Family History Breast Screening Clinic, Southport and Formby District General Hospital, Town Lane, Southport, PR8 6PN
Breast Care Nurse Specialist
Family History Breast Screening Clinic, University Hospitals Aintree NHS Trust, Walton OPD, WALTON, Rice Lane, Liverpool L9
Chris Bebb & Sue McNicholls – Breast Care Nurse Specialists
Whiston Breast Services, Whiston Hospital, Prescot, Merseyside, L35 5DR
Jackie Phillips & Emma Woodhall - Breast Care Nurse Specialists
Breast Screening Family History Clinic, Countess of Chester hospital, Liverpool Road, Chester, CH2 1UL
Janet Hicks – Breast Care Nurse Specialist
Ormskirk Hospital, Wigan Road, Ormskirk, Lancashire, L39 2AZ
Breast Care Nurse Specialist
Breast Screening Unit, Warrington Hospital, Lovely Lane Warrington, WA5 1QG
Ms M Callaghan
Consultant, Breast Surgeon, The Elms, Clatterbridge Hospital
