Newcastle Laboratories

Clinical Services

Clinical Genetics (Northern Genetics Service)

The Northern Genetics Service provides clinical diagnostic and genetic counselling across the North East and Cumbria.

Clinics are held in Newcastle, Carlisle, Sunderland and various locations around County Durham, Teesside and part of North Yorkshire, in addition to telephone and telemedicine appointments

What we do:

Most of the medical conditions we see are rare inherited conditions. We seek to explain why an inherited condition has happened, whether it could happen again and what can be done about it. We also provide expert support to help families come to terms with a new diagnosis. These are some of our skills:

  • We investigate and diagnose congenital abnormality
  • We investigate and diagnose of abnormalities of growth or development in childhood
  • We coordinate prenatal diagnosis for a genetic conditions known to run in the family
  • We help to explain fetal abnormality, either on genetic testing or ultrasound scans
  • We undertake risk assessment in people with a strong family history of cancer
  • We diagnose and advise of the management of many different genetic conditions, including conditions that affect the brain, eye, lung, heart, blood vessels, kidney, skeleton and joints (and many more) kidney
  • We help people to understand their family history of a genetic condition and help them to clarify their own risks
  • We offer testing for carrier status of single gene or chromosomal conditions, including pre-symptomatic / predictive gene testing and provide support for people and families going through this process.

 

Clinical Team

Consultants

Dr Marta Bertoli – Consultant Clinical Geneticist

Dr Paul Brennan – Consultant Clinical Geneticist (Clinical Lead)

Dr Richard Martin – Consultant Clinical Geneticist

Dr Tara Montgomery – Consultant Clinical Geneticist

Dr Ruth Richardson – Consultant Clinical Geneticist

Dr Brian Wilson – Consultant Clinical Geneticist

Dr Michael Wright – Consultant Clinical Geneticist

 

Genetic Counsellors

Oonagh Claber – Lead Genetic Counsellor

Lindsay O’Dair – Lead Genetic Counsellor

Sharon McDonnell – Principal Genetic Counsellor

Lorraine Cowley – Principal Genetic Counsellor

Susan Fairgrieve – Genetic Counsellor

Stella Robertson – Genetic Counsellor

Helen Bethell – Genetic Counsellor

Hayley Walsh – Genetic Counsellor

 

Making a Referral

Clinical referrals are accepted from GP/Specialist Clinicians by letter to the following addresses:

Northern Genetics Service

International Centre for Life

Central Parkway

Newcastle upon Tyne

NE1 3BZ

Tel: 0191 2418600

 

Or to

 

Northern Genetics Service , (Teesside Genetics Unit)

James Cook University Hospital

Marton Road

Middlesbrough

TS4 3BW

Tel: 0164 2282673

Advice and Guidance available through ereferral pathway

What to Include in a Referral

  • Name and title
  • NHS number
  • Date of birth
  • Full address and postcode
  • Telephone details including a mobile phone number (essential as we may need to contact patients prior to an appointment
  • GP details
  • Names and dates of birth of relatives who have already been seen in a genetic service; If known please specify which genetic service .

 

  • Our reference number (it starts with ‘GC’), if the patient has previously been seen by the Northern Genetics service
  • In paediatric referrals please include current social worker details for all Looked after Children
  • Please state if an interpreter is needed and specify the language required

 

When referring a patient with a significant personal and / or family history of cancer, or cardiac conditions please refer to the relevant section below for additional information.

 

What Happens After a Referral

If the referral is accepted, your patient will either receive a direct or partial booking appointment. If the referral is rejected, the referrer will be informed of this triage decision

When referring a patient with a significant personal and / or family history of cancer, or cardiac conditions please refer to the section, for the additional information on referrals.

 

Patients with a family history of cancer
Cancer is a common condition, with an average 1 in 3 lifetime risk in the UK. Many of us will have a history of cancer within our family, but most of the time this is quite normal. However, in some families there is an inherited predisposition to cancer which causing a more significant family history. Familial cancers only account for approximately 5%-10% of all cancers.

Healthcare professionals need to feel confident in reassuring the vast majority of patients that they are at general population risk (‘low risk’) while being able to identify those who are at possible increased risk who would benefit from a referral to Genetics.

This service undertakes risk assessment for individuals and their families who are either affected with cancer themselves and/or have a family history of cancer. During this process, we will assess:

 

  • The family history, using a standard family history questionnaire, after which we try to confirm the reported diagnoses as far as possible.
  • How likely it is that the family history is the result of an inherited predisposition
  • What an individual family member’s lifetime cancer risk is
  • Whether genetic testing is possible or appropriate,
  • How best to deal with the increased risk. We may suggest referral for screening, use of risk-reducing medication or risk reducing surgery.

 

When to Suspect Familial Cancer

There are some clues in a patient’s history which increase the likelihood of a familial cancer, for example:

  • The same cancer, or related cancers (e.g. breast and ovary), in two or more close relatives on the same side of the family.
  • Cancer diagnosed in relatives at a young age.
  • Multiple primary cancers occurring in the same person.
  • Bilateral or multiple rare cancers.
  • Known associated groupings of cancers e.g. breast & ovarian, bowel & endometrium, breast & sarcoma.
  • An autosomal dominant pattern of inheritance.

 

Cancer Family History Referral

Referrals can be made by letter to-

MacMillan Cancer Family History Service

James Cook University Hospital

Marton Road

Middlesbrough

TS4 3BW

Tel: 0164 2282673

 

Or

 

Northern Genetics Service

International Centre for Life

Central Parkway

Newcastle upon Tyne

NE1 3BZ

Tel: 0191 2418600

 

If possible, referrals should be accompanied by a completed family history questionnaire.

All referrals from across the region are initially managed by the MacMillan Cancer Family History Service based in James Cook University Hospital, Middlesbrough.

 

Cancer Family History Questionnaire

 

Patients with a family history of a cardiac condition

Some cardiac conditions – like coronary artery disease are common and are rarely the result of an inherited condition. Others – like hypertrophic cardiomyopathy – are usually the result of an inherited gene fault.

All patients with the following conditions should be referred to the North of England Cardiac Family History Service (contact details below) for nurse-led triage:

  • Hypertrophic cardiomyopathy or unexplained left ventricular hypertrophy.
  • Unexplained dilated cardiomyopathy, especially if there is a family history of cardiomyopathy or sudden unexplained death / cardiac arrest.
  • Unexplained cardiac arrest under the age of 50.
  • Those with a close relative (sib, parent, child) who has died suddenly without an obvious cause below the age of 50.

All patients with the following conditions should be referred to the Northern Genetics Service:

  • Unexplained thoracic aortic aneurysm / dissection under the age of 50 (or those with a family history of the same).
  • Possible Marfan syndrome.
  • Bicuspid aortic valve with a family history of the same or thoracic aortic aneurysm.
  • Possible vascular Ehlers Danlos syndrome or unexplained non-thoracic arterial aneurysm/dissection.
  • People with hypertrophic or dilated cardiomyopathy, long QT syndrome, Brugada syndrome or catecholaminergic polymorphic VT in whom a pathogenic variant, likely pathogenic variant or variant of uncertain significance has been identified through molecular testing.

Family History Questionnaire (link)

 

North of England Cardiac Family History Service referral

Tyneside and Northumberland:

Julie Goodfellow, BHF Cardiac Genetics Nurse

Freeman Hospital

Freeman Road

Newcastle upon Tyne

NE7 7DN

 

Wearside, South Tyneside and northern County Durham:

Lisa Cowell, BHF Cardiac Genetics Nurse

Sunderland Royal Hospital

Kyall Road

Sunderland

SR4 7TP

 

Teesside, Weardale, southern County Durham, North Yorkshire:

Anglea Hammond, BHF Cardiac Genetics Nurse

James Cook University Hospital

Marton Road

Middlesbrough

TS4 3BW

 

Patients with a strong family of coronary artery disease:

Referral should initially be to a lipidologist to consider the possibility of an inherited cholesterol problem – most commonly, familial hypercholesterolaemia.

Clinic Locations

Information on Clinic Locations to be added soon