Newcastle Laboratories

Clinical Genetics

Clinical Genetics

The Northern Genetics Service provides a clinical diagnostic and genetic counseling service across the North East and Cumbria We provide a specialist service for individuals and their families undergoing investigation for genetic conditions. This includes providing diagnosis, genetic counselling, genetic testing and ongoing support and management.

Clinics are held in Newcastle, Carlisle, Sunderland and various locations around County Durham, Teesside and part of North Yorkshire.

What we do:

  • Investigation and diagnosis of congenital abnormality
  • Investigation and diagnosis of abnormalities of growth or development in childhood
  • Prenatal diagnosis for a known familial genetic disorder
  • Diagnosis and counselling on diagnosis of fetal abnormality either on genetic testing or ultrasound
  • Risk assessment in individuals with a strong family history of cancer
  • Diagnosis of a possible genetic disease, including eye, renal, cardiac and neurological disorders
  • Concern regarding personal of family history of a genetic disease
  • Offer testing and support to family members for carrier status for single gene or chromosomal  disorders including presymptomatic / predictive gene testing

Clinical Team


Dr Michael Wright                                                      Consultant Clinical Geneticist

Dr Miranda Penman Splitt                                        Consultant Clinical Geneticist

Dr Paul Brennan                                                         Consultant Clinical Geneticist

Dr Tara Montgomery                                                 Consultant Clinical Geneticist

Dr Marta Bertoli                                                          Consultant Clinical Geneticist

Dr Richard Martin                                                       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

Larissa Veres                                                                  Genetic Counsellor

Making a Referral

Patient 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 :01912418600


Or to


Northern Genetics Service , (Teesside Genetics Team) , James Cook University Hospital, Marton Road, Middlesbrough , TS4 3BW

Tel :01642282673


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 .


  • Genetic reference number if previously 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 section, for the additional information on referrals.

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.

Cancer Family History

Many Healthcare professionals will receive queries from patients concerned about whether cancer runs in their family.  Because cancer is common, with a 1 in 3 lifetime risk, many of us will have a history of cancer within the family, but familial cancers only account for approximately 5%-10% of all cancers.  A Healthcare Proffesional (HCP) needs to feel confident in reassuring the vast majority of patients that they are at general population risk (low risk) whilst 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.


We will assess:-

  • How likely it is that a cancer is genetic
  • What an individual’s risk is
  • If genetic testing is possible or appropriate,
  • How best to deal with the increased risk. This may referral for screening or consideration of risk reducing surgery.

Cancer Family History Referral

Referrals can be made by letter to-

Northern Genetics Service, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ

Tel :01912418600


Or to


MacMillan Cancer Family History Service , James Cook University Hospital, Marton Road , Middlesbrough , TS4 3BW

Tel :01642282673


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

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

All referrals to the Genetics Department must include a completed Family History Questionnaire. This allows the Genetics Department to verify all cancer diagnoses with the Cancer Registry and allows an accurate assessment of a patient’s risk.


Cancer Family History Questionnaire

When to Suspect Familial Cancer

There are some clues in a patient’s history which may suggest the possibility of a familial cancer.

  • The same cancer or related cancers 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.

Family History Questionnaire (link)


Cardiac Referrals

Cardiac Referrals

Information on cardiac referrals to be added soon

Clinic Locations

Information on Clinic Locations to be added soon