Rhian White 1

The All Wales Medical Genomics Services has a dedicated team of staff delivering comprehensive cancer genetic services which includes laboratory diagnostic and research services to deliver a growing range of genetic tests to inform and support cancer diagnosis, monitoring and treatment for patients. AWMGS also provides specialist genetic counselling services for people with suspected inherited ‘cancer genes.
The laboratory cancer services team are managed by Consultant Clinical Scientist Rhian White, FRCPath. The team works with oncologists, haematologists, histopathologists and researchers to ensure that the services deliver high quality testing within a timeframe to enable treatment decisions to be made. 
Welsh Government (WG) and the Welsh Health Specialised Services Committee (WHSSC) agreed in April 2019 to increase funding for cancer services in Wales to facilitate expansion of the genetic tests available for solid tumour and haematological malignancies assisting to continuously improve patient care.

 


The Cancer Section of the laboratory consists of the following teams:
-  Familial Cancer Services
-  Solid Tumour Services
-  Haematological Cancer Services

 

Familial Cancer Service

 

fm1The Familial Cancer team work closely with the Clinical Genetics Cancer Services in order to provide a range of germline genetic tests for inheritable genes linked to the development of cancers. The Familial Cancer Service provides a wide repertoire of specialised services for patients with the following cancers: 
-  Breast cancer
-  Ovarian cancer
-  Bowel cancer
-  Neurofibromatosis type 1
-  Tuberous Sclerosis
-  Li Fraumeni syndrome.

These tests are for germline changes (changes to the DNA patients were born with) and are therefore carried out on blood samples.

 


 
Solid Tumour Service
STC1
The Solid Tumour team identifies key somatic (not inherited) changes in genes found in patient’s solid tumours that have strong evidence for use in precision medicine, as well as providing supportive diagnostic and prognostic information. These somatic tests can be carried out on tissue biopsies from the solid tumour, skin samples (for melanoma) or on blood via the extraction of circulating tumour DNA.
Working with pathologists, oncologists and surgeons the team tests tumours using a range of techniques including fluorescence in situ hybridisation (FISH) and a multi-gene panel to provide molecular analysis on a range of genetic markers through one test.
The Solid Tumour Service currently provides testing for: 
-  Colorectal cancer
-  Non Small Cell Lung cancer
-  Gastrointestinal cancer
-  Melanoma
-  Glioma
-  Sarcoma
-  Breast cancer
 
These tests are designed to look for somatic changes within the tumour and are therefore carried out on tumour samples. 
The Solid Tumour Service also offers genetic testing on circulating tumour DNA (ctDNA) which is found in the bloodstream. ctDNA is DNA that has originated from cancerous cells. ctDNA services currently include testing for mutations in lung and colorectal cancer using droplet-digital PCR (ddPCR) where no biopsy is available.
The laboratory invests in continuous improvement aiming to develop a wider range of services encompassing an expanding range of genetic markers , leading to an increase in patient numbers eligible to access genetic tests in Wales. Enhancing the service will enable more people to access precision medicine and clinical trial options that target the genetic make-up of their individual tumour, offering a wider selection of treatment options.
The Solid Tumour Service also works closely with research partners to provide genetic testing for a number of clinical trials.

 
Haematological Cancer Service

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The Haematological Cancer team identifies key somatic (not inherited) changes in genes found in patient’s blood in order to support the diagnosis, prognosis and treatment of people with a haematological malignancy (leukaemia and lymphoma). Working with Haematologists to meet the needs of the 
patients the Haematological Cancer Service provides testing for:
-  Chronic Myeloid Leukaemia
-  Acute Myeloid Leukaemia
-  Acute Lymphoblastic Leukaemia
-  Chronic Lymphoblastic Leukaemia
-  Myelodysplastic Syndromes
-  Myeloproliferative Neoplasms
-  Myeloma
-  Lymphoma
-  Bone Marrow Transplant Monitoring
These tests are for somatic changes and are carried out on blood, bone marrow or lymph node samples. Testing is carried out both at diagnosis and during the course of the patient’s disease to monitor response to treatment using a range of techniques, including Next Generation Sequencing. This testing supports clinician’s to ensure the patient is on the correct treatment pathway in that it is clinically effective and minimises patient harm.

 
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