The field of cytogenetics offers rapid diagnosis to patients with serious haematological disorders and the opportunity to deliver targeted therapies for optimal care.
Every patient deserves a timely diagnosis — particularly for a serious haematological disorder such as leukaemia. The specialist discipline of cytogenetics can report results quickly and efficiently, leading to earlier interventions, targeted treatments and better patient outcomes.
Working with its four NHS partnerships across the UK, medical diagnostics provider SYNLAB is leading the way in this innovative and increasingly critical field of healthcare.
Speed and quality: making a difference to patients
Dr Phillip Monaghan is Head of Service, Consultant Clinical Scientist and Clinical Director of Pathology at SYNLAB’s Christie Pathology Partnership with the NHS in Manchester — a specialist provider offering cytogenetics services to hospitals in Greater Manchester and North West England.
“The rapid diagnostic protocols offered by cytogenetics make a huge difference to patients in terms of the speed and quality of their diagnosis,” he explains.
Cytogenetic testing and targeted therapies
Cytogenetics is a branch of biology that was introduced as a diagnostic tool in the late 1980s. Over the last 30 years, it has expanded to cover a wide range of haematological malignancies. A cytogenetic test involves scientists studying chromosomes from blood or bone marrow samples to detect numerical or structural abnormalities, which reflect underlying molecular genetic changes in the cells’ DNAs.
They may also apply fluorescent DNA labels to look for specific genetic abnormalities (an advanced technique known as ‘fluorescence in situ hybridisation’ or FISH).
For many haematological diseases, cytogenetics is still the gold standard genetic diagnostic test.Dr Nick Telford
Identifying specific genetic abnormalities means that patients can receive targeted therapies — or ‘personalised medicine’ — as the best treatment for their needs, which aids the diagnosis of clinically relevant leukaemia subtypes.
One example at The Christie is Acute Promyelocytic Leukaemia (APL). Clare Hodgson, Principal Clinical Cytogeneticist, says: “APL is a disease often classed as a clinical emergency because of the risk of catastrophic blood clotting, which is why FISH for detection of PML::RARA gene fusion offers a same-day turnaround for urgent clinical management, to ensure the patient receives appropriate treatment with all-trans retinoic acid (ATRA).”
Revolutionising cancer treatment
The cytogenetics team tests around 5,000 blood and bone marrow samples a year, primarily for the diagnosis of haematological malignancy. Specialist tests for solid tumour diagnosis are also performed.
“For many haematological diseases, cytogenetics is still the gold standard genetic diagnostic test,” explains Dr Nick Telford, Consultant Clinical Cytogeneticist at The Christie Pathology Partnership. “The tests allow us to inform the clinician about the severity of the disease; whether the patient is likely to fare well — or not so well — with conventional treatments; and whether they require more specialised and experimental treatment or none at all.”
A culture of innovation
Cytogenetics is just one area where major advancements are being made by SYNLAB across its NHS partnerships, which provide pathology services for a combined population of more than 5.4 million people in the UK.
The business transforms and provides extensive, state-of-the-art, accredited pathology services to hospitals, GP practices, community services and other healthcare organisations, enabling the NHS to realise a range of benefits.
As technology has evolved, cytogenetics and molecular genetics techniques are merging increasingly.
Robert Dunn from Synnovis, another SYNLAB / NHS pathology partnership, says: “Examples include our more recent and emerging tools such as DNA and RNA-based molecular panels, optical genome mapping and whole genome sequencing for structural variant detection.”
Dedicated people delivering a vital service
A service is only as good as its staff. “Our team is extremely experienced and dedicated,” notes Clare Hodgson. After tests are run, an integrated report produced by a specialist integrated haematological malignancy diagnostic service is shared with the haemato-oncology multidisciplinary team so that treatment can start as quickly as possible.
“In the field of cancer diagnostics, it’s a critical service, and we are very proud to be among the lead providers here at The Christie,” says Dr Monaghan.