Harnessing the power of genetic testing to improve patient care

Our hospital Trust is playing a vital role in the delivery of genomic testing across the East to tailor treatments for patients according to their genetic makeup.

We are a key partner in the East Genomic Medicine Service Alliance (GMSA), which has been established to ensure eligible patients can benefit from appropriate genomic tests when required.

Genomics is the study of genetic information, which can help diagnose diseases earlier and more accurately. This can often reduce the need for some medical procedures and enables personalised treatments for some patients.

Emmanuel Ncube, Strategy Director, said one of the main aims of the GMSA was to make genomic testing more mainstream.

He said: “In areas such as cancer, genomics can lead to earlier diagnosis and identify patients who would benefit from monitoring and more targeted drugs that can lead to better outcomes. Through our local transformation projects, and our support of national projects across cancer and rare diseases, we are building the evidence base to show the benefits for clinicians and patients of embracing genomic medicine.”

The regional genomics alliance works to ensure equal access to the nationally commissioned genomic tests set out in the National Genomics Test Directory, no matter where people live or which hospital they use.

Results from a genomic test can provide a specific diagnosis, for example a rare disease which is little known to clinicians, or the particular type of cancer that a patient has. Results may help provide accurate knowledge of how the condition might develop in the future and more targeted, effective treatments with fewer side-effects.

Lynch Syndrome

Dr Mohamed Ahmed, Consultant Histopathologist at NNUH and pathology lead for the East GMSA Genomic Pathology Accelerator Programme (GPAP), said an audit of cases found that 94% of patients with colorectal cancer at NNUH were tested for Lynch Syndrome, which is an inherited genetic condition associated with an increased risk of certain cancers.

“Early detection has a huge impact on disease behaviour. If a disease is caught early this greatly improves the prognosis for the patient and may have significant positive implications on health care resources,” he said.

Dr Hilary Turnbull, Consultant Gynaecological Oncologist, added that all endometrial cancer patients have been tested for mismatch repair gene (MMR) abnormalities for the last year at NNUH.

“If a patient is diagnosed with Lynch Syndrome after blood DNA testing, they are eligible for regular colonoscopy assessments to try to identify polyps, pre-cancers or early cancers of the bowel. A patient’s family members will also then be eligible for genetic assessment, to help identify those at risk of associated cancers. If a woman is found to have Lynch Syndrome, she is eligible for a hysterectomy to reduce the risk.”

Monogenic Diabetes

Dr Vidya Srinivas, Consultant in Diabetes and Endocrinology at NNUH, is leading on a Monogenic Diabetes pathway for East GMSA to help raise awareness across the region.

“The most common types of diabetes are type 1 and type 2. However, we now understand that the causes of diabetes are far more complex. Monogenic diabetes is a rare group of genetic conditions, where there is a genetic predisposition to diabetes. About 1-2% of all patients with diabetes will be eligible to have testing for this, which is still a significant number of people, considering how common diabetes is in the population.

“Getting the correct diagnosis can be life changing. We have had some patients, previously diagnosed with type 1 diabetes and treated with insulin all their life, for whom a genetic test has meant that we can move them off insulin and onto a course of tablets. More awareness of monogenic diabetes and genomic testing can transform the lives of many patients.”

Familial Hypercholesterolaemia

Familial Hypercholesterolaemia (FH) is a genetic condition causing dangerously high levels of cholesterol in the blood, so early detection is key.

Shelina Rajan, FH Clinical Nurse Specialist at NNUH is leading a project across Norfolk and Waveney using healthcare records and data to identify patients who may be at higher risk of the potentially life-threatening condition.

Shelina explains: “One in 250 people are thought to be affected, but only 10-15% are actually aware that they have FH. By looking through existing health records and data we hope to identify people at higher risk of having FH who we can then offer genetic testing to with a simple blood test. If found to have the condition, we can start them on treatment and management, and offer further testing to identify affected relatives”.

There are seven genomic alliances across the country and the East GMSA covers 29 NHS organisations across the East of England and East Midlands. NNUH is one of four hospital Trusts that have direct responsibility for delivering the service alongside Cambridge University Hospitals NHS Foundation Trust, Nottingham University Hospitals NHS Trust and University Hospitals of Leicester NHS Trust.

The alliance is an evolution of the 100,000 Genomes Project and is already helping patients with certain cancers and diseases.