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Let's talk genomics!

Genomics Conversation week takes place annually with the aim of sparking conversations about genomics and increasing healthcare professionals’ familiarity with the topic.

Genomics is the study of genes and how alterations can lead to changes in how proteins function or are produced by cells.

The use of genomics in healthcare is gaining rapid momentum and is transforming healthcare particularly in cancer and for those who have, or are likely to inherit a rare disease. It can:

  • enable a quicker diagnosis for patients with a rare disease, rather than years of uncertainty
  • increase the number of people surviving cancer each year because of more accurate and early diagnosis and more effective use of therapies
  • match people to the most effective medications and interventions, reducing the likelihood of an adverse drug reaction

It has never been more important for healthcare professionals to be able to talk confidently about genomics and signpost patients to relevant information and services.

CUH is at the forefront of genomic medicine and research - click to find out how!

We are host organisation to East Genomics, this includes:

  • East Genomic Laboratory Hub (East GLH), which provides and coordinates genomic testing for 29 NHS trusts within East of England and East Midlands
  • East Genomic Medicine Service Alliance (East GMSA) which is bringing equity of access to genomic testing for the first time.
Lorraine Szeremeta
Lorraine Szeremeta, Chief Nurse, CUH

Lorraine Szeremeta, Chief Nurse, Cambridge University Hospitals NHS Foundation Trust

“Genomics continues to play an important part of healthcare. With an increasing number of nationally approved tests being made available to our patients we can help transform care and outcomes for many patients.

“Nurses and midwives play a vital role in this transformation and I would like to encourage all staff to keep learning and talking about genomics with each other.”

Victoria Carr, who was appointed as Nursing Lead for the East GMSA in January 2022 said:

"At CUH, and across the region, many nurses and midwives are already engaged with genomics. However, many don’t recognise the work they are doing as ‘genomics’.

"At the GMSA we are linking in with a lead nurse and midwife across all 29 NHS Trusts in our region. We are focusing on specific conditions. Currently these are monogenic diabetes, lynch syndrome and lung cancer and our next area of focus is familial epilepsy. We are promoting training opportunities and creating a network where resources and skills can be shared to improve awareness and uptake of genomic testing."

Paul Selby, Pharmacy Lead for East GMSA, is working to raise the awareness of genomics across pharmacists across the region.

Genomics plays an important role within pharmacy by helping pharmacists select the best medicines based on someone’s DNA rather than just seeing how they respond to a standard drug or dose. It enables pharmacists to choose medicines that work better for people and also avoid those that might cause them harm.

The use of genomics in pharmacy

The use of genomics in pharmacy

Link: https://youtu.be/3IH0bHf7znk

Many areas of medicine have seen genomics transform patient care. Two areas that we are raising awareness of at the moment are:

Monogenic Diabetes

Genomic testing can help identify this rare form of diabetes caused by a single gene change.

Our regional Genetic Diabetes Nurse highlights how genomic testing can help diagnose a rare form of diabetes. When the rare form - Monogenic Diabetes - is diagnosed, it can completely change the way a patient's condition is treated.

By confirming if a patient’s diabetes is actually ‘monogenic’, you can make significant treatment changes so patients can get the best treatment. They may even be able to take tablets instead of insulin which can be life changing for them.

Anita Murphy, East GMSA Regional Genetic Diabetes Nurse

You can read more about this condition here

Lynch Syndrome

Lynch syndrome is an inherited condition that increases the risk of certain types of cancer including colorectal and endometrial cancer. Confirming if a patient has this condition can change patient outcomes.

Knowing whether patients have Lynch syndrome can help clinicians offer appropriate screening and offer the most effective treatment quickly which can save lives.

Dr Elizabeth Smyth, Consultant in Gastrointestinal Oncology and Clinical Lead for Cancer at East Genomics

Education and training

There is a great range of courses available - from webinars to postgraduate study - to help inform and develop healthcare professionals no matter what level of knowledge they are starting from.

Clinical Geneticists and Genetic Counsellors at CUH have produced concise e-learning packages for oncologists and cardiologists to help clinicians confidently know how and when to order genetic testing. The short 15 minute courses also helps clinicians know how to read a genetics report and what to advise relatives. More information on these can be found here.

You can find out more about East Genomics here, as well as the local and national transformation projects here.

Information on courses and resources on genomics can be found here:

Education and careers | East Genomics