Genomics and its application via clinical assessment and testing are vital to achieving an effective diagnosis for patients, appropriate management, and support.  

Being able to identify clinical indications and having an initial consultation and discovering the patient’s family history is key to ensuring informed patient choice in relation to genomic testing.

You may offer a test or suggest a referral for testing because:

  • You believe that your patient may have a health condition caused by a change in one or more of their genes
  • You believe that your patient may be genetically predisposed to a specific condition due to their background e.g., there is a greater risk of breast cancer in the Ashkenazi Jewish community
  • There has been a recent diagnosis of a rare disease within the immediate family, which could be inherited
  • Your patient has a particular type of cancer that could be inherited
  • Your patient has a type of cancer where testing the tumour may indicate the most effective treatment
  • Your patient has a health condition that could be passed onto their children

Consideration of practical and ethical aspects of the process including consent, what happens to genomic data and samples needs to form part of your conversation, as well as incorporating genomic research into your clinical practice:

  • provides a diagnosis of a rare health condition
  • supports your patient and their family to understand what the test results and diagnosis means 
  • highlights to the patient how lifestyle changes and health ‘surveillance’ can reduce the risk of developing certain conditions, including some types of cancer
  • Informs your decision-making process when identifying the most appropriate pathway of care for your patient
  • Inform your prescribing decisions
  • Identify if your patient is appropriate to join a clinical trial 

Listed below are a small selection of scenarios that showcase how and where genomics can be applied to clinical practice and specialisms across the NHS.

Practitioners within General Practice and Primary Care

Cancer: some individuals carry gene variants that make them more susceptible to certain types of cancer i.e., the BRCA1 gene variant which may result in an 80% lifetime risk of developing breast cancer.

Taking a family history is important as it helps identify a history of cancer in a family that could be inherited and could be confirmed via testing. 

Rare, inherited conditions: There are more than 7,000 rare diseases of which the majority are inherited. Genomic testing plays an important role in diagnosing rare diseases resulting in better care for the affected individual and their family.

Pharmacogenomics: is the application of genomics to inform the prescription of the right drugs for a patient and predict side effects or if a drug will work. For example, 10% of people carry a genetic change which means they will not respond to codeine.
Nurses

By the nature of their profession, nurses and midwives spend a lot of time with patients and have an important role in highlighting the benefits of genomics to patients.   

These conversations have a real value as they provide the opportunity to identify whether the patient and family members would benefit from a referral into a genomics service; a conversation about a patient’s family may reveal a history of young-onset heart disease or other conditions occurring across earlier generations, opening access to testing and subsequent diagnosis or preventative actions.

Early screening can save lives so it is vital that those who may benefit from genomic testing are referred. The types of genetic testing and screening continue to grow, so patients may be eligible now who weren’t in the recent past.
Midwives

Genomics can be adopted across midwifery practice by specialism, for example, screening midwives support patients and clinicians to understand the implications and benefits of screening. 

Midwives trained in ultrasound should have an awareness and understanding of genomics. The examination of the developing fetus using ultrasound not only enables measurements to be made to identify growth or fetal anomaly, but it informs the phenotype in some genomic conditions.

Research Midwives play a vital role in genomic pregnancy research, as well as fetal medicine midwives who support families with counselling prior to testing and following a diagnosis.
Pharmacists and Pharmacy Technicians

Genomics is another tool for medicines optimisation; genomic information can be used to personalise a patient's treatment, inform treatment selection and optimise dosing. The results of genomic testing can mean that a patient is eligible for certain treatments, for example in cancer care where variants in the tumour DNA mean that the cancer is more likely to respond to certain drugs.

Pharmacogenomics can be used to predict if a patient will experience side effects; pharmacy staff should advocate for the rational and equitable use of pharmacogenomics during medicines reconciliation. 

Genomic information can be used as part of shared decision-making consultations, such as during structured medicine reviews or in polypharmacy clinics.
Health Visitors

As with Nurses, Health Visitors are uniquely placed, able to build, close and trusting relationships with patients and their families.

Health Visitors have the opportunity to start a conversation about genomics, to help recognise when a child or their family might benefit from genomic testing i.e. when a child in their care has an undiagnosed condition that might benefit from a referral to clinical genetics. They may also signpost to specialist genomic services, screening and management programmes, and the investigation of family history, via genomic counselling.
Cardiologists

Cardiologists and other health professionals within cardiovascular medicine are encountering genomic information as part of their practice for example being able to identify specific genetic changes can play an important role in reducing risk for family members and provide a reason for the unexpected death of a relative

Genomics is central to the diagnosis of inherited cardiac conditions but will also become available in relation to the identification, assessment, and management of common cardiovascular diseases, i.e., coronary disease and hypertension.

We will be sharing stories from some of our NHS colleagues who have direct experience of applying genomics within their clinical practice, for the benefit of their patients. 

If you would like to share your experiences, then please contact us via the contact form on this website.

Useful links:

Health Education England’s – Genomics Education Programme

Health Education England’s - Genomics Education Programme website provides a wealth of learning and development opportunities for NHS professionals, to support informed application and best use of genomics within their area of clinical practice.