Patients with genetic conditions, at risk of a genetic condition, or suspected to have a condition, may be referred to a clinical genetics service. In the North West, services are based in Liverpool and Manchester where doctors, nurses, and genetic counsellors work with other professionals across the NHS, to co-ordinate care for patients.

A person referred for a genetics appointment will be asked questions about their health, that of family members and may have a clinical examination. In addition, genomic tests may be appropriate.

Genomic testing, also known as genetic testing, identifies changes in genes that can cause health problems and is primarily used to diagnose inherited and rare conditions and some cancers. 

You may be offered a test because:

  • your doctor or clinician thinks you might have a health condition caused by a change to one or more of your genes
  • someone in your family has a health condition that's caused by changes to genes or
  • they have had a particular type of cancer that could be inherited
  • you or your partner have a health condition that could be passed on to your children
  • you have cancer and doing a genetic test may help doctors determine the most appropriate treatment
  • it can help doctors choose a safe or effective medicine for you

A test can: 

  • help to diagnose a rare or inherited condition that may affect you and your family
  • show if you are at higher risk of getting certain health conditions, including some types of cancer
  • guide doctors and clinicians who need to decide what treatment to provide 
  • guide doctors on whether you're able to join a clinical trial 

Listed below are some patient scenarios produced to show how genomics can be used to support the diagnosis and management of health conditions including cancer, heart disease, and diabetes.

Listed below are some patient scenarios produced to show how genomics can be used to support the diagnosis and management of health conditions including cancer, heart disease, and diabetes.

DPYD gene testing for patients with cancer

Over 40,000 cancer patients (especially those with bowel and breast cancer) every year in the UK are treated with certain types of chemotherapy called fluoropyrimidines, including 5-FU and capecitabine).

We know that changes in a gene called DPYD are associated with an increased risk of side effects from these drugs.

Approximately 1 in every 12 people who carry a single change in their DPYD gene have a higher risk of side effects to 5FU and capecitabine, as their bodies are unable to handle the drugs correctly and should receive a reduced dose.

1 in every 1000 people carries two changes in the gene and should be given a different treatment as the risks of severe side effects are so great. 

Familial Hypercholesterolemia (FH)

Familial hypercholesterolemia is an inherited condition, caused by a change in a gene that's usually passed down from a parent affecting 1 in 250 people. 

Very rarely (1 in a million in the population), a child can inherit a gene change from each parent resulting in a very severe form of the condition. gene from both parents.

The change prevents the body from removing the type of cholesterol that can build up in arteries and cause heart disease. 

Lynch syndrome

Lynch syndrome (LS) is an inherited condition caused by changes in genes that can lead to an increased risk of colorectal, endometrial (womb) and other cancers. 

Individuals with Lynch syndrome have a lifetime risk of bowel cancer of up to 80% and endometrial cancer of 60% depending on which gene is affected.  

Current estimates suggest that LS affects 1 in 250 people, with an estimated 200,000-300,000 people in the UK living with the condition but less than 5% have a confirmed diagnosis that they are aware of the risks to themselves and family members. 

Sudden Cardiac Death

Rare genetic differences increase a person’s risk of serious heart rhythm and heart muscle problems. These can result in sudden cardiac death even when there are no previous symptoms, especially in young people.

Identifying the specific genetic changes responsible for sudden cardiac death can provide important information to reduce the risk in surviving family members and provide an explanation for the tragic cause of death in the affected individual.

Monogenic Diabetes

Monogenic diabetes is a rare type of diabetes that is caused by a change in a single gene.  

It is different from both type 1 and type 2 diabetes and requires genetic testing to confirm a diagnosis. This then allows screening of family members and selection of the best treatment.

Patient case studies

We hope to be able to share real-life stories from some of our patients and families from across the North West, who have genetic conditions and who are happy to share their experiences of clinical services and genomic testing.  

If you have lived experience of genomic testing in the last two years and would like to share your experiences and story with others, please get in touch by visiting our Contact Us page we look forward to hearing from you. 

Below is a patient story that briefly highlights one family's experiences.

A 40-year-old man with a mild learning disability, living at home with his parents for the last five years had started to become more forgetful, started to have some seizures, and developed an unsteadiness about him.  He had an older brother who had more severe learning disabilities and he too had deteriorated over the last 10 years and now he is in a wheelchair full time, fed via a feeding tube into his stomach as his swallowing had deteriorated too much.

There was also a younger brother who has become increasingly concerned that there may be something genetic in the family and with this wish to have children in the near future, wanted to explore it further.

The family had tried for many years to gain a diagnosis for the two older siblings, going from hospital to hospital having various tests and investigations with no success.  They enrolled in the 100K Genomes Project and six months later, to the surprise of all, the two older siblings were diagnosed with Sanfilippo C, a milder variant of the very rare condition called Sanfilippo syndrome. 

Prior to having a genetic diagnosis, the family faced uncertainty about what the future would hold, whether any treatment was available, and worry due to the fact of a clear change in their two oldest sons’ condition

Following diagnosis, the family was able to access patient support groups and meet with disease experts who were able to carry out the appropriate tests and investigations to guide a plan of care.

The younger brother and his partner were referred for genetic counselling to find out if they were carriers of the disorder.

Reproduced with the consent of NHS England and Improvement