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Genetic enquiries

Discover how the National Disease Registration Service (NDRS) supports NHS clinical genetics services by offering a service to check cancer diagnoses within families.


Most cancer is not inherited. However, in some families, similar cancers occur in several close relatives, perhaps at an unusually young age. Families like this are offered genetic counselling in an NHS clinic, where their cancer risk is assessed, and family members can be offered screening and / or genetic testing, where appropriate. In some families, an inherited genetic variant explains the cancers in the family.

Individuals with a strong family history of some cancers can attend cancer genetic counselling clinics. Genetic counselling helps to investigate possible genetic causes for a higher risk of cancer. This can help to diagnose and treat cancer earlier.

One of the best-known examples of inherited cancer risk involves the BRCA1 and BRCA2 genes. Certain inherited variants (‘spelling mistakes’) in either of these genes mean that the gene no longer works properly, so the person with the variant has a high risk of developing breast or ovarian cancer.

When a patient or family has genetic counselling, the first step is to build up a picture of all the family members, and who has had cancer. A family tree, or ‘pedigree’ is drawn. The genetics clinic then checks each cancer diagnosis with us in NDRS. Any living family members with cancer must give their consent to the genetics clinic before these checks can take place. Each genetics service is registered on our system so that we can be sure exactly who is asking for a diagnosis to be checked – we will only release patient information to verified clinical genetics services.

Genetic services in the NHS

Clinical geneticists and genetic counsellors working in NHS clinical genetics services can access a secure online portal on the NHS network into which they can input details of their patient’s relative(s). To do this, they need signed consent from living family members who have a cancer diagnosis. We then match each person’s details to their record in the cancer registration dataset and, using a secure NHS email account, we provide the clinical genetics service with details of the correct cancer diagnosis for each family member.

This service gives the clinical geneticist or genetic counsellor complete confidence of the cancer diagnoses within the family. They can offer their patient personalised genetic counselling and the most appropriate genetic testing and medical management.

The National Disease Registration Service (NDRS) receives around 20,000 genetic requests every year, with an average response rate of 3 working days.

If you are a clinical geneticist or genetic counsellor, you can find out how to make genetic enquiries to NDRS in our user guide below in the supporting information section.

How NDRS uses genetic data

Here is an example of a family where information from NDRS was important in identifying a genetic cause for their cancer. We have changed the names and some minor details for confidentiality reasons, but this is a real case, given to us by a clinical genetics doctor.

Jean came for genetic counselling, as she had had breast cancer at age 68, and wanted to know if her daughter, Helena, was also at risk. Jean’s mother had died at age 55 from a cancer in her abdomen. On a first look, there didn’t seem to be any obvious pattern in this family. Breast cancer is quite common, especially at Jean’s age, so it seemed unlikely that there were genetic factors involved.

The below image shows the original family tree – square symbols are male, and circles are female:


Image of a genetic family tree

The genetics service checked Jean and Elsie’s details with us in NDRS. We were quickly able to confirm Jean’s diagnosis of breast cancer. Elsie’s information required us to do a little bit more digging – but our historical cancer records from the 1970s showed that Elsie’s ‘abdominal’ cancer was in fact a cancer of the ovary. This new information completely changed the outlook for the family.

The below image shows the family tree with the new information from the cancer registry:


Image of the revised genetics family tree

A combination of breast cancer, alongside ovarian cancer in a first degree relative aged under 60, meant that the family were eligible to have their BRCA1 and BRCA2 genes tested. Jean decided she would have the genetic test done, and the lab identified a harmful variant in one copy of her BRCA1 gene.

Jean’s daughter Helena came for genetic counselling. She knew that there was a 50% chance that she had inherited the harmful BRCA1 variant from her mother. The genetic counsellor talked Helena through her options for genetic testing and screening. Helena decided she wanted to have the genetic test. The result showed that Helena had inherited the genetic variant, so was at high risk of developing breast and ovarian cancer. Helena decided that she would go ahead with the annual breast screening to which she was now entitled. She also decided that she would have her ovaries and fallopian tubes removed in order to manage her risk of ovarian cancer.

After Helena’s surgery, her ovaries and fallopian tubes were examined in the pathology lab. The pathologist identified an abnormal area in one fallopian tube, where the cells were beginning to invade – these abnormal cells were clearly in the very early stages of developing into a cancer. As the abnormality in the fallopian tube was identified at such an early stage, Helena didn’t need any further treatment. Although it had not been an easy time for her, she was very glad that the genetic counsellor had given her options, support, and clear information.

For this family, having the correct historical information from the cancer registry completely changed what testing the genetics clinic were able to offer, and probably saved Helena’s life. Of course, that doesn’t happen for all of the 20,000 genetic enquiries we deal with each year – but we know that each enquiry is about a real family, and our genetic processing officers go the extra mile to find as much information as they can on each person. It’s incredibly rewarding to know that the information we provide means that each person and family is given the best possible personalised care from their clinical genetics team.

If you are concerned about your own family history of cancer, please discuss this with your GP so that you can be referred to a genetic counsellor or family cancer service if appropriate.

Supporting information

Last edited: 19 October 2022 1:49 pm