What do I need to know?

Many people have a family history of a condition – for example, breast cancer or cystic fibrosis. In some of these cases, screening and/or genomic testing can be offered to family members who may have an increased chance of developing a condition. As early screening can save lives and allow early intervention, it is vital that anyone who may benefit is referred for genomic testing. The number of conditions and cancers for which testing and screening are offered is growing all the time. Your patients may be eligible for testing now or next year when they weren’t previously.

There are around 7,000 rare diseases and many of these are undiagnosed. Undiagnosed rare disease usually affect children, although there are also adults who are yet to receive a diagnosis. Advances are being made in this area all the time, and a new technology known as next-generation sequencing now allows us to sequence the whole human genome (a process known as whole genome sequencing) much more cheaply and quickly than ever before. Increasing numbers of people will be eligible for testing through the new GMS, with the aim of finding answers for more patients.

It isn’t just rare diseases that are benefiting from advances in genomics. Increasingly, genomic testing is being used to better diagnose and/or sub-type common conditions, too. One example of this is monogenic diabetes, which is diagnosed by genomic test and for which a different form of treatment and management is used.

Genomic data – that is, information about the DNA of a person or organism – can sometimes enable us to target treatment. For example, many patients receive cancer treatment that is targeted to the genetic mutations within the DNA of their tumour cells, while other medications target the specific DNA mutations of a bacteria – for example, in some cases of TB. In other instances, the genetics of a person themselves can be analysed to see how (and if) they will respond to medication before it is given. This is known as pharmacogenomics and is an area of growth in healthcare.

In order for the great advances that have been made in genomic technology to truly benefit our patients, we need to continue to find new links between genes and disease. There are many opportunities for nurses to be part of research or simply to refer patients who may be eligible for particular research projects. Ultimately, it’s all of our responsibility to take part in the genomics revolution.

Rare disease nurses support families affected by rare conditions and help them through the health and social care system. Roles in rare disease are often charity funded. For example, Cambridge Rare Disease Network has rare disease nurses, and Birmingham’s Women’s and Children’s Rare Disease Centre has two specialist rare disease nurses funded by Roald Dahl’s Marvellous Children’s Charity.

There are also nurses who specialise in a particular rare condition, such as:

• Familial hypercholesterolemia: These roles usually involve identifying and supporting affected families. You can read more about this work in the North East and Cumbria and the West Midlands.
• Monogenic diabetes: Specialist genetic diabetes nurses support patients with this rare form of diabetes and their families, as well as increase recognition and diagnosis of monogenic diabetes among healthcare professionals. More information can be found here.

Nurses working as experts within a particular clinical area, for example oncology, cardiology or ohthalmology, will increasingly be trained in the specific management of inherited genetic conditions and targeted treatment within their area. Keeping abreast of rapid developments in genomics is a key part of the role in many specialisms. Here is an example of the work that a clinical nurse specialist may do, taken from the field of renal medicine.

As new initiatives are developed, it is often appropriate for specialist nurses to become involved with service development to help meet patient needs and address patient demands, with the overall aim of improving patient outcomes. The contact that specialist nurses have with patients means they are uniquely placed to take part in such work.

Although advances in genomics have been rapid and impressive, we still have a long way to go. Ongoing research is vital if we are to ensure that all patients can benefit. There are many opportunities to be involved with research projects as a nurse, and you may choose to specialise in this area. The work may involve developing hypotheses, recruiting patients to research projects, training other members of staff, collecting and analysing data, and caring for and communicating with those patients who are involved.

Nurses are valued members on many boards and in collaborations between different organisations and charities. You can hear from Dr Christine Patch about her work with the Global Genomics Nursing Alliance and how to get involved in our podcast.