There are already many applications for genomics in nursing, with more emerging all the time. Some examples are outlined below.
Family history and early screening
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.
Trying to find answers for patients and families
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.
New advances in common conditions
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.