This article discusses the roles nurses may play in bringing the benefits of genomic medicine to patients
Genomic medicine can improve patient care through supporting quicker diagnoses and enabling more tailored care. In England, genomic testing has already been introduced for patients with some rare conditions and cancers, and, as understanding of the genome increases, it is likely to become part of more care pathways. This article discusses the key roles nurses may play in bringing the benefits of genomics to patients as it becomes part of routine care, including in identifying patients for genomic testing, discussing testing with patients, referring to genetic counselling services or the relevant clinicians for targeted therapies, and personalising care plans. We also explain how the NHS Genomic Medicine Service Alliances will work with nurses to help bring genomics into mainstream healthcare.
Citation: Buaki-Sogo M, Percival N (2022) Genomic medicine: the role of the nursing workforce. Nursing Times [online]; 118: 8.
Authors: Maria Buaki-Sogo is lead nurse, North Thames Genomic Medicine Service Alliance; Natalie Percival was formerly chief nurse, North Thames Genomic Medicine Service Alliance, and is currently director of nursing, systems and professional development at NHS England.
Genomics is the study of all the deoxyribonucleic acid (DNA) the genome of an organism. All living organisms, whether single-celled bacteria, multicellular plants, animals or humans, have DNA, which contains the information needed for an organism to grow, survive and reproduce. DNA is arranged into genes, a sequence of nucleotides which are code for proteins that are essential for building and repairing an organism. There are also non-coding regions, which influence how these genes interact. A genome includes both the genes and the non-coding regions.
Human DNA is made from four separate chemical bases, known as A (adenine), C (cytosine), G (guanine), and T (thymine), with the whole genome made up of more than three billion DNA bases. Every humans genome is around 99.9% the same, but that 0.1% difference equates to around three million differences between one persons DNA and the next persons (Health Education England Genomics Education Programme, nd). Some of these differences in our DNA will have no impact on a persons health, but other variations may cause a genetic condition, influence our predisposition to develop certain conditions, and can even affect how we respond to some drugs.
Over the past decade, transformative advances in DNA sequencing technologies have enabled a vast expansion in human genome analysis for the purpose of diagnosing and managing human diseases. The scope of genetic testing now ranges from analysing a single gene to using multigene panels which can analyse from five to 100 genes known to be associated with the development of a condition or a collection of clinical symptoms through to whole genome sequencing, where it is possible to determine the entire human genome (International Human Genome Sequencing Consortium, 2004).
The use of this more advanced genomic testing has the potential to deliver tangible improvements for patients, including effective and quicker diagnosis of rare conditions, personalised treatment, better care for those with inherited conditions and cancer, and a clearer understanding of the underlying cause of diseases.
The role of the nursing workforce will be to offer genomic testing with confidence
In England, genomic testing, including whole genome sequencing, is now available for patients with certain rare diseases and cancers to enable better prediction, diagnosis and treatment.
In clinical practice, whole genome sequencing still requires the application of virtual panels for the analysis. As understanding of the genome and capacity in the NHS evolves, genomic testing will increasingly become part of routine care pathways for more conditions.
As a nursing community, we must be ready to adapt our current practice to reflect these innovations and ensure that our patients have access to the benefits that genomic testing can offer.
Nurses are often in an ideal position to offer support and advice to patients, whether they are living with cancer, long-term conditions or inherited genetic disorders, which need lifelong care. We work across a broad range of settings on the front line, are committed to our patients, and are typically strong and empathetic communicators, as described in the values set out in The NHS Constitution for England (Department of Health and Social Care, 2021). Nurses are vital to assisting the NHS in offering the latest advances, and it is important that we understand how genomics will affect our practice and the experiences of our patients.
Specialist nurses will work in partnership with the clinical team to offer tailored information and specific genetic testing relevant to the patients condition to inform treatment decisions. Senior nurses will also be able to support junior nurses to gradually acquire knowledge and understanding of genomic medicine to embed in their practice.
For nurses who have a lot of patient contact, gaining knowledge on the core principles of genomics may help them increase uptake of genetic screening, signpost service users to the right place to seek health advice, and could also help to address inequalities in access to genomic medicine services.
Genomic medicine is already embedded in some oncology nursing pathways. At present, genomic testing is available for inherited diseases or forms of cancer included in the National Genomic Test Directory (NHS England, 2022). Use of genomic testing could help the NHS reach its aim of diagnosing 75% of all cancers at stage 1 or 2 by 2028 (NHS England, 2019).
The North Thames Genomic Medicine Service (GMS) Alliance is working in partnership with key stakeholders to support the nursing workforce to acquire the skills and the level of knowledge to accomplish this mission effectively and efficiently. In some places, patients are driving forward conversations and we recognise the importance of patient involvement in establishing the best way to influence care pathways. Patient and public involvement is a key part of the North Thames GMS Alliances strategy, and collaborative work with patient groups is being developed.
With the right level of understanding of genomics, the support of their local trusts and the local systems, the role of the nursing workforce will be to offer genomic testing with confidence, helping to embed routine genetic testing in the NHS. This will mean:
Evidence suggests that continuity of care positively affects health outcomes and patient experience (Lautamatti et al, 2020). Nurses are often well positioned to provide this and to build strong and trusting relationships with patients and their relatives.
Consequently, we can help our patients access better care, understand the impact of inherited disease on their lives, and give them the opportunity to plan for a better quality of life. Patients and their families will have access to more precise medicine that will give clinicians the ability to offer targeted and personalised treatment, based on their unique genome (pharmacogenomics).
As genomic medicine continues to evolve and additional tests become available that can benefit patient care, nurses can also help define how these tests can be brought into practice across their specialities. We are right at the beginning of the use of genomic medicine in the NHS, and there is a real opportunity for nurses to be part of service design. We have the chance to help improve guidelines across many areas of clinical practice and be international leaders (Tonkin et al, 2018).
By embedding genomic medicine in mainstream care and providing nurses (and other practitioners such as midwives) with appropriate training on ordering genomic testing to patients, practitioners will also be able to embrace their autonomy and clinical judgement to provide genomic services to patients more effectively and efficiently.
There are, of course, ethical issues to consider when discussing the widespread use of genomic medicine in the NHS. For example, we know that some patients will not want to know their risk for future conditions or their carrier status. There is also an ongoing national discussion around whether sequencing newborn babies for rare conditions beyond the current heel-prick test should become part of practice, and how this data and consent would be managed. As nurses, it is important that we bring our knowledge and perspectives to these conversations as the genomic medicine system is being designed and embedded in the NHS (Box 1). For now, where genetic tests provide actionable results that can help us improve patient care and outcomes, nurses are vital to making these accessible for patients in an equitable way and supporting them to make informed decisions.
Box 1. Embedding genomics services in the NHS
We believe that nurses are a key element in the implementation of routine genetic testing in the NHS, but for nurses to assist with better use of genomics in mainstream healthcare they will need financial aid for training and support to acquire the appropriate skills and knowledge. Existing workforce pressures, a historical lack of secure funding on education and training, as well as inequalities in health, are all barriers that need to be acknowledged and addressed.
There is some support already being put in place for the nursing community through the establishment of seven regional GMS Alliances established in England in January 2021. One of the main purposes of the GMS Alliances is to provide training and education opportunities, which will help health professionals, including nurses, to increase their knowledge of genomics and keep up to date with how this may affect their clinical practice. There are also several training and education resources provided by Health Education England at national and regional levels, including continuing professional development programmes supported by the educational teams within each GMS Alliance (Health Education England Genomics Education Programme, nd).
At a service development level, nurses are also being consulted on how genomic medicine can work within their organisations (see Box 2 for an example of how this is used in practice). The GMS Alliances are working with healthcare organisations and nurses to improve current frameworks and pathways of care, tackling inequalities in accessing genomic testing, and promoting patient-centred care via the increased presence of patient and public involvement groups.
Box 2. Lynch syndrome: an example of genomic medicine in current practice
There is a need for further training opportunities to help prepare the nursing workforce for the future, and for ongoing consultation to ensure genomics is implemented in the right way. Powerful and influential nursing leadership is required in the UK to embed the genomics framework into nursing education pathways at all levels of practice and make sure the impact of genomics on the nursing workforce is understood and considered in decision making. This is to ensure that nurses can develop the core competencies and confidence in their understanding of genomic medicine required to meet the service users needs.
GMS Alliances are working with nurses, patients and the public to build trust in genomics and to support the multiprofessional workforce to use genomics safely and effectively. By embedding genomics into the mainstream health service, our aim is to deliver improvements for patients, including better and quicker diagnosis of rare conditions, personalised treatment, and care for those with inherited conditions and cancer, as well as building a better understanding of the underlying cause of many diseases. To achieve this, nurses need support to develop genomics literacy and begin to use genetic testing within their care pathways.
Bowel Cancer UK (2018) Testing for Lynch syndrome what you need to know. bowelcanceruk.org.uk, 9 April (accessed 23 June 2022).
Department of Health and Social Care (2021) The NHS Constitution for England. gov.uk , 1 January (accessed 23 June 2022).
Health Education England Genomics Education Programme (nd) What is genomics? genomicseducation.hee.nhs.uk (accessed 27 June 2022).
Hegde M et al (2014) ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genetics in Medicine; 16: 1, 101-116.
International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature; 431, 931-945.
Lautamatti E et al (2020) Continuity of care is associated with satisfaction with local are services. BMC Family Practice; 21: 1, 181.
Li X et al (2021) Recent advances in Lynch syndrome. Experimental Haematology and Oncology; 10: 37.
NHS England (2022) National Genomic Test Directory. england.nhs.uk (accesssed 5 July 2022).
NHS England (2019) The NHS Long Term Plan. NHSE.
St Marks Hospital (2019) Lynch Syndrome: Information for Patients. North West Thames Regional Genetics Service.
Tonkin ET et al (2018) The first competency-based framework in genetics/genomics specifically for midwifery education and practice. Nursing Education in Practice; 33: 133-140.
Read more:
Genomic medicine: the role of the nursing workforce - Nursing Times
- 1st draft of a human 'pangenome' published, adding millions of ... - May 17th, 2023
- A Brief Guide to Genomics - National Human Genome Research Institute - May 17th, 2023
- Human genetics - Immunogenetics | Britannica - April 23rd, 2023
- A Troublesome Inheritance - Wikipedia - April 23rd, 2023
- Human - Simple English Wikipedia, the free encyclopedia - January 29th, 2023
- Human Genetics and Genomics Training Program - Hopkins Medicine - January 4th, 2023
- Genetics vs. Genomics Fact Sheet - Genome.gov - December 18th, 2022
- Human Genetics and Molecular Biology, PhD - Johns Hopkins University - December 18th, 2022
- Race (human categorization) - Wikipedia - December 2nd, 2022
- Human Y-chromosome DNA haplogroup - Wikipedia - November 24th, 2022
- Abstracts | International Congress of Human Genetics 2023 - November 24th, 2022
- Human genetic variation - Wikipedia - November 6th, 2022
- Genetics | The Smithsonian Institution's Human Origins Program - October 29th, 2022
- Fluent BioSciences showcasing breakthrough solutions to enable unprecedented scale, cost-efficiency and access for single-cell RNA sequencing at the... - October 29th, 2022
- Researchers seek to unravel the mystery of susceptibility to drug addiction - Newswise - October 4th, 2022
- NIH initiative to systematically investigate and establish function of every human gene - National Institutes of Health (.gov) - October 4th, 2022
- ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma | Communications Biology - Nature.com - October 4th, 2022
- Does obesity have more to do with the brain than we initially thought? - Medical News Today - October 4th, 2022
- Who will get the call from Stockholm? It's time for STAT's 2022 Nobel Prize predictions - STAT - October 4th, 2022
- Solving medical mysteries: Physicians and researchers collaborate to study the most challenging cases - AAMC - October 4th, 2022
- Mystery gene matures the skeleton of the cell - EurekAlert - October 4th, 2022
- What Is The Most Important factor Driving The Global Human Genetics Market? - PharmiWeb.com - September 25th, 2022
- How Africa's genetic diversity can be harnessed to close the continent's 'drug and treatment gap' - Genetic Literacy Project - September 25th, 2022
- Ability to move to the pulse of music has genetic link - DTNEXT - September 25th, 2022
- Is the Spike Protein Changing Our Gene Expression? - The Epoch Times - September 25th, 2022
- How prehistoric DNA is helping to unlock the secrets of human evolution - EL PAS USA - September 25th, 2022
- Personalised medicine and the advantages of big data and AI-based diagnostics - Medical Device Network - September 25th, 2022
- Viewpoint: In the post Roe v Wade world, what changes should a biology textbook writer make to address the medical repercussions of Dobbs? - Genetic... - September 25th, 2022
- Bears' ability to regulate insulin narrowed down to eight proteins WSU Insider - WSU News - September 25th, 2022
- Sex, Selection and Biodiversity - Syracuse.edu - Syracuse University - September 25th, 2022
- Was the Russian Flu the first coronavirus pandemic? Find out at next Science Caf - University of Nebraska at Kearney - September 25th, 2022
- University of Chicago South Side Science Fest created to show off the fun, myriad pathways into field. - Chicago Tribune - September 25th, 2022
- The genetics of human personality - PubMed - August 14th, 2022
- Genetics - The Harvey Institute for Human Genetics - GBMC HealthCare in ... - August 14th, 2022
- Degrees of the Future 2022: Genetics - Gizmodo - August 14th, 2022
- U of U Health-Led Research Awarded $28 Million to Explore HIV's Inner Workings and Vulnerabilities - University of Utah Health Care - August 14th, 2022
- Revisiting Companies That Had Their IPO in 2018 - Investment U - August 14th, 2022
- Monkeypox Myth Busting: Here's What You Need to Know - The Mighty - August 14th, 2022
- Relay Therapeutics Reports Second Quarter 2022 Financial Results and Corporate Highlights - Yahoo Finance - August 5th, 2022
- Baylor receives NCI grant to study liver cancer risk and prevention - Baylor College of Medicine News - August 5th, 2022
- Whole Exome Sequencing Market reach a valuation of US$ 4,256.30 Mn, at a CAGR of 19.24% in the Forecast 2030 - BioSpace - August 5th, 2022
- Mendels Genetic Revolution and the Legacy of Scientific Racism - NewsClick - August 5th, 2022
- AMGEN TO ACQUIRE CHEMOCENTRYX FOR $4 BILLION IN CASH - BioSpace - August 5th, 2022
- Cotton Buds Market Value Is Estimated to Reach USD 747.16 BN By 2028, With 3.2% CAGR Credence Research - Digital Journal - August 5th, 2022
- Verve Therapeutics Shares Up 84%; ARKG Offers Exposure - ETFdb.com - July 27th, 2022
- Double up on the guac? Those avocados are good for your heart health - American Heart Association - July 27th, 2022
- Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome | European Journal of Human Genetics - Nature.com - July 27th, 2022
- Scientists Unravel the Mystery of Junk Genes That Are Key to Brain Development - SciTechDaily - July 27th, 2022
- COVID-19 Can Make the Brain Age by 2 Decades; Here's 1 Way to Reverse Aging - The Epoch Times - July 27th, 2022
- Mice Model Market Forecast to 2028 - COVID-19 Impact and Global Analysis By Type, Service, Technology, Indication, End User, Application, and Mode -... - July 27th, 2022
- Master's Degree in Human Genetics | Human Genetics | Michigan Medicine ... - July 11th, 2022
- Here's how the $100 Human Genome will Change Medicine - BioSpace - July 11th, 2022
- AbbVie Half Breaks Up with Alector on Alzheimer's - BioSpace - July 11th, 2022
- The human identification market size is projected to reach - GlobeNewswire - July 11th, 2022
- Global wheat production can be doubled to feed millions and save land, say scientists - Sky News - July 11th, 2022
- Huntsville native among TIMEs 100 most influential people - WHNT News 19 - July 3rd, 2022
- New hope for IVF patients as global study published in Human Reproduction shows AI can effectively assess genetic integrity of embryos - Yahoo Finance - July 3rd, 2022
- A Week At The Most Secretive Conference On Aging - Forbes - July 3rd, 2022
- Human genetics shape the gut microbiome - PMC - June 13th, 2022
- expert reaction to a conference abstract on retinal screening predicting risk of myocardial infarction - Science Media Centre - June 13th, 2022
- New Comprehensive Map Ties Every Human Gene to Its Function - SciTechDaily - June 13th, 2022
- Buffalo shooters manifesto quoted a university researcher. Thats raising questions about racism in academia - Yahoo News - June 13th, 2022
- Thalidomide could be used as a therapeutic for AVMs - Cosmos - June 13th, 2022
- How Electric Fish Were Able to Evolve Electric Organs - UT News - University of Texas - June 4th, 2022
- Survival of the Best: The Past, Present and Future of Plants - CSRwire.com - June 4th, 2022
- AMGEN ANNOUNCES WEBCAST OF 2022 JEFFERIES HEALTHCARE CONFERENCE | News | wfmz.com - 69News WFMZ-TV - June 4th, 2022
- Experts Discover New Disease Caused by Faulty Genes Affecting the Kidney and Liver: Newcastle University Study - Nature World News - June 4th, 2022
- At-Home Colorectal Cancer Testing and Follow-Up Vary by Ethnicity - Medscape - June 4th, 2022
- Who is your real parent? Our Father on Netflix depicts the dark side of 'secret serial sperm donation'. My birth has a similar origin but with a more... - June 4th, 2022
- Autism and the complete human genome: Q&A with Evan Eichler | Spectrum - Spectrum - May 15th, 2022
- Increased Mutations in Children Can Be Traced Back to Mistakes in Father's Sperm - Neuroscience News - May 15th, 2022
- Not All Is Rosy For The Pink Pigeon - Eurasia Review - May 15th, 2022
- Why haven't we cloned a human yet? - Livescience.com - May 15th, 2022
- Study probes the relationship between genetics, proteins, and disease risk - The Hub at Johns Hopkins - May 15th, 2022
- Singular Genomics Announces Formation of Scientific Advisory Board - BioSpace - May 15th, 2022
- COVID Resistance Might Be Tied To Genetics: Experts - Medical Daily - May 15th, 2022
- Letter: Why no to Roe and abortion - INFORUM - May 15th, 2022
- Gut Microbiome Composition Predictive of Patient Response to Statins - Business Wire - May 15th, 2022
- Finding A Place In Science - Texas A&M Today - Texas A&M University Today - May 15th, 2022
- Parag Agrawals wife Vineeta linked with Musks Twitter takeover - The Siasat Daily - May 15th, 2022