Supporting patients undergoing genomic testing for Lynch syndrome as part of their diagnostic cancer pathway
Intended for healthcare professionals

Supporting patients undergoing genomic testing for Lynch syndrome as part of their diagnostic cancer pathway

Siobhan John Lynch nurse facilitator for the NHS South West Genomic Medicine Service Alliance, Royal United Hospitals Bath NHS Foundation Trust, Bath, England

Why you should read this article:
  • To increase your awareness of the growing importance of personalised medicine in cancer services

  • To enhance your understanding of the support needs of patients who undergo genomic testing

  • To contribute towards revalidation as part of your 35 hours of CPD (UK readers)

  • To contribute towards your professional development and local registration renewal requirements (non-UK readers)

Knowledge of genomics and genetic testing is increasingly being used to inform cancer diagnosis, prognosis and effective treatment, known as personalised or precision medicine. The NHS aims to embed genomics into diagnostic pathways, meaning that it is becoming a routine aspect of cancer care. Therefore, it is important that cancer nurses have an understanding of genomics and personalised medicine so that they can provide appropriate information and support to patients and families. This article is designed to equip nurses with the skills to start essential genomic conversations with patients to support them through their cancer pathways. It focuses on Lynch syndrome, an inherited condition that increases the risk of developing certain cancers, and explains the genetics, testing, surveillance and psychological aspects of care for patients and families affected by this syndrome.

Cancer Nursing Practice. doi: 10.7748/cnp.2024.e1859

Peer review

This article has been subject to external double-blind peer review and checked for plagiarism using automated software


Conflict of interest

None declared

John S (2024) Supporting patients undergoing genomic testing for Lynch syndrome as part of their diagnostic cancer pathway. Cancer Nursing Practice. doi: 10.7748/cnp.2024.e1859

Published online: 28 March 2024

Aims and intended learning outcomes

This article aims to enable nurses working in oncology departments to understand the importance of genomics in cancer care, and to gain the knowledge and skills necessary to start a genomic conversation with patients. The article focuses on Lynch syndrome, but is designed to assist nurses to have essential genomic conversations with patients who have cancer to support them through their care pathways. Depending on their experience, nurses can decide what level of genomic literacy they want to achieve – beginning with feeling comfortable to start a genomic conversation and potentially leading up to providing genetic counselling and obtaining patients’ consent for genomic tests. After reading this article and completing the time out activities you should be able to:

  • Recognise why it is important for all cancer nurses to have an understanding of genomics.

  • Explain the genetics of cancer and Lynch syndrome, and the role of genetic testing in relation to these conditions.

  • Understand some of the implications of being diagnosed with Lynch syndrome for patients and their families.

  • Identify the skills and competencies that nurses require to start a genomic conversation with patients and families.


The UK has long been recognised as a leader in genomic medicine, starting with the discovery of DNA (deoxyribonucleic acid) (Watson and Crick 1953) and nearly 50 years later participating in the Human Genome Project (Lander et al 2001, Venter et al 2001). Furthermore, the 100,000 Genomes Project, which sequenced 100,000 genomes from around 85,000 NHS patients affected by rare diseases or cancer, laid the foundations for a new era of personalised medicine and contributed towards the delivery of high-quality care for all, now and for future generations (Genomics England 2024, NHS England 2024).

The NHS expects the use of genomic knowledge and technologies to deliver faster, more accurate diagnoses, to support the use of personalised treatments and to improve patient outcomes, including for cancer (Cancer Research UK 2021). The ambition to embed genomic medicine into diagnostic pathways requires the involvement of the front-line clinical workforce. This is commonly referred to as ‘mainstreaming’; that is, upskilling clinical teams so that some genomic testing can be shifted from clinical genetics services to other healthcare services and specialities (Miles 2023). Many specialist nurses are already becoming involved in mainstreaming, with many of their colleagues also looking to improve their knowledge of genomics. Since nurses are the largest group of clinical staff in the NHS (National Audit Office 2020), it is anticipated that there will be a significant need for them to receive further education on genomics.

Genetic testing is increasingly being used to inform cancer diagnosis, prognosis and effective treatment, which is termed personalised or precision medicine. Nurses need to have sufficient knowledge of genomics to be able to support patients to understand why certain treatments may be offered to them, or conversely may not be offered to them, based on their test results. This article aims to equip cancer nurses with the skills and confidence to start these conversations with patients, with a focus on Lynch syndrome – an inherited cancer predisposition syndrome that is particularly associated with the development of colorectal and endometrial cancer.

The Genomic Medicine Service Alliance National Lynch Syndrome Transformation Project, launched in May 2021, aims to establish robust pathways to improve the diagnosis, treatment and surveillance of people affected by the syndrome (Monahan et al 2023). The project focuses on patients with colorectal and endometrial cancer, in accordance with National Institute for Health and Care Excellence (NICE) (2017, 2020) guidance. One of the main aims of the project is to upskill the workforce to identify eligible patients for testing and deliver mainstreamed constitutional gene testing. As a result, nurses can expect to be more frequently involved in the care of people with suspected or confirmed Lynch syndrome when they have been diagnosed with one of the cancers associated with it.

Genetics and genomics

A gene is the basic unit of inheritance and comprises a specific sequence of nucleotides – the ‘building blocks’ of DNA. The nucleus of a cell contains about 20,000 genes. Each gene has a different role, whether it be coding for specific proteins to be made, carrying out specific functions in the body or defining the person’s physical characteristics. An individual inherits half of their genes from each parent. When fertilisation occurs, it is random which genes will be inherited from each parent; therefore, no two individuals will have the same mix of genes, except for identical twins (MedlinePlus 2021).

Key points

  • Cancer develops when changes in a person’s genome result in cells growing and dividing uncontrollably

  • Genetic testing is increasingly being used to inform cancer diagnosis, prognosis and treatment

  • Lynch syndrome is an inherited condition that increases the risk of an individual developing certain cancers, particularly colorectal and endometrial cancer

  • For every person diagnosed with Lynch syndrome through diagnostic testing, a further three family members will be diagnosed with the condition through predictive testing

  • It is important for cancer nurses to gain the knowledge and skills to start genomic conversations so that this becomes a familiar task that is embedded in their role

The terms ‘genetics’ and ‘genomics’ are often used interchangeably, although there are differences between them. It is important that cancer nurses understand and can explain these differences to patients, including in relation to testing.

Genetics is the study of heredity, particularly the function and composition of single genes (Genomics Education Programme 2024a). The focus is on the genes and their roles in inheritance; that is, the way that certain traits or conditions are passed down in the genes from one generation to the next. In healthcare, genetics has typically focused on variations in a single gene when determining the cause of a health condition. Consequently, a genetic test may be performed on a tumour to inform effective treatment.

Genomics is the study of an organism’s complete set of genetic information, known as the genome. The genome includes all the DNA in a person’s genome – both the genes that code for proteins and the non-coding regions. Consequently, the results of a genomic test may have implications for other family members. Genomics focuses on how genes are expressed and the interplay between different genes (Genomics Education Programme 2024a).

Genetics of cancer

For many years, cancer has been known to be a disease of the genes. Cancer develops when changes in a person’s genome result in cells growing and dividing uncontrollably. Between 1970 and 1984 the scientists Harold Varmus and J. Michael Bishop discovered that many cancers arise from a common genetic mechanism involving specific genes present in the normal cells of many different species (National Library of Medicine 2019). Three types of genes are known to have an important role in the development of cancer (American Cancer Society 2022):

  • Oncogenes – proto-oncogenes are genes that usually help cells grow and divide to make new cells, or help cells to stay alive. When a proto-oncogene mutates or there are too many copies of it, it can become activated when it is not supposed to be, at which point it is called an oncogene. When this happens, the cell can start to grow out of control, which may lead to cancer.

  • Tumour suppressor genes – these slow down cell division or tell cells when to die. If they stop functioning properly, cells can grow out of control, which may lead to cancer.

  • DNA repair genes – each time a new cell is formed, the string of DNA with the nucleotide bases (guanine, adenine, cytosine and thymine) that comprise a gene must be copied in the same order. Mistakes are regularly made during this process, so the order of the nucleotide bases may be altered; this change is often referred to as a ‘spelling mistake’. DNA repair genes act to repair mistakes in the DNA or trigger the cell to die so the mistakes cannot cause any further issues. When these genes are not functioning properly, mistakes can persist and build up inside the cell. Some of these mistakes may affect other genes, which can result in the cell growing out of control and subsequently may lead to cancer.

Lynch syndrome

Lynch syndrome is an inherited condition that increases the risk of an individual developing certain cancers, particularly colorectal and endometrial cancer. People with Lynch syndrome have up to an 80% risk of developing colorectal cancer in their lifetime, while women with Lynch syndrome have up to a 60% risk of developing endometrial cancer in their lifetime (Cancer.Net 2023). Box 1 lists the cancers most commonly associated with Lynch syndrome.

Box 1.

Cancers most commonly associated with Lynch syndrome

  • Colorectal

  • Endometrial (womb)

  • Ovarian

  • Pancreatic

  • Prostate

  • Stomach

  • Urinary tract

  • Brain

  • Skin

  • Hepatobiliary tract

  • Small bowel

(Adapted from Dana-Farber Cancer Institute 2023)

Lynch syndrome affects between 1 in 279 and 1 in 400 people, and it is estimated that 175,000 to 200,000 individuals in the UK have the condition (Monahan et al 2023, NHS England 2023a). It accounts for 3% of all cases of colorectal cancer and 2-3% of all cases of endometrial cancer. Despite its prevalence, it is estimated that only 5% of Lynch syndrome cases in the UK have been diagnosed (Monahan et al 2023). Therefore, it is important to increase the identification and diagnosis of this syndrome to improve medical management and cancer prevention for affected families.

A diagnosis of Lynch syndrome can influence the management plan for people who develop cancer, including the surgical approaches and chemotherapy treatments used. In addition, people with Lynch syndrome may benefit from emerging treatments such as immunotherapy. Cancers associated with Lynch syndrome trigger a massive immune response, but the cancer can block the immune system from attacking it; immunotherapy can stop the cancer from blocking the immune response, therefore enabling a patient’s natural immune system to attack the cancer (Pastor and Schlom 2021).

Time Out 1

Think of a patient you have cared for who had one of the cancers listed in Box 1. How would you explain to them what genomic testing is, keeping in mind their level of health literacy?

Genetics of Lynch syndrome

DNA repair genes include mismatch repair (MMR) genes. Each person has four MMR genes, which work together to identify and correct any spelling mistakes that occur during DNA replication, so that new cells formed are identical to their parent cells. If spelling mistakes are not corrected, a new cell that forms will be different from its parent cell; this is called a ‘mutation’ or an ‘alteration’. When this new cell divides and multiplies, the mistake will be duplicated and over time a cancer may develop (Berner 2022). Cell mutations can be either somatic or germline:

  • A somatic mutation is a change in a person’s DNA that occurs after conception. Somatic mutations are only found in cancer cells, so they are not present in every cell in the body and cannot be inherited. Most cancers are caused by somatic mutations, and these may occur for several reasons, such as exposure to environmental toxins (Mahon 2020).

  • A germline mutation is a change in a person’s DNA that is present in every cell in the body, including the egg or sperm cells, and therefore children can inherit it from their parents. It occurs when, after fertilisation, an embryo contains a mutated gene from the sperm or egg. This mutated gene will then be copied into every new cell as the embryo develops (Frost 2022). In the case of Lynch syndrome, this is one of four MMR genes (MLH1, MSH2, MSH6 and PMS2) or another gene called the EPCAM gene which disables the MSH2 gene (NHS England 2021).

Time Out 2

How would you check that patients understand the difference between a germline and a somatic mutation? What questions might you ask them?

Testing for Lynch syndrome

NICE (2017, 2020) guidance states that each person who is newly diagnosed with colorectal or endometrial cancer needs to receive germline testing to determine whether the MMR system is functioning correctly. The test requires extraction of DNA in genomic laboratory hubs and it may take more than two months before the results are available. A germline test for Lynch syndrome may have one of three results:

  • A gene mutation confirming a Lynch syndrome diagnosis has been found.

  • A mutation on an MMR gene has been found, but the mutation is not known to cause Lynch syndrome. This is known as a ‘variant of unknown significance’.

  • No gene mutations are found.

Lynch syndrome is autosomal dominant, meaning that if a person has a mutated MMR gene or a mutated EPCAM gene they will have the syndrome; it is not possible to be a carrier of Lynch syndrome. Therefore, each first-degree relative (parent, sibling or child) of a person with Lynch syndrome has a 50% chance of having the syndrome themselves (Cancer.Net 2023). This is one of the reasons why a person must receive genetic counselling from a genetic counsellor or a competent mainstreamer before testing for Lynch syndrome is carried out, and will need to complete a consent form for the testing.

Somatic testing on removed endometrial or colorectal cancer tissue may also be performed. Patients need to understand that the tests performed will be looking for a somatic mutation, and that if such a mutation is found, it could inform their treatment options. However, it would not mean that Lynch syndrome is the cause and that the cancer is therefore due to an inherited gene mutation. Lynch syndrome can only be diagnosed if a germline mutation is identified (NHS England 2021).

Time Out 3

Consider how you could support a person diagnosed with Lynch syndrome to feel in control of their treatment and future. You may wish to consider:

  • Explaining the potential benefits of immunotherapy or adaptive surgery

  • Raising the person’s awareness of the importance of adopting healthy lifestyle behaviours

  • Signposting the person to appropriate organisations that could provide peer support

Explaining the potential benefits of immunotherapy or adaptive surgery

Raising the person’s awareness of the importance of adopting healthy lifestyle behaviours

Signposting the person to appropriate organisations that could provide peer support

Therapeutic and surveillance considerations

The rapid development of immunotherapy is transforming the options for managing patients with cancer and Lynch syndrome. For example, it is known that traditional fluorouracil (5FU) chemotherapy regimens are less effective if someone has a deficient MMR system, whether due to a somatic or a germline mutation (Chan and Chee 2019). Immunotherapy could provide a favourable alternative to 5FU chemotherapy in the future. NICE (2023) has approved immunotherapy with pembrolizumab for some advanced, recurrent or metastatic cancers for patients with a deficient MMR system, where it has been shown to be highly effective. In many cancers, such as lung and skin cancers, immunotherapy is now available as an adjuvant therapy based on the results of genetic testing – this is a form of personalised medicine (Cancer Research UK 2021). The story of Mo Haque, listed with link in the further resources, demonstrates how people’s lives can be saved through personalised medicine.

Genetic counselling and obtaining consent for patients who require genomic testing has traditionally been undertaken by clinical genetic services. However, in the author’s experience, long waiting lists often meant that patients received genomic test results after they had completed treatment for cancer. Early identification of patients who require genomic testing is now essential to ensure they are being offered the medicines that they are most likely to benefit from; for example, a deficiency in the enzyme dihydropyrimidine dehydrogenase can lead to a build-up of the chemotherapy drug 5FU in the body and cause more severe side effects than usual (Cancer Research UK 2023). As a consequence, it is becoming increasingly likely that patients with a cancer diagnosis will undergo genetic testing when they are under the care of cancer services. Therefore, it is essential that nurses are able to support patients through this period and understand the need for early testing, so they can access the most appropriate medicines.

Consideration also needs to be given to family members who are undergoing predictive testing after a person with cancer has been diagnosed with Lynch syndrome. Predictive testing is a type of genetic test used to determine whether an asymptomatic person has a gene mutation that may cause disease in the future. For every person diagnosed with Lynch syndrome through diagnostic testing, a further three family members will be diagnosed through predictive testing. These family members will need long-term surveillance and lifestyle changes to reduce the risk of cancer after being diagnosed with Lynch syndrome. Examples of such lifestyle changes can include weight loss, smoking cessation, reducing alcohol consumption and consuming resistant starch such as oats, rice, legumes and green bananas (Eve Appeal 2024). It should be noted that family members who test positive for Lynch syndrome mutations but have no cancer symptoms or diagnosis do not currently need to disclose the result of their predictive genetic test to life insurance companies (Genetic Alliance UK 2021).

Interventions that can reduce the risk of cancer in people diagnosed with Lynch syndrome may include (Edwards and Monahan 2022):

  • A colonoscopy every two years from the age of 25 years or 35 years (gene dependent) to detect any polyps or cancer at an early stage.

  • Adaptive surgery to reduce the risk of subsequent colorectal cancers.

  • Testing for Helicobacter pylori, since its eradication can reduce the risk of gastric cancer by 50%.

  • Aspirin daily for a minimum of two years, since this can reduce the risk of colorectal cancer by up to 50%.

  • Lifestyle changes such as the introduction of resistant starch to the diet.

  • Annual skin assessments (gene dependent) to detect skin lesions.

  • Prophylactic hysterectomy (surgical removal of the uterus and cervix) and/or oophorectomy (the surgical removal of one or both ovaries) (gene dependent) after the age of 40 years.

  • In vitro fertilisation with pre-implantation genetic testing, which involves creating an embryo in vitro and testing cells taken from that embryo for Lynch syndrome. Only embryos that have tested negative for the condition are then implanted into the womb.

Supporting patients and their families through genetic testing can enable them to engage in these interventions and therefore reduce their risk of developing certain cancers in the future.

Psychological aspects of care

The psychiatrist Elisabeth Kübler-Ross (1969) proposed that there are five stages of grief that people experience following a death: denial, anger, bargaining, depression and acceptance. It is widely accepted that many patients with cancer experience a similar range of emotions following their diagnosis (Madsen et al 2023). There is a misperception that these stages will always be sequential, but this is not generally the case. Instead, patients will often move back and forth between these stages – for example they may feel able to enjoy life one day but be highly distressed the next day – before eventually accepting their diagnosis and the loss of their previous ‘healthy’ life.

If a patient is advised that their cancer may be due to a cancer predisposition syndrome, such as Lynch syndrome, that they could have passed on to their children, the intensity and range of emotions they experience may increase. In addition, the patient will enter a period of uncertainty when awaiting germline test results, which may cause anxiety. Once the patient receives these results, they may find it challenging to accept them. If a gene mutation confirming a Lynch syndrome diagnosis has been found, the patient may experience guilt due to its implications for their family members. Alternatively, if a variant of unknown significance or no gene mutations are found, the patient may experience anxiety in relation to the ongoing uncertainty this presents.

Nurses should acknowledge the various emotions and lack of control that the patient may experience when diagnosed with Lynch syndrome. Nurses may be able to help the patient regain some sense of control by explaining that they are now equipped with knowledge that could assist in reducing the risk of developing certain cancers or enable these to be detected and treated early. For example, the NHS Bowel Cancer Screening programme offers a colonoscopy every two years to people diagnosed with Lynch syndrome (NHS England 2023b). This is also aligned with the goal of the NHS Long Term Plan to achieve earlier cancer diagnosis (NHS England 2019a, 2019b). However, patients and families should be made aware that a diagnosis of Lynch syndrome presents opportunities for prevention and early treatment, rather than providing guarantees of successful prevention and treatment.

Following a Lynch syndrome diagnosis, patients and families can be signposted to charities that provide specific information and support, for example Lynch Syndrome UK ( and The Eve Appeal (

Time Out 4

Watch the following video about Jamal, a patient who was diagnosed with Lynch syndrome: Discuss with a colleague how Jamal may have been affected by his diagnosis and how you could support him. Discussion points could include:

How Jamal might feel about his diagnosis, for example guilty or angry

Whether Jamal’s siblings or children should be tested

What surveillance advice could be given to Jamal

Skills for starting a genomic conversation

Initiating genomic conversations with patients may seem daunting for some cancer nurses, especially those new to the field. However, these conversations do not necessarily require the nurse to have an in-depth understanding of complex topics such as pharmacogenomics (how genes affect a person’s response to medicines), or for a full family history assessment to be completed. Novice nurses can facilitate and build on basic discussions; for example, when a patient asks if their family history of cancer explains why they have developed the condition, the nurse can introduce topics such as how genetics influence disease risk and prognosis. More experienced nurses may explain that doctors analyse genetic factors to guide treatment decisions and optimise patient outcomes.

Over time, nurses can develop genomic competencies, which will enable them to have more in-depth discussions with patients and families about genetic test results and their implications. While expert cancer nurses may take on responsibilities such as family history assessments and pharmacogenomic interpretations, all nurses can integrate genomic awareness into their routine patient interactions. With the appropriate knowledge and confidence, nurses at every level can have productive genomic conversations aligned with their skill set and scope of practice.

Genomic competencies for nurses

Competencies are a confirmation of proficiency that are based on theory and practice, and can support nurses to gain the knowledge and skills to start genomic conversations so that this becomes a familiar task that is embedded in the cancer nurse’s role. In addition, the Nursing and Midwifery Council (2014) states that nurses are ‘responsible and accountable for keeping their knowledge and skills up to date through continuing professional development’. Therefore, cancer nurses have a responsibility to support patients to understand the complexity of personalised healthcare.

Various competency frameworks have been developed in relation to genomics, such as the 2023 Genomic Competency Framework for UK Nurses (Genomics Education Programme 2023). Carpenter-Clawson et al (2023) and the faculty for the Master’s course Genomic and Counselling Skills for Nurses and Healthcare Professionals at the University of West of England developed 13 core genomic competencies for nurses following analysis of feedback from four cohorts of students in consecutive years. These core genetic competencies are shown in Box 2.

Box 2.

Core genomic competencies for nurses

  • Understanding of the basic scientific concepts of inheritance, genetics and genomics

  • Understanding of the difference between the germline and somatic genome and clinical implications associated with germline or somatic genetic variants

  • Understand what local genetic testing services are available and how to refer patients

  • Ability to carry out appropriate risk assessments to identify patients who might be at a higher risk of inherited conditions

  • Understand the wider roles and services offered by local clinical genetics teams

  • Conduct a comprehensive family history exercise to understand potential high-risk patients for inherited conditions

  • Understand the national genetic test directory and its potential relevance for your patients and practice

  • Understand the targeted therapies available for patients

  • Understand the broad mechanism of action of targeted therapies

  • Understand how genomic data can be used in the context of prevention and earlier diagnosis

  • Understand how genomic data can be used in the context of patient prognosis

  • Understanding how genomic data is analysed and the potential implications of the analysis process on the outcome of patient management

  • Understand the wider legal, social and ethical considerations of genetic testing for patients

(Carpenter-Clawson et al 2023)

Building on these 13 core competencies, a framework of competencies for nurses wishing to mainstream Lynch syndrome testing has also been developed. These competencies for facilitating germline genomic testing in Lynch syndrome are the first in a series that will cover all inherited cancer predisposition syndromes. They were designed to be transferable across the regions of the Genomic Medical Service Alliance (a network of seven centres established to embed genomics into patient care pathways and to deliver clinical care to patients receiving genomic testing), while also being specific and simple to achieve and acknowledging the differing service provision across England. The framework is available at:

Given the potential involvement of specialist nurses in offering the genetic counselling required before testing for Lynch syndrome, they need to be supported by education programmes aligned to their practice that increase their genomic literacy. The Clinical Pathway Initiative led by the Genomics Education Programme (2024b) aims to support the integration of genomic competencies into the education and training of the NHS workforce. Online training is also available via the RM Partners West London Cancer Alliance website (see further resources).

Time Out 5

Choose one of the core genomic competencies shown in Box 2 and write down three ways that this could be applied to your practice. You may also wish to discuss this with a colleague


Genomics is fast becoming integral to all patient care pathways and is a crucial aspect of contemporary nursing care. Therefore, nurses need to have the confidence and skills to start genomic conversations with patients. Such conversations may include providing psychological support to people with cancer predisposition syndromes such as Lynch syndrome, assisting patients to understand the complex decision-making associated with the advent of personalised medicine, and ensuring that patients receive appropriate management, surveillance and information. Nurses need to ensure they have sufficient knowledge of genomics to undertake their role in educating, supporting and advocating for patients effectively.

Time Out 6

Identify how supporting patients undergoing genomic testing applies to your practice and the requirements of your regulatory body

Time Out 7

Now that you have completed the article, reflect on your practice in this area and consider writing a reflective account:


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