Patients and Public
Welcome to the South East Genomics patient hub. The information provided here is intended for patients who use our services, people who live in the South East of England that may need to use our services in the future and anyone wanting to find out more about genomic testing in the NHS. Here you can learn about: genomics and genomic testing, the role of the NHS South East GLH and similar services, the 100,000 Genomes Project and more.
The video below explains what DNA is and how understanding the make-up of our DNA is essential for genetic and genomic testing.
Many of the differences in our DNA – known as variants – have no impact, but there are some that can affect our health. Variants may cause a genetic condition, such as sickle cell anaemia, or could influence our predisposition to develop a condition, such as breast cancer.
We can now sequence and analyse genomic information to inform healthcare. A person’s genomic information can sometimes be used to diagnose a condition, predict and prevent disease, and offer personalised treatment.
Most people have heard of genetics in relation to healthcare. Genetics is the study of genes and their roles in inheritance – the way certain traits or conditions are passed down in 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.
Genomics is an all-encompassing term that takes into account all the DNA in a person’s or organism’s genome – both the areas that code for proteins, genes, and those that do not, the non-coding regions. Genes account for just 1-5% of our complete set of genomic information, our genome. Genomics looks at how genes are expressed and the interplay between different genes.
Genetic testing involves the investigation of a single piece of genetic information for specific bits of DNA that have a known function. Through this, scientists can isolate the underlying causes of the specific genetic variant in question. Genomic testing involves the investigation of larger sections of genetic material and information. It’s scope is broader and without a specific target.
Your healthcare professional may order a genomic test for several different reasons:
Diagnostic testing – to confirm a diagnosis of a particular cancer or rare disease
- when you display relative symptoms – ‘clinical presentation’
- a yes/no test
- can be used to confirm an initial diagnosis or alternatively to rule out a possible cause of the symptoms.
Clinical predictive testing – to assess your risks of developing a genetic condition and to guide preventative care
- before you display any symptoms
- usually when a family member has been diagnosed with a genetic condition
- for a gene that is associated with a condition that is ‘actionable’ – it can be treated or the risk can be reduced with lifestyle changes and/or regular screening
- for a condition that is not actionable but is sufficiently severe that you may want to know about it before making major life decision (such as starting a family).
Pharmacogenetic testing – to test how your genome affects your response to medication. This can include whether a particular medicine will be effective or ineffective, and how likely the medicine is to cause particular side-effects.
Tumour testing – to identify gene mutations present in the tumour cells that are either actionable (meaning targeted treatment can be offered), or warrant further study. This involves comparing the genomes of a patient’s tumour cells with those of the patient’s healthy cells. This can also help in identifying genes that are actionable in other ways, e.g. identify new research targets such as genes that are seen to be ‘driving’ cancers to develop and spread.
Genomic testing usually requires samples of your blood, saliva or tissue. The DNA is extracted from these samples and sequenced at your local Genomic Laboratory Hub, where specific areas or all of your genome is then analysed.
Depending on what the test is for, results may take days, weeks or sometimes months to be reviewed, finalised and fed back to you. You may also be referred for genetic counselling depending on the results.
A full A-Z Genomics glossary can be found on the Genomics Education website, part of the Genomics Education Programme delivered by Health Education England.
We inherit half of our DNA from our biological mother and half from our biological father. There are different ways that genetic conditions can be inherited (passed down) in a family. Sometimes a child only needs to inherit one copy of a gene variant to have a condition or increased risk for a condition. This is known as dominant inheritance. Other conditions such as cystic fibrosis (CF) are recessive. If both parents carry a variant, there is a 25 out of 100 (25%) chance for a child to have CF. There are also other forms of inheritance such as X-linked. Sometimes the genetic variant is new in a child and is not present in either parent.
Genomic tests can help to understand what variants are present, and then the clinical and scientific teams work together to understand what the variant means for a person and their family.
We have entered into a Joint Controller Agreement with NHS England which provides a framework for ensuring we comply with data protection requirements when processing patients’ personal information.
Data that identifies patients directly is only available to the team providing care, outside of this it is de-indentified.
Please visit the NHS England website and our privacy and terms page for more information.
National Genomic Research Library
Why is the NGRL important?
The National Genomic Research Library is a secure national database of genomic and de-identified health data managed by Genomics England. By collecting this data from thousands of patients and storing it all in one place researchers are able to look for patterns that will help them better understand disease, which in turn can lead to new diagnoses and the development of new and better treatments. The more people that donate their data to the NGRL, the more accurate the research will be.
Why have I been asked to take part in the NGRL?
Either through your own care or through the care of a relative you may be offered a type of genomic testing through the NHS Genomic Medicine Service called whole genome sequencing. This means that all 3 billion letters of your genome will be ‘read’ to create a genetic sequence that is unique to you. While important to you and your care, your genome sequence is also very useful to researchers.
Why should I take part in the NGRL?
The National Genomic Research Library is very important for research and there are many reasons to take part, including:
- Your involvement in the NGRL is free and does not require you to donate additional samples
- Your involvement may help people with similar conditions to you
- Your involvement may provide you with an opportunity to participate in clinical trials
- Your involvement may aid research which will provide you or others with answers in the future
- Being part of a new national approach which brings together the NHS and health data to improve care for patients
The NGRL is not a study and you will not get a direct result, this will come through your genomic testing.
What happens if I choose to take part?
If you decide to take part in the National Genomic Research Library you will need to sign a very simple ‘Record of Discussion’ form to show you consent and your clinician will talk through the form with you. Once this is complete Genomics England will add your test and healthcare data to the NGRL where it will join the data of thousands of other participants.
Once your data is in the Library you may be contacted occasionally by your clinical team or Genomics England. This could be because:
- Something has been found which may be relevant to you or your family’s health
- You are eligible for a clinical trial or there is an opportunity to take part in a specific piece of research
- There is general news about the NGRL
- Additional or different samples are needed for an approved research project
The processes for re-contacting you will be jointly managed by the NHS and Genomics England. You will never be contacted for marketing purposes.
Taking part in the NGRL is completely voluntary and you can withdraw at any time if you change your mind. If you choose not to take part your care will not be affected and you will still receive the results from your genomic test.
Once taken your samples will be securely stored by the NHS in line with national and local policies.
In order to create the richest data set possible for research lots of data needs to be collected. By looking at health and genome data together researchers are able to develop a stronger understanding of how the variations in peoples’ genomes affects their health.
The following information will be available to researchers:
- Your clinical test data
- Electronic copies of all your records from the NHS, your GP and other organisations
- Information about any illnesses or hospital stays, even if you think it is not related to you or your family’s diagnosis
- Copies of hospital or clinic records, medical notes, social care and local or national disease registries
- Relevant images from your NHS records
Your records in the Library will continue to be updated throughout your life, including information added after your death, for as long as you consent. This will stop if you withdraw from the Library at any point. We need access to your data throughout your life because we need to know what happens to you next health-wise. For instance, if you had a serious illness, did you get better or not? If some people with that illness got better more quickly than other there may be clues in their genome as to why. This could lead to the development of better diagnosis and treatments for others.
Please visit the Genomics England website if you would like to know more about what data they hold about you.
The National Genomic Research Library must comply with laws and standards to protect your data. To ensure this Genomics England continuously reviews best practice for secure storage, uses industry-standard tools and techniques to prevent unauthorised access and regularly undergoes security tests.
When your data is added to the National Genomic Research Library it is de-identified so that no-one is able to link it back to you. De-identifying your data means that any ‘strong’ identifiers such as name, date of birth, address and NHS number are removed and replaced with a unique identifier that only Genomics England can use to re-identify you through your data. All patient data is stored in secure facilities in the UK.
Genomics England will keep personal data related to their research purposes for 30 years at which point it will be reviewed to see if keeping it longer is justified. If there is no justification for keeping it the data will be deleted in line with their secure destruction procedures.
For more information, including compliance with GDPR and common law duty of confidentiality please visit the Genomics England website.
Genomics England always protects and controls who has access to your genomic and health data in the National Genomic Research Library. Researchers that are given access to the Library do so under strict agreements and their access is reviewed by our Access Review Committee, which includes patient and participant representatives.
Those who apply and are approved access will be researchers who are trying to better understand diseases and how to treat them. Researchers may come from all over the world, pooling international data and research gives the best chance of new discoveries. Although your personal data is very important, researchers are not usually interested in an individual’s data. What’s important for them is the way that the data from thousands, or even hundreds of thousands of patients can be compared.
Approved researchers may work for not-for-profit organisations, such as research charities, universities or hospitals, and for-profit (commercial) companies such as drug or technology companies. The NHS does not develop or test medicines itself and has never done so. The NHS works in partnership with commercial companies to do this so that patients benefit as quickly as possible from new discoveries.
- Helping to find new treatments and possibly cures for a wide range of health conditions.
- Researchers might use the data in the National Genomic Research Library to try and find new, faster ways to analyse large amounts of data.
- Researchers may publish the results of their research in scientific journals. They may also present their results at scientific meetings. It is important for scientists and doctors to share results to help research advance as quickly as possible. You will not be identified when they do this.
- New drugs and diagnostic tests may be developed by the NHS, universities and companies across the world using this data.
- Researchers will be able to find opportunities for you, and others like you, to take part in clinical trials or other relevant research projects.
Research must be in line with the acceptable uses as detailed in the Research Ethics Committee approved Protocol.
- Genomics England will not allow access to any data for insurance purposes.
- Genomics England will not allow access to any data for marketing purposes.
- No speculative searches will be allowed by anybody. The Department of Health and Social Care has had confirmation from the Home Office and the Association of Chief Police Officers that they will not seek access to Genomics England’s data without presentation of a court order.
In cases where a patient is not able to consent for themselves whether or not they want to take part in the National Genomic Research Library someone else is able to do this on their behalf.
Child
As a parent or guardian you will need to decide on behalf of your child if you want them to take part. If you don’t want them to take part they won’t be included but if you do, at least one person with legal parental responsibility needs to complete the record of discussion form. If appropriate your child may be able to be involved in this decision by completing a young person’s assent form which will be provided by your healthcare team.
Consultee
If you have been asked to act as a consultee this means you are making a decision for an adult who is considered unable to decide for themselves due to lack of capacity. You should consider their likely views and interests and set aside your own personal views about participating in research. You will be asked to complete a consultee declaration form and this document provides more information about the responsibilities of the role.
Deceased relative
In some circumstances you may be asked for permission to collect a sample from a relative who has recently passed away. This may be to better understand your relative’s health conditions, for the benefit of other family members, or other patients with the same condition. As part of this you may be asked if data from a deceased relative can be included in the National Genomic Research Library.
NGRL FAQs
- Partial withdrawal
This option is for when you are content for your data to continue to be used for research but want no further contact. Genomics England will continue to update and store information from your health and other records for use in approved research but you will receive no further contact.
- Full withdrawal
This option is for when you no longer wish for your data to be used for research and want no further contact.
Genomics England will not:
- Contact you directly
- Continue to update and store information from your health records
- Allow new research access to information that is held about you or use your information for anything other than auditing
Genomics England cannot:
- Remove data from research already underway or that has already been completed
- Remove all records relating to you in their databases
Useful links
Further resources that you may find informative and/or supportive:
- NHS overview of Genetics
- Genetic Alliance UK charity
- Macmillan Cancer Support charity
- Genomics England YouTube channel
- NHS Digital and keeping patient data safe
- Case studies of how patient data can be used to provide better care and improve health (Understanding Patient Data)
- UK government ‘Code on Genetic Testing and Insurance’
Contacts
To contact Genomics England for further questions about the NGRL:
- Email – ge-servicedesk@genomicsengland.co.uk
- Phone – 0808 2819 535 (09:00–17:30, Monday to Friday)
For concerns or complaints around the use of your data:
- Genomics England Data Protection Officer – dataprotection@genomicsengland.co.uk
- UK Information Commissioner – https://ico.org.uk/global/contact-us/ or call the helpline on 0303 123 1113 (09:00–17:00, Monday to Friday)
100,000 Genomes Project
In late 2012 then Prime Minister David Cameron announced the 100,000 Genomes Project. The plan was to sequence 100,000 whole genomes from NHS patients with the aim of providing them with a diagnosis or a better treatment. This was something that had never been attempted anywhere in the world.
The Project focused on patients with a rare disease and their families and patients with cancer. Recruitment was completed in 2018 with the 100,000th genome sequenced in December 2018. In the end the Project exceeded expectations by sequencing more than 100,000 genomes.
The legacy of the 100,000 Genomes Project is the new NHS Genomic Medicine Service. By building on the skills and lessons learnt from the 100,000 Genomes Project whole genome sequencing will be available to a much wider range of patients through the NHS.
Families with a rare disease
recruited in our region
Cancer patients recruited
in our region
Rare Disease and Cancer results
reported back to clinicians
Participants of the 100,000 Genomes Project are able to track their sample online using the Genomics England “Track My Sample” service. However, please note that once sequencing and the initial analysis at Genomics England has been completed, the results still need to be confirmed back at their GMC and reported to the healthcare professional who referred you to the project. Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back.
Your referring healthcare professional (such as your GP or specialist) will let you know when they have received the report. You will be contacted about your test results just as you would be for any other test results – usually by letter or phone.
If you require any further information or help, please contact the South London GMC project team: genetics100k@gstt.nhs.uk
A main finding is one relevant to the condition that led someone to join the Project. These findings are changes, or variants, in a person’s genomic sequence. The changes could be relevant to the
- explanation
- diagnosis or
- treatment of a person’s rare disease or cancer.
Main findings can also be called ‘pertinent’ or primary findings. Any main findings will be fed back to the NHS clinical team to confirm the result. The referring health professional will then give the results to the participant.
According to Genomics England, an estimated quarter of participants with a rare disease could receive a diagnosis in their results, and approximately half of participants with cancer are projected to receive information that could open up possibilities for clinical trials or targeted therapies.
This also means for many participants, no clear answer will be found at first. Your clinical team will tell you if nothing has been found. This is just the initial analysis though. Your data will also go into a research database. As our knowledge grows, researchers will continue to analyse your data. We will let your clinical team know if we find anything in the future that could be important for your, or your family’s, health.
Further information for 100,000 Genomes Participants can be found on the Genomics England website where they have a dedicated section on the project, including FAQs and information about participant data.
We are sorry for the significant delay in receiving your 100,000 Genomes Project results. We are aware that many families have waited much longer than the expected 18-24 months to receive results. We are sorry that we have not been able to keep all families up to date with the delay. Every family is important to us and we are working hard to try and get your results to you as quickly as possible. The primary findings have been prioritised to ensure every family receives their main results as soon as possible.
When you donated your samples to the Project they were sent to Genomics England for sequencing and analysis before being returned to us here at the South London GMC for further analysis and reporting. For more information on all the stages that your family’s samples go through from recruitment to report, please visit this link to Genomics England’s ‘results journey’ process: www.genomicsengland.co.uk/information-for-participants/results-the-journey/
Participants can decide if we should look for ‘additional findings’ in their genome. These are not related to the cancer or rare disease that led them to take part. We only look for these changes if a participant wants us to.
These are genomic changes that are known to cause serious, life threatening conditions. The changes we look for are in certain genes, and they may cause an increased risk of certain genetic diseases. These diseases can often can be prevented or reduced by NHS treatment. These conditions are quite rare. We expect that about 1 in 100 people who take part will have one of these conditions.
The list of additional findings we look for will change over time. This is because new evidence becomes available about the role of the genes in disease. We only feedback information where there is strong scientific evidence that the changes can cause a disease.
Participants can change their mind about whether they want to receive these additional findings at any time.
For more information on the genes looked for as part of additional findings and to check whether or not you agreed to receive this information please visit the Genomics England website.
Any participant who was initially consented to the project below the age of 16, will be contacted once they turn 16 to confirm whether they would like to remain in the project or not. If the patient would like to continue on the project as an adult, a consent conversation would need to take place again to sign a new consent form. This can be done either by telephone or via a clinic appointment.
Any participants that do not have capacity to sign for themselves, a consultee/parent will be able to make this decision and sign the form on their behalf.
Withdrawal forms:
- Withdrawal information and form – for adult or child participants (6a)
- Consultee declaration of advice regarding adult participant withdrawal information – for consultees (withdrawal) (6b)
Opting in/out forms for additional findings:
Further information on the 100,000 Genomes Project can be found on the Genomics England website.
If you have any queries about the Project please feel free to contact the South London GMC project team via email at Genetics100k@gstt.nhs.uk.
Resources for patients
Genomic Research
When your clinician discusses genomic testing as part of your care, you will also be asked if you want to donate your sample, genome sequence and health data for research. If you agree to take part, your samples will be stored securely and your data will be added to the National Genomic Research Library – a secure national database of de-identified genomic and health data managed by Genomics England.
Approved researchers can use the samples and data to study diseases and look for new treatments. Their research might help you and others now or in the future.
Whole Genome Sequencing (WGS)
Media resources
The G Word: Genomics England Podcasts
Genomics is coming into the mainstream of healthcare and we all need to be talking more about it. There’s a lot of information out there but not all of it is accessible, this podcast aims to answer your questions and debunk the myths. Genomics England CEO Chris Wigley speaks to world-leading experts about all things genomics, new episodes released weekly.RARECAST: The Global Genes Podcasts
Episode 43 “Cracking the genetics of rare diseases through crowdsourcing” – Hear about how Genomics England is calling on experts around the world to help in the diagnosis of rare diseases. Episode 62 “Unlocking the genetic mysteries of rare diseases” – Listen to an interview with the director of the US National Institutes of Health’s Center for Mendelian Genomics to find out why funding for genome sequencing is significant for understanding rare diseases. Episode 105 “Helping patients with the same undiagnosed genetic condition find each other” – Listen to find out more about the importance of patients with undiagnosed rare diseases being able to find each other. Episode 275 “Targeting the regulatory genome to treat rate blood diseases” – Listen to find out more about Sickle Cell disease, Beta Thalassaemia and other genetic blood diseases. The host talks with Syros Pharmaceuticals Chief Medical Officer to find out more about their research into treating these conditions by targeting the genome.The Power of Two (2011)
A story of twin sisters, two cultures, and two new chances at life. Inspired by their 2007 memoir, “The Power Of Two” offers an intimate portrayal of the bond between half-Japanese twin sisters Anabel Stenzel and Isabel Stenzel Byrnes, their battle with the fatal genetic disease cystic fibrosis (CF) and miraculous survival through double lung transplants. Defying all odds, Ana and Isa have emerged as authors, athletes and global advocates for organ donation, and their connection to the CF and transplant communities provides rare insight into the struggles — and overlooked joys — of chronic illness.
Pink & Blue: Colors of Hereditary Cancer (2015)
This short documentary takes us through the lives of women and men who have the BRCA 1 and 2 genetic mutations and and how these mutations put both women and men at risk for developing numerous cancers. The trailer is available to watch on Vimeo.
Other websites for information and support
NHS guide on genetic and genomic testing, including information on testing, results, insurance and data.
Information and emotional, physical and financial support for anyone living with cancer.
For information about the basics of genetics and inheritance of genetic conditions, research, different types of genetic testing and more.
A charity supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder.
A dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.
100,000 Genomes Project resources
How can you get involved?
Why should you get involved?
If you live in South London, Kent, Surrey or Sussex you are one of our patients. Even if you don’t currently use our services, you or your family may need to in the future. By getting involved you can tell us what you think of the services we provide and use your experience and skills to help us improve what we are doing.
Why is Patient and Public Involvement important to us?
We care about the communities we serve and want to be providing the best services we can, meeting everyone’s needs. To ensure that we are able to do this, and to make sure the patient perspective is always at the centre of what we do, we are committed to involving patients and the public at every step. We have set up a number of ways for patients and members of the public to be involved and to have a say in the implementation of our services.
There are several ways that patients, family members and the public can get involved with the South East Genomic service. These include:
- Sending us your feedback
- Becoming one of our Genomic Patient and Public Ambassadors
Who are Genomic Patient and Public Ambassadors?
Genomic Patient and Public Ambassadors are volunteers who are enthusiastic about genetics and genomics. They may have previously been involved in the 100,000 Genomes Project, be a previous or current patient, or a carer or member of the public. People from all backgrounds and all abilities are welcome.
Genomic Patient and Public Ambassadors play a leading role in working with the GLH and GMSA leads to help ensure patient and public involvement is embedded in the planning and delivery of the new genomic service.
No previous experience is necessary, we just ask that you are able to commit to a small number of hours per month. Our team meets quarterly and there may be activities for our Ambassadors to complete between meetings.
What can Genomic Patient and Public Ambassadors do?
Genomic Patient and Public Ambassadors work together to actively shape their own work and responsibilities so you can decide how best to contribute your skills and experience.
Due to our vast geographical region much of the work will take place online, but provisions will be made for those who are unable (for whatever reason) to use digital means of communication.
Here are some of the activities Genomic Patient and Public Ambassadors can be involved with:
- Reviewing patient documents e.g. public surveys and the South East Genomics website to provide feedback and collaborate on producing plain English summaries
- Identifying gaps in awareness of Genomics within the local population
- Planning public engagement events including contributing to the agenda
- Producing materials to be used for communications with patients and the public via our website and other channels
How can I become a Genomic Patient and Public Ambassador?
If you are interested in becoming a Genomic Patient and Public Ambassador please read our role description. If you would like to find out more information then please contact us.
In your message, it would be great if you could briefly outline why you are interested in this role. Don’t forget to include your name and contact details!
Research studies and trials
Why is research important?
Public participation in research helps provide valuable knowledge to support people live healthier and better lives now and in the future. Through medical research we can:
- diagnose diseases earlier or more accurately
- provide life-changing treatments
- prevent people from developing conditions
- improve health and care for generations to come
- ensure everyone has a better quality of life
Every minute in the UK, someone is diagnosed with a disease or a condition. The treatment and support they will receive will, at some point, have been informed by research.
Why should I get involved?
You might want to get involved in research to:
- learn more about a condition that affects you
- make a difference, by helping to improve treatments and quality of life, now and for future generations
- support medical research for a particular condition or disease that you care about
- access new treatments
- take an active role in your own care.
Current open studies and trials
South East GLH staff across the region support and lead on research in a diverse range of clinical areas, taking the best new ideas from cutting-edge science to create new tests and treatments that benefit patients. You can find out more about current research we are involved in by following the links below:
Research FAQs
Depending on the study you join, your level of involvement could be quite different. It could be as simple as donating a small blood sample, answering surveys or it could involve having multiple appointments with clinicians to monitor your progress. Whatever the level of involvement required for the study, this will always be explained to you at the beginning so you know what is expected of you before deciding if you want to take part.
Anyone who is interested can take part in research. Each study will have its own inclusion and exclusion criteria so some studies are only open to people with specific conditions. However some studies will be looking for “healthy volunteers” to be used as a comparison to patients with a condition. Look at the eligibility criteria for studies you are interested in or speak to the clinical research team to see if you meet the requirements to participate
Before a study can start recruitment, it is reviewed by the Health Research Authority (HRA) and an independent research ethics committee to make sure it is safe, ethical and of high quality. All research studies are voluntary so you don’t have to take part if you don’t want to and you also have the option to withdraw from a study at any time without it affecting your care. If you have any concerns about joining a study you can speak to the research team or the person responsible for your recruitment and they will be able to answer any questions you have.
No, you will usually be given time to decide whether you want to take part. You will be provided with information about the study which you can take away with you to look at in more detail and discuss with your friends, family and doctor.
Informed consent means you have been given complete information about the study, including the risks and benefits, before deciding if you want to take part. You will need to sign a consent form when you join a study agreeing that this information was given to you and that you understood it.
In most cases research studies are voluntary. You may be reimbursed for things such as travel expenses and the research team will be able to explain to you in more detail about the availability of this.
Further resources
Websites that may be helpful in making informed choices about taking part in research and highlight other trials that you may be interested in:
The South London Clinical Research Network
Welcome to the South East Genomics patient hub. The information provided here is intended for patients who use our services, people who live in the South East of England that may need to use our services in the future and anyone wanting to find out more about genomic testing in the NHS. Here you can learn about: genomics and genomic testing, the role of the NHS South East GLH and similar services, the 100,000 Genomes Project and more.
The video below explains what DNA is and how understanding the make-up of our DNA is essential for genetic and genomic testing.
Many of the differences in our DNA – known as variants – have no impact, but there are some that can affect our health. Variants may cause a genetic condition, such as sickle cell anaemia, or could influence our predisposition to develop a condition, such as breast cancer.
We can now sequence and analyse genomic information to inform healthcare. A person’s genomic information can sometimes be used to diagnose a condition, predict and prevent disease, and offer personalised treatment.
Most people have heard of genetics in relation to healthcare. Genetics is the study of genes and their roles in inheritance – the way certain traits or conditions are passed down in 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.
Genomics is an all-encompassing term that takes into account all the DNA in a person’s or organism’s genome – both the areas that code for proteins, genes, and those that do not, the non-coding regions. Genes account for just 1-5% of our complete set of genomic information, our genome. Genomics looks at how genes are expressed and the interplay between different genes.
Genetic testing involves the investigation of a single piece of genetic information for specific bits of DNA that have a known function. Through this, scientists can isolate the underlying causes of the specific genetic variant in question. Genomic testing involves the investigation of larger sections of genetic material and information. It’s scope is broader and without a specific target.
Your healthcare professional may order a genomic test for several different reasons:
Diagnostic testing – to confirm a diagnosis of a particular cancer or rare disease
- when you display relative symptoms – ‘clinical presentation’
- a yes/no test
- can be used to confirm an initial diagnosis or alternatively to rule out a possible cause of the symptoms.
Clinical predictive testing – to assess your risks of developing a genetic condition and to guide preventative care
- before you display any symptoms
- usually when a family member has been diagnosed with a genetic condition
- for a gene that is associated with a condition that is ‘actionable’ – it can be treated or the risk can be reduced with lifestyle changes and/or regular screening
- for a condition that is not actionable but is sufficiently severe that you may want to know about it before making major life decision (such as starting a family).
Pharmacogenetic testing – to test how your genome affects your response to medication. This can include whether a particular medicine will be effective or ineffective, and how likely the medicine is to cause particular side-effects.
Tumour testing – to identify gene mutations present in the tumour cells that are either actionable (meaning targeted treatment can be offered), or warrant further study. This involves comparing the genomes of a patient’s tumour cells with those of the patient’s healthy cells. This can also help in identifying genes that are actionable in other ways, e.g. identify new research targets such as genes that are seen to be ‘driving’ cancers to develop and spread.
Genomic testing usually requires samples of your blood, saliva or tissue. The DNA is extracted from these samples and sequenced at your local Genomic Laboratory Hub, where specific areas or all of your genome is then analysed.
Depending on what the test is for, results may take days, weeks or sometimes months to be reviewed, finalised and fed back to you. You may also be referred for genetic counselling depending on the results.
A full A-Z Genomics glossary can be found on the Genomics Education website, part of the Genomics Education Programme delivered by Health Education England.
We inherit half of our DNA from our biological mother and half from our biological father. There are different ways that genetic conditions can be inherited (passed down) in a family. Sometimes a child only needs to inherit one copy of a gene variant to have a condition or increased risk for a condition. This is known as dominant inheritance. Other conditions such as cystic fibrosis (CF) are recessive. If both parents carry a variant, there is a 25 out of 100 (25%) chance for a child to have CF. There are also other forms of inheritance such as X-linked. Sometimes the genetic variant is new in a child and is not present in either parent.
Genomic tests can help to understand what variants are present, and then the clinical and scientific teams work together to understand what the variant means for a person and their family.
We have entered into a Joint Controller Agreement with NHS England which provides a framework for ensuring we comply with data protection requirements when processing patients’ personal information.
Data that identifies patients directly is only available to the team providing care, outside of this it is de-indentified.
Please visit the NHS England website and our privacy and terms page for more information.
National Genomic Research Library
Why is the NGRL important?
The National Genomic Research Library is a secure national database of genomic and de-identified health data managed by Genomics England. By collecting this data from thousands of patients and storing it all in one place researchers are able to look for patterns that will help them better understand disease, which in turn can lead to new diagnoses and the development of new and better treatments. The more people that donate their data to the NGRL, the more accurate the research will be.
Why have I been asked to take part in the NGRL?
Either through your own care or through the care of a relative you may be offered a type of genomic testing through the NHS Genomic Medicine Service called whole genome sequencing. This means that all 3 billion letters of your genome will be ‘read’ to create a genetic sequence that is unique to you. While important to you and your care, your genome sequence is also very useful to researchers.
Why should I take part in the NGRL?
The National Genomic Research Library is very important for research and there are many reasons to take part, including:
- Your involvement in the NGRL is free and does not require you to donate additional samples
- Your involvement may help people with similar conditions to you
- Your involvement may provide you with an opportunity to participate in clinical trials
- Your involvement may aid research which will provide you or others with answers in the future
- Being part of a new national approach which brings together the NHS and health data to improve care for patients
The NGRL is not a study and you will not get a direct result, this will come through your genomic testing.
What happens if I choose to take part?
If you decide to take part in the National Genomic Research Library you will need to sign a very simple ‘Record of Discussion’ form to show you consent and your clinician will talk through the form with you. Once this is complete Genomics England will add your test and healthcare data to the NGRL where it will join the data of thousands of other participants.
Once your data is in the Library you may be contacted occasionally by your clinical team or Genomics England. This could be because:
- Something has been found which may be relevant to you or your family’s health
- You are eligible for a clinical trial or there is an opportunity to take part in a specific piece of research
- There is general news about the NGRL
- Additional or different samples are needed for an approved research project
The processes for re-contacting you will be jointly managed by the NHS and Genomics England. You will never be contacted for marketing purposes.
Taking part in the NGRL is completely voluntary and you can withdraw at any time if you change your mind. If you choose not to take part your care will not be affected and you will still receive the results from your genomic test.
Once taken your samples will be securely stored by the NHS in line with national and local policies.
In order to create the richest data set possible for research lots of data needs to be collected. By looking at health and genome data together researchers are able to develop a stronger understanding of how the variations in peoples’ genomes affects their health.
The following information will be available to researchers:
- Your clinical test data
- Electronic copies of all your records from the NHS, your GP and other organisations
- Information about any illnesses or hospital stays, even if you think it is not related to you or your family’s diagnosis
- Copies of hospital or clinic records, medical notes, social care and local or national disease registries
- Relevant images from your NHS records
Your records in the Library will continue to be updated throughout your life, including information added after your death, for as long as you consent. This will stop if you withdraw from the Library at any point. We need access to your data throughout your life because we need to know what happens to you next health-wise. For instance, if you had a serious illness, did you get better or not? If some people with that illness got better more quickly than other there may be clues in their genome as to why. This could lead to the development of better diagnosis and treatments for others.
Please visit the Genomics England website if you would like to know more about what data they hold about you.
The National Genomic Research Library must comply with laws and standards to protect your data. To ensure this Genomics England continuously reviews best practice for secure storage, uses industry-standard tools and techniques to prevent unauthorised access and regularly undergoes security tests.
When your data is added to the National Genomic Research Library it is de-identified so that no-one is able to link it back to you. De-identifying your data means that any ‘strong’ identifiers such as name, date of birth, address and NHS number are removed and replaced with a unique identifier that only Genomics England can use to re-identify you through your data. All patient data is stored in secure facilities in the UK.
Genomics England will keep personal data related to their research purposes for 30 years at which point it will be reviewed to see if keeping it longer is justified. If there is no justification for keeping it the data will be deleted in line with their secure destruction procedures.
For more information, including compliance with GDPR and common law duty of confidentiality please visit the Genomics England website.
Genomics England always protects and controls who has access to your genomic and health data in the National Genomic Research Library. Researchers that are given access to the Library do so under strict agreements and their access is reviewed by our Access Review Committee, which includes patient and participant representatives.
Those who apply and are approved access will be researchers who are trying to better understand diseases and how to treat them. Researchers may come from all over the world, pooling international data and research gives the best chance of new discoveries. Although your personal data is very important, researchers are not usually interested in an individual’s data. What’s important for them is the way that the data from thousands, or even hundreds of thousands of patients can be compared.
Approved researchers may work for not-for-profit organisations, such as research charities, universities or hospitals, and for-profit (commercial) companies such as drug or technology companies. The NHS does not develop or test medicines itself and has never done so. The NHS works in partnership with commercial companies to do this so that patients benefit as quickly as possible from new discoveries.
- Helping to find new treatments and possibly cures for a wide range of health conditions.
- Researchers might use the data in the National Genomic Research Library to try and find new, faster ways to analyse large amounts of data.
- Researchers may publish the results of their research in scientific journals. They may also present their results at scientific meetings. It is important for scientists and doctors to share results to help research advance as quickly as possible. You will not be identified when they do this.
- New drugs and diagnostic tests may be developed by the NHS, universities and companies across the world using this data.
- Researchers will be able to find opportunities for you, and others like you, to take part in clinical trials or other relevant research projects.
Research must be in line with the acceptable uses as detailed in the Research Ethics Committee approved Protocol.
- Genomics England will not allow access to any data for insurance purposes.
- Genomics England will not allow access to any data for marketing purposes.
- No speculative searches will be allowed by anybody. The Department of Health and Social Care has had confirmation from the Home Office and the Association of Chief Police Officers that they will not seek access to Genomics England’s data without presentation of a court order.
In cases where a patient is not able to consent for themselves whether or not they want to take part in the National Genomic Research Library someone else is able to do this on their behalf.
Child
As a parent or guardian you will need to decide on behalf of your child if you want them to take part. If you don’t want them to take part they won’t be included but if you do, at least one person with legal parental responsibility needs to complete the record of discussion form. If appropriate your child may be able to be involved in this decision by completing a young person’s assent form which will be provided by your healthcare team.
Consultee
If you have been asked to act as a consultee this means you are making a decision for an adult who is considered unable to decide for themselves due to lack of capacity. You should consider their likely views and interests and set aside your own personal views about participating in research. You will be asked to complete a consultee declaration form and this document provides more information about the responsibilities of the role.
Deceased relative
In some circumstances you may be asked for permission to collect a sample from a relative who has recently passed away. This may be to better understand your relative’s health conditions, for the benefit of other family members, or other patients with the same condition. As part of this you may be asked if data from a deceased relative can be included in the National Genomic Research Library.
NGRL FAQs
- Partial withdrawal
This option is for when you are content for your data to continue to be used for research but want no further contact. Genomics England will continue to update and store information from your health and other records for use in approved research but you will receive no further contact.
- Full withdrawal
This option is for when you no longer wish for your data to be used for research and want no further contact.
Genomics England will not:
- Contact you directly
- Continue to update and store information from your health records
- Allow new research access to information that is held about you or use your information for anything other than auditing
Genomics England cannot:
- Remove data from research already underway or that has already been completed
- Remove all records relating to you in their databases
Useful links
Further resources that you may find informative and/or supportive:
- NHS overview of Genetics
- Genetic Alliance UK charity
- Macmillan Cancer Support charity
- Genomics England YouTube channel
- NHS Digital and keeping patient data safe
- Case studies of how patient data can be used to provide better care and improve health (Understanding Patient Data)
- UK government ‘Code on Genetic Testing and Insurance’
Contacts
To contact Genomics England for further questions about the NGRL:
- Email – ge-servicedesk@genomicsengland.co.uk
- Phone – 0808 2819 535 (09:00–17:30, Monday to Friday)
For concerns or complaints around the use of your data:
- Genomics England Data Protection Officer – dataprotection@genomicsengland.co.uk
- UK Information Commissioner – https://ico.org.uk/global/contact-us/ or call the helpline on 0303 123 1113 (09:00–17:00, Monday to Friday)
100,000 Genomes Project
In late 2012 then Prime Minister David Cameron announced the 100,000 Genomes Project. The plan was to sequence 100,000 whole genomes from NHS patients with the aim of providing them with a diagnosis or a better treatment. This was something that had never been attempted anywhere in the world.
The Project focused on patients with a rare disease and their families and patients with cancer. Recruitment was completed in 2018 with the 100,000th genome sequenced in December 2018. In the end the Project exceeded expectations by sequencing more than 100,000 genomes.
The legacy of the 100,000 Genomes Project is the new NHS Genomic Medicine Service. By building on the skills and lessons learnt from the 100,000 Genomes Project whole genome sequencing will be available to a much wider range of patients through the NHS.
Families with a rare disease
recruited in our region
Cancer patients recruited
in our region
Rare Disease and Cancer results
reported back to clinicians
Participants of the 100,000 Genomes Project are able to track their sample online using the Genomics England “Track My Sample” service. However, please note that once sequencing and the initial analysis at Genomics England has been completed, the results still need to be confirmed back at their GMC and reported to the healthcare professional who referred you to the project. Neither Genomics England nor the hospital where you took part will be able tell you exactly when your results will be back.
Your referring healthcare professional (such as your GP or specialist) will let you know when they have received the report. You will be contacted about your test results just as you would be for any other test results – usually by letter or phone.
If you require any further information or help, please contact the South London GMC project team: genetics100k@gstt.nhs.uk
A main finding is one relevant to the condition that led someone to join the Project. These findings are changes, or variants, in a person’s genomic sequence. The changes could be relevant to the
- explanation
- diagnosis or
- treatment of a person’s rare disease or cancer.
Main findings can also be called ‘pertinent’ or primary findings. Any main findings will be fed back to the NHS clinical team to confirm the result. The referring health professional will then give the results to the participant.
According to Genomics England, an estimated quarter of participants with a rare disease could receive a diagnosis in their results, and approximately half of participants with cancer are projected to receive information that could open up possibilities for clinical trials or targeted therapies.
This also means for many participants, no clear answer will be found at first. Your clinical team will tell you if nothing has been found. This is just the initial analysis though. Your data will also go into a research database. As our knowledge grows, researchers will continue to analyse your data. We will let your clinical team know if we find anything in the future that could be important for your, or your family’s, health.
Further information for 100,000 Genomes Participants can be found on the Genomics England website where they have a dedicated section on the project, including FAQs and information about participant data.
We are sorry for the significant delay in receiving your 100,000 Genomes Project results. We are aware that many families have waited much longer than the expected 18-24 months to receive results. We are sorry that we have not been able to keep all families up to date with the delay. Every family is important to us and we are working hard to try and get your results to you as quickly as possible. The primary findings have been prioritised to ensure every family receives their main results as soon as possible.
When you donated your samples to the Project they were sent to Genomics England for sequencing and analysis before being returned to us here at the South London GMC for further analysis and reporting. For more information on all the stages that your family’s samples go through from recruitment to report, please visit this link to Genomics England’s ‘results journey’ process: www.genomicsengland.co.uk/information-for-participants/results-the-journey/
Participants can decide if we should look for ‘additional findings’ in their genome. These are not related to the cancer or rare disease that led them to take part. We only look for these changes if a participant wants us to.
These are genomic changes that are known to cause serious, life threatening conditions. The changes we look for are in certain genes, and they may cause an increased risk of certain genetic diseases. These diseases can often can be prevented or reduced by NHS treatment. These conditions are quite rare. We expect that about 1 in 100 people who take part will have one of these conditions.
The list of additional findings we look for will change over time. This is because new evidence becomes available about the role of the genes in disease. We only feedback information where there is strong scientific evidence that the changes can cause a disease.
Participants can change their mind about whether they want to receive these additional findings at any time.
For more information on the genes looked for as part of additional findings and to check whether or not you agreed to receive this information please visit the Genomics England website.
Any participant who was initially consented to the project below the age of 16, will be contacted once they turn 16 to confirm whether they would like to remain in the project or not. If the patient would like to continue on the project as an adult, a consent conversation would need to take place again to sign a new consent form. This can be done either by telephone or via a clinic appointment.
Any participants that do not have capacity to sign for themselves, a consultee/parent will be able to make this decision and sign the form on their behalf.
Withdrawal forms:
- Withdrawal information and form – for adult or child participants (6a)
- Consultee declaration of advice regarding adult participant withdrawal information – for consultees (withdrawal) (6b)
Opting in/out forms for additional findings:
Further information on the 100,000 Genomes Project can be found on the Genomics England website.
If you have any queries about the Project please feel free to contact the South London GMC project team via email at Genetics100k@gstt.nhs.uk.
Resources for patients
Genomic Research
When your clinician discusses genomic testing as part of your care, you will also be asked if you want to donate your sample, genome sequence and health data for research. If you agree to take part, your samples will be stored securely and your data will be added to the National Genomic Research Library – a secure national database of de-identified genomic and health data managed by Genomics England.
Approved researchers can use the samples and data to study diseases and look for new treatments. Their research might help you and others now or in the future.
Whole Genome Sequencing (WGS)
Media resources
The G Word: Genomics England Podcasts
Genomics is coming into the mainstream of healthcare and we all need to be talking more about it. There’s a lot of information out there but not all of it is accessible, this podcast aims to answer your questions and debunk the myths. Genomics England CEO Chris Wigley speaks to world-leading experts about all things genomics, new episodes released weekly.RARECAST: The Global Genes Podcasts
Episode 43 “Cracking the genetics of rare diseases through crowdsourcing” – Hear about how Genomics England is calling on experts around the world to help in the diagnosis of rare diseases. Episode 62 “Unlocking the genetic mysteries of rare diseases” – Listen to an interview with the director of the US National Institutes of Health’s Center for Mendelian Genomics to find out why funding for genome sequencing is significant for understanding rare diseases. Episode 105 “Helping patients with the same undiagnosed genetic condition find each other” – Listen to find out more about the importance of patients with undiagnosed rare diseases being able to find each other. Episode 275 “Targeting the regulatory genome to treat rate blood diseases” – Listen to find out more about Sickle Cell disease, Beta Thalassaemia and other genetic blood diseases. The host talks with Syros Pharmaceuticals Chief Medical Officer to find out more about their research into treating these conditions by targeting the genome.The Power of Two (2011)
A story of twin sisters, two cultures, and two new chances at life. Inspired by their 2007 memoir, “The Power Of Two” offers an intimate portrayal of the bond between half-Japanese twin sisters Anabel Stenzel and Isabel Stenzel Byrnes, their battle with the fatal genetic disease cystic fibrosis (CF) and miraculous survival through double lung transplants. Defying all odds, Ana and Isa have emerged as authors, athletes and global advocates for organ donation, and their connection to the CF and transplant communities provides rare insight into the struggles — and overlooked joys — of chronic illness.
Pink & Blue: Colors of Hereditary Cancer (2015)
This short documentary takes us through the lives of women and men who have the BRCA 1 and 2 genetic mutations and and how these mutations put both women and men at risk for developing numerous cancers. The trailer is available to watch on Vimeo.
Other websites for information and support
NHS guide on genetic and genomic testing, including information on testing, results, insurance and data.
Information and emotional, physical and financial support for anyone living with cancer.
For information about the basics of genetics and inheritance of genetic conditions, research, different types of genetic testing and more.
A charity supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder.
A dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.
100,000 Genomes Project resources
How can you get involved?
Why should you get involved?
If you live in South London, Kent, Surrey or Sussex you are one of our patients. Even if you don’t currently use our services, you or your family may need to in the future. By getting involved you can tell us what you think of the services we provide and use your experience and skills to help us improve what we are doing.
Why is Patient and Public Involvement important to us?
We care about the communities we serve and want to be providing the best services we can, meeting everyone’s needs. To ensure that we are able to do this, and to make sure the patient perspective is always at the centre of what we do, we are committed to involving patients and the public at every step. We have set up a number of ways for patients and members of the public to be involved and to have a say in the implementation of our services.
There are several ways that patients, family members and the public can get involved with the South East Genomic service. These include:
- Sending us your feedback
- Becoming one of our Genomic Patient and Public Ambassadors
Who are Genomic Patient and Public Ambassadors?
Genomic Patient and Public Ambassadors are volunteers who are enthusiastic about genetics and genomics. They may have previously been involved in the 100,000 Genomes Project, be a previous or current patient, or a carer or member of the public. People from all backgrounds and all abilities are welcome.
Genomic Patient and Public Ambassadors play a leading role in working with the GLH and GMSA leads to help ensure patient and public involvement is embedded in the planning and delivery of the new genomic service.
No previous experience is necessary, we just ask that you are able to commit to a small number of hours per month. Our team meets quarterly and there may be activities for our Ambassadors to complete between meetings.
What can Genomic Patient and Public Ambassadors do?
Genomic Patient and Public Ambassadors work together to actively shape their own work and responsibilities so you can decide how best to contribute your skills and experience.
Due to our vast geographical region much of the work will take place online, but provisions will be made for those who are unable (for whatever reason) to use digital means of communication.
Here are some of the activities Genomic Patient and Public Ambassadors can be involved with:
- Reviewing patient documents e.g. public surveys and the South East Genomics website to provide feedback and collaborate on producing plain English summaries
- Identifying gaps in awareness of Genomics within the local population
- Planning public engagement events including contributing to the agenda
- Producing materials to be used for communications with patients and the public via our website and other channels
How can I become a Genomic Patient and Public Ambassador?
If you are interested in becoming a Genomic Patient and Public Ambassador please read our role description. If you would like to find out more information then please contact us.
In your message, it would be great if you could briefly outline why you are interested in this role. Don’t forget to include your name and contact details!
Research studies and trials
Why is research important?
Public participation in research helps provide valuable knowledge to support people live healthier and better lives now and in the future. Through medical research we can:
- diagnose diseases earlier or more accurately
- provide life-changing treatments
- prevent people from developing conditions
- improve health and care for generations to come
- ensure everyone has a better quality of life
Every minute in the UK, someone is diagnosed with a disease or a condition. The treatment and support they will receive will, at some point, have been informed by research.
Why should I get involved?
You might want to get involved in research to:
- learn more about a condition that affects you
- make a difference, by helping to improve treatments and quality of life, now and for future generations
- support medical research for a particular condition or disease that you care about
- access new treatments
- take an active role in your own care.
Current open studies and trials
South East GLH staff across the region support and lead on research in a diverse range of clinical areas, taking the best new ideas from cutting-edge science to create new tests and treatments that benefit patients. You can find out more about current research we are involved in by following the links below:
Research FAQs
Depending on the study you join, your level of involvement could be quite different. It could be as simple as donating a small blood sample, answering surveys or it could involve having multiple appointments with clinicians to monitor your progress. Whatever the level of involvement required for the study, this will always be explained to you at the beginning so you know what is expected of you before deciding if you want to take part.
Anyone who is interested can take part in research. Each study will have its own inclusion and exclusion criteria so some studies are only open to people with specific conditions. However some studies will be looking for “healthy volunteers” to be used as a comparison to patients with a condition. Look at the eligibility criteria for studies you are interested in or speak to the clinical research team to see if you meet the requirements to participate
Before a study can start recruitment, it is reviewed by the Health Research Authority (HRA) and an independent research ethics committee to make sure it is safe, ethical and of high quality. All research studies are voluntary so you don’t have to take part if you don’t want to and you also have the option to withdraw from a study at any time without it affecting your care. If you have any concerns about joining a study you can speak to the research team or the person responsible for your recruitment and they will be able to answer any questions you have.
No, you will usually be given time to decide whether you want to take part. You will be provided with information about the study which you can take away with you to look at in more detail and discuss with your friends, family and doctor.
Informed consent means you have been given complete information about the study, including the risks and benefits, before deciding if you want to take part. You will need to sign a consent form when you join a study agreeing that this information was given to you and that you understood it.
In most cases research studies are voluntary. You may be reimbursed for things such as travel expenses and the research team will be able to explain to you in more detail about the availability of this.
Further resources
Websites that may be helpful in making informed choices about taking part in research and highlight other trials that you may be interested in:
The South London Clinical Research Network