How will this affect patient consent and what do I need to do differently?
The National Genomic Informatics System (NGIS) will have a patient consent section included as part of the online test ordering service for WGS.
For rare disease patients consent is required before WGS testing can take place. In cancer patients, consent can provided later in the case of urgency and lack of patient capacity to give consent around an operation.
Every patient eligible for WGS will have a consent form to read and discuss with their healthcare professional before they sign it.
Initially this consent process will only apply to WGS requests; training will start to be rolled out by specialty once the new ordering system becomes available.
In addition to consent for WGS, where appropriate this discussion will also include an opportunity for the patient(s) to state their choice about whether their anonymised genomic and clinical data is submitted into the national research data library.
The consent forms and information sheets for the patients cover information about WGS and submission to the research data library.
So what will change with testing and what area does London North GLH cover?
Rather than sending tests to individual labs across the country, from 2020/21 those NHS Trusts in the North Thames geography will send samples for genomic diagnostic tests to the North Thames GLH (Royal Marsden for Cancer and Great Ormond Street for Rare and Inherited Diseases).
This area covers Hospital Trusts in north, east and west London as well as parts of Hertfordshire and Bedfordshire. The lists of Trusts are below, but others may be included for cancer samples:
Barking, Havering and Redbridge University Hospitals NHS Trust
Barnet, Enfield and Haringey Mental Health NHS Trust
Barts Health NHS Trust
Basildon and Thurrock University Hospitals NHS Foundation Trust
Camden and Islington NHS Foundation Trust
Central and North West London NHS Foundation Trust
Central London Community Healthcare NHS Trust
Chelsea and Westminster Hospital NHS Foundation Trust
East London NHS Foundation Trust
Great Ormond Street Hospital for Children NHS Foundation Trust
Hertfordshire Community NHS Trust
Hertfordshire Partnership University NHS Foundation Trust
Homerton University Hospital NHS Foundation Trust
Imperial College Healthcare NHS Trust
London North West Healthcare NHS Trust
Mid Essex Hospital Services NHS Trust
Moorfields Eye Hospital NHS Foundation Trust
North East London NHS Foundation Trust
North Middlesex University Hospital NHS Trust
Royal Free London NHS Foundation Trust
Royal National Orthopaedic Hospital NHS Trust
South Essex Partnership University NHS Foundation Trust
Southend University Hospital NHS Foundation Trust
Tavistock and Portman NHS Foundation Trust
The Hillingdon Hospitals NHS Foundation Trust
The Princess Alexandra Hospital NHS Trust
The Royal Marsden NHS Foundation Trust
The Whittington Hospital NHS Trust
University College London Hospitals NHS Foundation Trust
West Hertfordshire Hospitals NHS Trust
West London Mental Health NHS Trust
How will testing pathways change?
All nonWGS tests will be provided via the GLH. The GLH Rare Disease Laboratory based at Great Ormond Street Hospital (GOSH) will deliver the majority of Rare and Inherited Disease testing. For a small number of specialties the testing will be performed by other GLHs, but all samples should be sent to GOSH who will send samples on as required. The GLH cancer laboratory is hosted by the Royal Marsden. This lab will deliver the majority of acquired cancer tests including Solid Tumour Panel Testing with consolidation of haematological malignancy panel tests to follow.
For WGS, the samples will be prepared and DNA extracted for all samples in the Rare Disease lab at GOSH. The DNA will be sent to the NHS sequencing hub in Cambridge and the sequencing data will be returned to the GLH via Genomics England and their interpretation portal. The appropriate experts and clinical scientists from across the GLH will interpret and report results.
How do we work with other Labs?
The Genomic Medicine Service comprises seven Genomic Laboratory Hubs across England. The hubs will form a collaborative network for genomic testing facilitating data sharing and service improvement. The 7 hubs are as follows:
• Yorkshire and North East GLH led by The Newcastle upon Tyne Hospitals NHS Foundation Trust
• North West GLH led by Manchester University NHS Foundation Trust
• Wessex and West Midlands GLH led by Birmingham Women’s and Children’s NHS Foundation Trust
• East Midlands and East of England GLH led by Cambridge University Hospitals NHS Foundation Trust
• North Thames GLH led by Great Ormond Street Hospital for Children NHS Foundation Trust
• London South GLH led by Guy’s and St Thomas’ NHS Foundation Trust
• South West GLH led by North Bristol NHS Trust
What is the Genomic Test Directory?
Please visit our National Genomic Test Directory (NGTD) page.
Which genomic tests are availiable on the NHS and why aren’t specific tests listed in the directory?
Any genomic tests that are not included in the National Genomic Test Directory are Out of Scope. This includes, for example:
· Infectious diseases, such as molecular sequencing of pathogens.
· Tissue typing, for which the demand is determined by factors such as the location of transplant units.
· Histopathology and cytopathology not using genomic technologies, for example immunochemistry, or using routine molecular pathology testing, such as in situ hybridisation FISH for HER2.
· Newborn screening, when it is undertaken by biochemical testing.
The Test Directory was developed with the support of two expert groups established by NHS England – one for rare and inherited disorders and one for cancer. The expert groups brought together clinicians, scientists, health economists, policy experts, public representatives and patient organisations.
The Test Directory will be updated annually and supported by robust scientific evidence and peer review. As the evidence develops, the scope of the Test Directory is likely to expand to cover other areas, such as pharmacogenomics i.e. how patients’ genomic variation affects how they respond to the medicines they are given.
How can I get a specific test added to the Directory?
NHS England has established a National Clinical Reference Group (CRG) to oversee future changes to the National Genomic Test Directory. This group is developing a system whereby clinicians and scientists can apply to have additional tests added to the NGTD. These are still under development and we will provide details on the website when they are available.
Will all tests in the directory be available for non-genetics clinicians to order themselves or will they require referral to genetics clinics before ordering?
Referrals to clinical genetics may not be required. Each genomic test, WGS or otherwise, can be accessed for patients who meet the referral (eligibility) criteria for the test. The Rare and Inherited Disease Eligibility Criteria supplement the National Genomic Test Directory by setting out which patients should be considered for testing under each clinical indication, and the requesting specialties is a list of the clinical specialties who would be expected to request the test. If you are unsure you can contact the GLH for advice.
What will the WGS online test selection tool look like?
Are clinicians required to interpret the results of genomic tests?
No. Scientists will continue to carry out most of the variant interpretation and provide the referring clinician with an interpretive clinical report based on the clinical information provided. However, for many cases, and in particular for WGS, clinical input is required for interpretation and you may need to attend an MDT to assist with variant interpretation. These are usually held virtually and dates planned in advance. If you do not wish to participate in MDTs then it is probably best to refer the patient to a relevant clinical expert to request the test and attend MDTs to assist with interpretation if required.
At the moment, experience and confidence in interpreting genomic test reports varies widely amongst clinicians. It is expected that this will become a more routine part of patient care across all disease types in future in the NHS, but for a period of time, there will be some clinicians with significant experience, and others who are relatively new to genomic interpretation. With the focus on mainstreaming genomics Health Education England has established a Genomics Education Programme to ensure that staff in the health and care system have the knowledge skills and experience to keep this country a world leader in genomic and precision medicine. The GLH will also be delivering training sessions and developing resources to support clinicians locally.
Where do I find the Health Education England online modules?
You can find more information on the Health Education England Genomics Education Programme on their website: https://www.genomicseducation.hee.nhs.uk/taught-courses/course-category/cppd-course/
There are a number of online resources and self-directed education for NHS staff, including general courses, such as Introduction to Genomics and Introduction to Bioinformatics, and tailored training such as Consent and Ethics.
What else is Health Education England (HEE) doing to support Genomic Education among clinicians?
HEE founded the Genomic Education Programme (GEP) to support the education and training of the current and future healthcare workforce to ensure the benefits of genomic medicine for patient care are realised.