Clinic set up

Most teams find that it takes around 3 months to set up their services. To help you think about what is needed, please read the clinic set-up guidance document.

Here are some top tips if you are asked about your new service by clinical and non-clinical managers within your hospital:

Before you start, we recommend that you review the facilitating genomic testing competencies. This is a reference document and is not intended to be used as an assessment tool.

Before you give your first genomic result, we recommend that you review the communicating germline genomics results competency framework.

 

Discussion tool

There are a few things to think about before talking to patients about genomics.

The Genomics Education Programme recently met with patients and family members with personal experiences of cancer and rare disease  The group relayed the following key advice to healthcare professionals (taken from The Genomics Conversation: What matters to patients):

  1. Avoid technical terms and use ‘plain English’.
  2. Give the patient regular opportunities to ask questions, during and after the consultation.
  3. Signpost to information for the patient.
  4. Clear, open communication is important.
  5. Explain the possible outcomes of the test, including uncertainties.

 

The ONS 'Glad You Asked' series also explains some strategies regarding a conservation with patients:

  1. Give the most important information first.
  2. Limit the number of messages.
  3. What do they need to know and why?
  4. Limit jargon.
  5. Refer to Genetic Counsellors for complex conversations/situations.
  6. Resources: patient information/reliable resources to signpost to.

Frequently asked questions

  • What is Genomic Testing?

    A genomic test looks at part or all of an individual's genetic material to look for signs that might explain a clinical condition. These may include:

    • differences in the unique sequence of DNA letters
    • missing chunks of DNA
    • additional chunks of DNA
    • DNA sequences that are not in the correct order.
  • What is involved in the test and how is it carried out?

    Depending on the tumour site, most tests will be carried out by taking a blood sample or a saliva sample. Before this can happen, it is important for the person consenting to testing understands the possible results and the impact on both them and their relatives.

    This should mean that a person who is taking a genomic test has the opportunity to have an in-depth conversation with a trained professional, their questions answered and uncertainties addressed.

    It is important to provide an overview of the possible results that might be returned from a diagnostic test: is it looking at a few genes, is it looking at lots of genes or all of the DNA? Then explain what the implications of the result will be.

  • How will I access my results?

    Results are usually fed back directly to the clinical team who have ordered the test, usually via end-to-end encrypted email sent directly from the laboratory. This result will then be communicated to you, either in a face-to-face or a virtual/telephone appointment. A copy of the report can be made available to you if you request it.

  • What do my results tell me?

    It is helpful to explain that there are usually 3 possible results from this test:

    • Negative
      No pathogenic variant has been found in the DNA looked at during the test. This result can feel like a relief, or for some people, can feel quite frustrating or even disappointing.
    • Positive
      This means a pathogenic variant has been identified. Depending on the variant and type of cancer you have, it will likely impact on your treatment options, your treatment order and on your family.
    • VUS: Variant of unknown significance
      This result means that a variant has been found but there isn't enough data to conclude that is definitely linked with the cancer you have been diagnosed with.
  • How will this impact my family?

    If it is confirmed that you have a ‘pathogenic variant’ it is likely that this will affect your family. Most pathogenic variants that are linked to cancer are passed on in an ‘autosomal dominant’ pattern, which essentially means each first degree relative has a 50% (1 in 2) chance of sharing the same variant with you.

    Genetic counsellors at your local Clinical Genetics Centre will be able to help you share this information with your family. Each relative should contact their GP if they wish to in order to pursue what is called predictive testing. The GP will arrange for the relatives to meet with their nearest clinical genetics team and have a blood sample taken to compare their DNA to yours and see if they share the same pathogenic variant (/gene alteration).

  • Will having this test affect my insurance?

    In most instances, having a genomic test will not affect the personal health insurance someone has. You do not usually have to tell insurers that you are having a genomic test. You may have to disclose this information on an application form if you are applying for new insurance.

    If you already have insurance cover in place, you do not have to disclose any further information to your insurer. More information is available on the Genomics England and Association of British Insurers (ABI) website.

  • What about my data?

    All data used for genomic analysis is kept secure and confidential. More information is available on the NHS England website.

    The results of a patient’s genomic test will be added to their patient record.

    It is normal practice in the NHS to store the DNA and/or RNA extracted from a sample even after the current testing is complete, as it may be used for future analysis and/or to ensure other testing (for example that of family members) is of high quality.

    For Whole Genome Sequencing, the data from genomic tests is entered into a secure national database for the NHS Genomic Medicine Service. This system will store data about the test and results. Only staff with approved access can see this data.

    As part of the NHS Genomic Medicine Service all patients undergoing whole genome sequencing will be given the option to contribute their genomic data to a secure library so that approved researchers may access that data in a form that does not identify them. If patients choose to do this then your data will be helping researchers and scientists to develop the treatments of tomorrow.

    Managing genomic information, informatics and governance will be increasingly challenging. Data needs to be appropriately integrated into NHS IT systems. Genomes produce huge amounts of data (‘petabytes’):

    • Where is this data stored?
    • How is it coded?
    • Who owns this information? Individual's or whole family's?

Regional Lynch Syndrome Nurse Contacts

North West

Mandy Darbyshire, Family History and Mainstreaming Genomic Practitioner (Miranda.Darbyshire@mft.nhs.uk)

North East and Yorkshire

Karen Westway, Lynch Syndrome Project Manager/CNS (K.Westaway@nhs.net)

Central

Felicity Blair (Felicity.Blair@uhb.nhs.uk)

Caroline Stone (Caroline.Stone@uhb.nhs.uk)

North Thames

Laura Monje-Garcia (National Lead Nurse) (Laura.Monje-Garcia@nhs.net)

Anna Koziel (Anna.Koziel@nhs.net)

East

Melissa Cambel-Kelly (Melissa.Cambellkelly@nnuh.nhs.uk)

South West

Tracie Miles, Associate Director of Nursing and Midwifery SWGMSA) (Tracie.Miles@nhs.net

Siobhan John (Siobhan.John@nhs.net)

South East

Aela Limbu (Aela.Limbu@gstt.nhs.uk)