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Example clinical scenario

A 45-year-old man attends the neurology clinic with his wife. They are concerned about his increasing short-term memory loss, and his wife has noticed that he is having difficulty managing his finances. Cognitive testing reveals deficits in executive function and memory impairment.

When to consider genomic testing

  • Genomic testing should be considered if the patient’s clinical features fulfil the criteria for a clinical diagnosis of dementia, and acquired causes – such as stroke or intracranial tumours – have been excluded. In addition, one of the following should be present:
    • onset below 55 years of age;
    • a history of dementia of the same type in a first- or second-degree relative; and/or
    • a family history of motor neurone disease in a first- or second-degree relative.
  • Unaffected individuals may present with a family history of an adult-onset genetic condition. Where signs and/or symptoms suggestive of that condition are not present in the patient, they should be offered referral to a local clinical genetics service to discuss testing as part of a predictive (presymptomatic) testing pathway.
  • A genetic diagnosis may have implications for other family members, and can be particularly relevant during a pregnancy. For some genetic conditions, rapid testing is available for the purposes of pregnancy management. Assessment of symptoms during pregnancy and discussion of the patient’s choices regarding prenatal testing may be offered. If the patient or a close relative is pregnant, you may wish to offer them a referral to the local clinical genetics service for further discussion.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria document for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • Decide which panels best suit the needs of your patient and/or their family. For early onset dementia there are a number of available tests.
  • For tests that are undertaken using WGS, such as R58, you will need to:
  • For tests that do not include WGS, such as R68 and R337, you should use your local GLH test order and consent (ROD) forms.
  • For all the tests outlined above, an EDTA sample (purple-topped tube) is required.
  • Information about patient eligibility and test indications were correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

For patients

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  • Last reviewed: 04/09/2023
  • Next review due: 04/09/2024
  • Authors: Dr Charlotte Sherlaw-Sturrock
  • Reviewers: Dr Gabriela Jones, Dr Mary O’Driscoll