Referral pathway

The Cancer Genetics Service for Wales pre screens referrals to ensure that the referral criteria are met. If on the receipt of the original referral the criteria are not met, a letter from the consultant geneticist is sent to the GP explaining the reasons that the referral does not meet the requirements and the patient is discharged from the service without being seen. If the criteria are met or seem to be met then:-

  • A family history questionnaire is sent to the patient, to identify family history and baseline information.
  • (the referral is only taken further if the questionnaire is returned)
  • Where necessary, the family history is clarified and confirmed.
  • A risk assessment is undertaken to categorise the patient as 'High','Moderate' or 'Average' risk.
  • The patient, referring doctor and GP are informed of the risk category.
  • All high-risk and some moderate-risk patients are offered an appointment in the Cancer Genetics clinic.
  • All patients are given contact details for the Cancer Genetics Service and invited to re-contact in the event of a change in family history.

Once the patient’s risk is categorised the following will occur:-

Average Risk

The aim is to reassure this group that, on the information given, their risk is not significantly raised above that of the general population, so extra surveillance is not recommended. They should continue standard health awareness and screening as for the general population.

Moderate Risk

The aim is to facilitate or coordinate on-going management between primary care and appropriate specialist clinicians (e.g. local breast or colorectal surgeons) or screening organisations (e.g. Breast Test Wales). Patients maybe referred directly by the Cancer Genetics Service or they will suggest an appropriate referral route for the GP. In some cases laboratory investigations may be recommended to help clarify a patient's risk status.

High Risk

In addition to suggesting the involvement of other specialist clinicians and recommending appropriate surveillance, this group will be seen in the Cancer Genetics clinic and genetic testing may be offered in some families.



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