Diagnostics


The diagnostics assessment programme at NICE evaluates technologies that could be used to diagnose or monitor a disease.

Some examples include:

  • Physiological technologies – equipment used to measure how a body is performing (such as body temperature or blood pressure).
  • Pathology technologies – laboratory tests to check for genetic mutations in a tumour or protein biomarkers in the blood.
  • Point of care technologies – tests that can be performed next to the patient rather than in a laboratory.
  • Imaging technologies – non-invasive machinery (such as CT scanners) and invasive procedure equipment (such as the tubing and camera needed to perform an endoscopy).

The programme aims to ensure that diagnostic technologies, found to be clinically and cost effective, are adopted by the NHS in a timely and consistent manner.

Highlights of 2016/17:

We published five pieces of diagnostics guidance this year, bringing us to a total of 25 diagnostic guidelines.


Tests to check mother and baby blood matches

In November 2016, we published final guidance recommending a new test for foetal Rhesus-D genotyping.

The test, called High-throughput, non-invasive prenatal testing (NIPT) takes a measurement of the baby’s DNA found circulating in its mother’s bloodstream. It then analyses the DNA to establish what blood group the baby has. If it is different to its mother’s it can cause serious complications.

By identifying Rhesus-D negative mothers who are carrying Rhesus-D positive babies we can ensure that they receive the necessary anti-D immunoglobulin treatment.

We developed a new adoption resource to support health professionals who want to offer NIPT to their patients. The resource was created with the help of NHS clinicians, who have reported the benefits of following our guidance. It includes real-life advice and examples of how NHS sites have integrated this test into their services.





A wider use of tests to detect cancer-causing genetic condition

In February 2017, we published final guidance recommending that everyone who is diagnosed with colorectal cancer be tested for an inherited genetic condition called Lynch syndrome (LS).

LS is the most common cause of hereditary bowel cancer and people with it also have an increased risk of developing other cancers including womb, ovarian and stomach. Testing for the condition helps to identify whether the patient’s family may also be at increased risk of cancer, meaning they could be monitored more closely.

The guidance recommends that microsatellite instability testing or immunohistochemistry should be used to detect abnormalities that might mean the presence of LS.


Professor Carole Longson MBE, director of the centre for health technology assessment at NICE, said: 

“There is currently wide variation in the provision of testing for Lynch syndrome and other inherited colorectal cancers. It is estimated by Bowel Cancer UK that only 50% of centres provide tests to assess the risk of Lynch syndrome in people diagnosed with colorectal cancer under the age of 50. The committee concluded that using these tests to assess the risk of Lynch syndrome in all patients diagnosed with colorectal cancer could have substantial benefits for patients and their families.”

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