Important change to requesting diagnostic cancer genetic testing (inherited cancers)

This specifically relates to the 25 tests found in Part XI – Inherited Cancer of the Rare and Inherited Disease Genomic Test Directory:

• R207 Inherited ovarian cancer (without breast cancer)
• R208 Inherited breast cancer and ovarian cancer
• R210 Inherited MMR deficiency (Lynch syndrome)
• R211 Inherited polyposis and early onset colorectal cancer - germline test.
• R414 APC Associated Polyposis
• R212 Peutz Jeghers Syndrome
• R213 PTEN Hamartoma Tumour Syndrome
• R214 Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome
• R215 Hereditary diffuse gastric cancer
• R216 Li Fraumeni Syndrome
• R219 Retinoblastoma
• R220 Wilms tumour with features suggestive of predisposition
• R358 Familial rhabdoid tumours
• R359 Childhood solid tumours
• R224 Inherited renal cancer
• R225 Von Hippel Lindau syndrome
• R254 Familial melanoma
• R422 BAP1 associated tumour predisposition syndrome
• R363 Inherited predisposition to GIST
• R364 DICER1-related cancer predisposition
• R365 Fumarate hydratase-related tumour syndromes
• R367 Inherited pancreatic cancer
• R404 Testing of unaffected individuals for inherited cancer predisposition syndromes
• R430 Inherited prostate cancer
• R444 NICE approved PARP inhibitor treatment

If your patient fulfils the eligibility criteria for a particular test, as set out in the Rare and Inherited Disease eligibility criteria supporting document (opens in a new tab) (which supplements the National Genomic Test Directory (NGTD) (opens in a new tab)) then you should make a test request directly using the forms below, and not refer to Clinical Genetics.

Trusts this announcement covers

This change to the process for requesting testing for inherited cancers affects clinicians at the following NHS Trusts:

• North West Anglia
• Royal Papworth
• Cambridge University Hospitals
• Bedfordshire Hospitals
• East and North Hertfordshire
• The Queen Elizabeth Hospital King’s Lynne
• Norfolk and Norwich University Hospitals
• James Paget University Hospitals
• West Suffolk
• East Suffolk and North Essex

Genomic testing should be requested at presentation, and the NGTD sets out which specialities can order a particular test. For example:

• R210 Inherited MMR deficiency (Lynch syndrome) – Requesting Specialities include Oncology, Surgery, Gastroenterology and Histopathology

Many of these tests have implications for treatment, so it is appropriate for them to be arranged directly by the relevant specialty team, as referral to Clinical Genetics creates an unnecessary delay.

Support and guidance

• Please use the Rare Disease Genomic Test Order Form (non-WGS) and the Record of Discussion form on the East Genomics website. Both can be found here.
• The National Genomic Test Directory (opens in a new tab) is updated regularly, and includes eligibility criteria.
• If testing identifies a genetic diagnosis (Pathogenic or Likely Pathogenic variant) the patient will then need a referral to Clinical Genetics to discuss this further.
• Please also consider a referral if no variants or a variant of uncertain significance is identified AND there is a strong family history.

The East of England Cancer Alliance has a team of Genomic Practitioners (opens in a new tab) who provide support and training for cancer teams arranging genetic testing for colorectal, breast, endometrial and ovarian cancer. Their email is cpicb.eoegenomicsteam@nhs.net.

• Breast cancer – Testing flowchart (opens in a new tab) and PowerPoint (opens in a new tab)
• Ovarian cancer – Testing flowchart (opens in a new tab) and PowerPoint (opens in a new tab)
• Endometrial – Testing flowchart (opens in a new tab)
• Colorectal – Germline testing flowchart (opens in a new tab) and PowerPoint (opens in a new tab)
• Prostate – Germline testing flowchart (opens in a new tab) | Poster (opens in a new tab) | Flowchart (opens in a new tab)