SWGLH Inherited Cancer Testing Services

SWGLH Inherited Cancer Testing Services

This page provides information and toolkits to support clinicians who are requesting germline genetic tests for inherited cancer syndromes. The toolkits provide a step by step guide for selecting and arranging these tests, including key forms for consent and arranging samples. 

The following drop-down boxes contain information for some of the inherited cancer testing services we support. For a full list of genetic tests available via our service, please visit the National Test Directory. 

R207 Inherited Ovarian Cancer

Step 1: Check Patient Eligibility 

Eligibility for these tests is determined according to the National NHS England » National genomic test directory - see rare and inherited disease eligibility criteria. If, after accessing the directory and the toolkit, you are unclear about eligibility or sample arrangements, please contact SWGLHcancer@nbt.nhs.uk and we will be glad to support you. 

(Note: these toolkits are for germline tests. For somatic tests see SWGLH Requesting a Genomic Test for Solid Tumours)


Step 2: Consent the patient

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below Patient information leaflet can be used with or without local trust logo to support patient information provision. 

Patient Information Leaflet – R207 Patient Information Leaflet V1 GLH LOGO: 

Patient Information leaflet with the option to add your Trust Logo: 

Printing Guidance for Patient Information Sheets

  • Print in landscape.
  • Print on both sides.
  • Flip on short edge.

Step 3: Arranging samples and completing the test request form

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch. 

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

  • The test required.
  • Patient diagnosis (confirming eligibility).
  • Any relevant family history.
  • Who the result should be returned to - a shared results email account for your team is recommended .

Send the completed form with samples:

Step 4: Transportation of samples to the SWGLH

Samples should be transported to the SWGLH through your local pathology systems, unless advised otherwise. These samples should be kept at room temperature or at 4oC and should not be frozen before dispatch. They should ideally arrive within 3 days of sample collection.  

Please refer to the SWGLH Sample Requirements and Transport page for further information. 

Step 5: Results and turnaround times

Results will be returned to the email account or clinician listed on the form

  • The national turnaround time for these tests is 42 working days, from sample receipt. Current turnaround times for some tests are considerably shorter than this.
  • When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.
  • Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service: 

Devon and Cornwall region: rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS  Foundation Trust)

Bristol region: ubh-tr.clinicalgeneticsuhb@nhs.net

R208 Inherited breast and ovarian cancer

Step 1: Check Patient Eligibility

Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).


Step 2: Consent the patient

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving. 

Mainstreaming R208 Consent Form: 

Patient Information Leaflet – Genomic testing Inherited cancer R208 with SWGLH logo: 

Patient Information Leaflet - Genomic testing Inherited cancer R208 with space for Trust logo:

Printing Guidance for Patient Information Sheets

  • Print in landscape
  • Print on both sides
  • Flip on short edge


BReast CAncer Genes and Me  

‘BReast CAncer Genes and Me’ is a digital patient empowerment project that’s set to transform the experience of people with a diagnosis of breast cancer that might have implications on other family members.

The project introduces the concept of genetic testing for breast cancer in an accessible format, presented as a six-part series of colourful animations. Each video features digestible information accompanied by gentle music and a clear voiceover that takes the participant through the process and implications of genetic testing.

This project has been developed as part of a Collaborative Working initiative between the South West Genomic Medicine Service Alliance and AstraZeneca UK, and has been co-designed by clinicians and patients alike, providing an overview of the genetic testing pathway from start to finish. We have been working with Magentus Global Health Tech for our digital solution. 

BReast CAncer Genes and Me aims to streamline the consent process for breast cancer genetic testing through a digital consent pathway, supporting patients and their families through every stage and guiding them to become confident decision-makers.

View the videos on our YouTube channel.
 

Step 3: Arranging samples and completing the test request form

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch. 

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

  • The test required.
  • Patient diagnosis (confirming eligibility).
  • Any relevant family history.
  • Who the result should be returned to - a shared results email account for your team is recommended .

Send the completed form with samples:

Step 4: Transportation of samples and request form to the SWGLH

Samples should be transported to the SWGLH through your local pathology systems, unless advised otherwise. These samples should be kept at room temperature or at 4oC and should not be frozen before dispatch. They should ideally arrive within 3 days of sample collection.  

Please refer to the SWGLH Sample Requirements and Transport page for further information. 

 

Step 5: Results and turnaround times

Results will be returned to the email account or clinician listed on the form

The national turnaround time for these tests is 42 working days, from sample receipt. Current turnaround times for some tests are considerably shorter than this.

When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.

Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service:

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

ubh-tr.clinicalgeneticsuhb@nhs.net

 

Educational resources

Competency frameworks for cancer genomics are available on the Genomics Education programme website.

R444.1 NICE approved PARP Inhibitor treatment (Breast)

Step 1: Check Patient Eligibility 

Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).


Step 2: Consent the patient

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving. 

Please use the mainstreaming R208 Consent Form: 

  • Patient Information Leaflet – Patient Information Leaflet – R444 (Breast Cancer) PIS with SWGLH logo: 
  • Patient Information Leaflet - Patient Information Leaflet – R444 (Breast Cancer) PIS with space for Trust logo: 

Printing Tips for Patient Information Sheets

  • Print in landscape.
  • Print on both sides.
  • Flip on short edge.

 

Step 3: Arranging samples and completing the test request form

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch. 

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

  • The test required.
  • Patient diagnosis (confirming eligibility).
  • Any relevant family history.
  • Who the result should be returned to - a shared results email account for your team is recommended.

Send the completed form with samples:

 

Step 4: Transportation of samples and request form to the SWGLH

Samples should be transported to the SWGLH through your local pathology systems, unless advised otherwise. These samples should be kept at room temperature or at 4oC and should not be frozen before dispatch. They should ideally arrive within 3 days of sample collection.  

Please refer to the SWGLH Sample Requirements and Transport page for further information. 

 

Step 5: Results and turnaround times

Results will be returned to the email account or clinician listed on the form

  • The national turnaround time for these tests is 42 working days, from sample receipt. Current turnaround times for some tests are considerably shorter than this.
  • When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.
  • Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service: 

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

ubh-tr.clinicalgeneticsuhb@nhs.net

 

Educational resources

Competency frameworks for cancer genomics are available on the Genomics Education programme website.

R430, R444.2 and R240 – Inherited Prostate Cancer and PARP Inhibitor Treatment for Prostate Cancer

There are three different test codes depending on the reason for testing prostate patients. Please see the NGTD for eligibility criteria and select the appropriate test.
•    R430 - direct germline testing for patients who are eligible for panel testing based on personal or family history.
•    R444 - for patients being assessed for PARP inhibitor eligibility, where somatic testing has failed. 
•    R240 - for patients whose somatic test showed a gene variant. This test confirms whether the variant is present in the germline.”
 

Step 1: Check Patient Eligibility 

Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).


Step 2: Consent the patient

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving. 

Please use the generic consent form: 

  • Patient Information Leaflet – Patient Information Leaflet – R444.2 NICE approved PARP Inhibitor treatment (Prostate) PIS with SWGLH logo: 

Printing Tips for Patient Information Sheets

  • Print in landscape.
  • Print on both sides.
  • Flip on short edge.

Step 3: Arranging samples and completing the test request form

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch. 

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

  • The test required.
  • Patient diagnosis (confirming eligibility).
  • Any relevant family history.
  • Who the result should be returned to - a shared results email account for your team is recommended .

Send the completed form with samples:

 

Step 4: Transportation of samples and request form to the SWGLH

Samples should be transported to the SWGLH through your local pathology systems, unless advised otherwise. These samples should be kept at room temperature or at 4oC and should not be frozen before dispatch. They should ideally arrive within 3 days of sample collection.  

Please refer to the SWGLH Sample Requirements and Transport page for further information. 

 

Step 5: Results and turnaround times

Results will be returned to the email account or clinician listed on the form

  • The national turnaround time for these tests is 42 working days, from sample receipt. Current turnaround times for some tests are considerably shorter than this.
  • When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.
  • Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service: 

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

ubh-tr.clinicalgeneticsuhb@nhs.net

R210 Inherited MMR deficiency (Lynch Syndrome)

Step 1: Check Patient Eligibility 

Eligible tumours and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).


Step 2: Consent the patient

Germline genetic tests have implications for future and family health. Patients should be informed of the implications and be appropriately consented, using a tool such as the Mainstreaming Consent Form to document in the patient record. The below patient information leaflet can be used with or without local trust logo to support patient information giving. 

  • Mainstreaming R210 Consent Form: 

 

  • Patient Information Leaflet –  Lynch Syndrome (R210) Patient Information Leaflet with SWGLH logo: 

 

  • Patient Information Leaflet -  Lynch Syndrome (R210) Patient Information Leaflet with space for Trust logo: 

Printing Tips for Patient Information Sheets

  • Print in landscape.
  • Print on both sides.
  • Flip on short edge.

 

Step 3: Arranging samples and completing the test request form

Blood samples in EDTA tubes (2 x 4ml for adults, 2-5ml for children and 1-2ml for neonates) are required for these tests. Samples should be kept at room temperature or at 4oC and not be frozen before dispatch. 

Please ensure all sample tubes are labelled and accompanied by the test request form

Complete the SWGLH Genomic Test Request form, including:

  • The test required.
  • Patient diagnosis (confirming eligibility).
  • Any relevant family history.
  • Who the result should be returned to - a shared results email account for your team is recommended.

Send the completed form with samples:

 

Step 4: Transportation of samples and request form to the SWGLH

Samples should be transported to the SWGLH through your local pathology systems, unless advised otherwise. These samples should be kept at room temperature or at 4oC and should not be frozen before dispatch. They should ideally arrive within 3 days of sample collection.  

Please refer to the SWGLH Sample Requirements and Transport page for further information. 

 

Step 5: Results and turnaround times

Results will be returned to the email account or clinician listed on the form

  • The national turnaround time for these tests is 42 working days, from sample receipt. Current turnaround times for some tests are considerably shorter than this.
  • When special circumstances require a more urgent result, please flag this on the form and contact the Bristol Genetics laboratory to discuss the best approach.
  • Once results are received, please see your local mainstreaming guidance for information on management and Clinical Genetics involvement. If you need advice, contact your local Clinical Genetics service: 

rduh.pcgreferrals@nhs.net (or via the Epic system if you are based at the Royal Devon University Healthcare NHS Foundation Trust)

ubh-tr.clinicalgeneticsuhb@nhs.net

 

Educational Resources

You can find the competency training and evidence form "facilitating germline genomic testing in Lynch Syndrome" on the NHS Health  Education England website. 

Competency frameworks for cancer genomics are also available on the Genomics Education programme website.

The patient information on the South West Genomic Laboratory Hub webpages are provided by the Genomics Medicine Service. For further information please visit www.england.nhs.uk/genomics/

Page updated: 04/09/2024