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East Genomics

Genetic testing for breast cancer and cardiac conditions - new e-learning packages

Clinical Geneticists at Cambridge University Hospitals (CUH) have developed several short e-learning modules to help healthcare professionals across the East of England and East Midlands offer genomic testing to patients.

Two modules are now live and are now being rolled out across the region to oncologists and cardiologists. They focus on hereditary (or germline) genetic testing in patients with breast cancer and testing for those with inherited cardiac conditions.

The NHS National Genomic Test Directory specifies which patients should be offered genetic testing.

It also specifies who can order genetic tests and this now includes Oncologists and Cardiologists to facilitate the mainstreaming of diagnostic genetic testing.

Germline genetic testing in patients with breast cancer

The NHS National Genomic Test Directory specifies which breast cancer patients should be offered germline genetic testing. It also specifies who can order genetic tests and this now includes Oncologists.

Currently germline breast cancer testing is for genes BRCA1, BRCA2 and PALB2. Over time, this panel of genes will be expanded. Information regarding sample requirements and consent forms for breast teams who wish to order tests are available here.

Thisshort eLearning module aims to support health professionals in the East Genomics region offer germline genetic testing for patients with newly diagnosed breast cancer.

Read more about the process

Test results will be reported back to the requesting clinician to inform the patient; most patients will not require a referral to the Clinical Genetics service. However, for any patients with a likely pathogenic variant/pathogenic variant or a previous personal history/strong family history of cancer, a referral should be made to the local Clinical Genetics service.

Further details on indications for referral, contact details of the three Clinical Genetics services within the East Genomics region and how to refer are in the eLearning module.

We encourage you to organise genetic testing and the Clinical Genetics services will help support you, however you can continue to refer patients to us if you prefer.

If you or your team would like further training regarding mainstream breast cancer genetic testing, please contact your local Clinical Genetics department.

Information regarding sample requirements and consent forms for clinicians who wish to order tests are available here.

The online modules can be accessed here.

Genetic testing in patients with inherited cardiac conditions

The NHS National Genomic Test Directory specifies which patients should be offered genetic testing. It also specifies who can order genetic tests and this now includes Cardiologists.

Currently genetic testing is available for a variety of inherited cardiac conditions (ICC) conditions under certain specific criteria, including Thoracic aortic aneurysms/dissections, Arrhythmias e.g. Brugada and Long QT syndrome, and Cardiomyopathies e.g. Hypertrophic, Arrhythmogenic, and Dilated. Information regarding sample requirements and consent forms for Cardiologists who wish to order tests are available here.

Thisshort eLearning module aims to support health professionals in the East Genomics region offer genetic testing for patients with the conditions above.

Read more about the process

Test results will be reported back to the requesting clinician to inform the patient. For any patients with a likely pathogenic variant/pathogenic variant or where you strongly suspect a genetic cause, a referral should be made to the local Clinical Genetics service. If you obtain a variant of uncertain significance, there will be clear advice, but for support you can contact the Clinical Genetics service.

Further details on indications for referral, contact details of the three Clinical Genetics services within the East Genomics region and how to refer are in the eLearning module.

We encourage you to organise genetic testing and the Clinical Genetics services will help support you, however you can continue to refer patients to us if you prefer.

If you or your team would like further training regarding mainstream cardiology genetic testing, please contact your local Clinical Genetics department.

Information regarding sample requirements and consent forms for clinicians who wish to order tests are available here.

The online modules can be accessed here.