Hereditary Cancer Testing: A Flexible Germline Testing Pathway for Your Patients

Identifying patients with an inherited predisposition to cancer can change how they are screened, treated and followed up, and can extend those benefits to their relatives. It enables personalised screening (higher frequency, higher sensitivity imaging, etc.), tailored treatment, alongside customised follow-up and long-term care. These benefits can also be cascaded for relatives.

Source BioScience is now offering a hereditary cancer testing service, designed to give clinicians a straightforward, clinically governed route to germline testing. The service offers comprehensive and disease-specific panels, with blood, saliva or buccal swab collection, so clinicians can choose the most appropriate test and sample route for each patient.

The Case for Germline Testing

Around 5–10% of cancers are attributable to inherited pathogenic variants. Some, such as BRCA1 and BRCA2, confer a high risk of specific cancers, notably breast, ovarian and prostate cancer. Others affect core pathways such as DNA repair and cell-cycle control, and so raise the risk across several tumour types.

A pathogenic variant indicates elevated risk rather than certainty, and penetrance varies by gene and by individual. Interpreted alongside personal and family history, however, a germline result gives a far clearer picture of risk than history alone, and an actionable basis for management.

Clinical Value

A germline result can inform decisions across the care pathway:

• Personalised surveillance
  Carriers can be moved onto enhanced screening, such as earlier or more frequent imaging, supporting earlier detection.
• Risk reduction
  Results support discussion of targeted strategies, including chemoprevention and risk-reducing surgery where appropriate.
• Treatment selection
  In patients already diagnosed, germline status can guide therapy. For example, BRCA status informs eligibility for PARP inhibitors in several tumour types.
• Cascade testing
  A confirmed familial variant allows targeted testing of at-risk relatives, identifying carriers before cancer develops.

Genetic counselling can support the interpretation of results and inform discussions around potential next steps.

Which Patients to Consider

Testing is likely to be most informative in patients with:

• A strong family history of cancer, particularly clusters of related cancers on one side of the family
• Early-onset cancer in themselves or a close relative
• A known pathogenic variant in the family
• A current cancer diagnosis, or a clinical suspicion of cancer, where germline status may affect management

Panel Options

Choose a broad panel where the family history is mixed or unclear, or a focused panel where the clinical question is specific.

Panel	Indication	Genes
Comprehensive Hereditary Cancer Panel	Broad risk assessment, especially strong family history, early-onset cancers or known familial variants.	Up to 54
Hereditary Breast Ovarian Cancer Panel	Patients diagnosed with, or at potential risk of, breast or ovarian cancer.	Up to 19
Hereditary Prostate Cancer Panel	Patients diagnosed with, or at potential risk of, prostate cancer.	Up to 11

All panels accept blood, saliva or buccal swab samples, and additional panels are available on request. Testing is performed in a UKAS accredited medical laboratory.

Supporting Genomic Testing Pathways Across Healthcare

Our service provides clinicians across NHS and private healthcare settings with an additional route to hereditary cancer testing, helping broaden access to testing and support informed clinical decision-making.

Partnering with Source Genomics gives your practice:

• Fast turnaround times on results
• Testing in a UKAS accredited medical laboratory
• Flexible sample collection to suit clinic and remote settings
• Support at every stage, from test selection to integrating testing into your workflow

Whether you are a pathologist expanding your diagnostic toolkit or a clinician seeking deeper molecular insight, hereditary testing sits alongside our wider precision oncology portfolio, including tumour profiling for prostate, bladder, lung, breast and colon cancers.

Get in Touch

To find out how you can offer your patients hereditary cancer testing with clear, actionable results, visit our hereditary cancer page, download the leaflet or contact our team at info@sourcebioscience.com.