Interpreted with family history
The result is considered alongside cancer types, ages at diagnosis and patterns among relatives.
Healthcare & LaboratoryGERMLINE TESTING
Hereditary Cancer Risk Testing
A germline genetic test that assesses selected inherited variants associated with hereditary cancer syndromes and supports clinical risk-management discussions.
03 / 05OVERVIEW
Some cancers are associated with genetic variants present from birth. Information from hereditary cancer testing may be relevant not only to the person tested but also to biological relatives.
Pre- and post-test genetic consultation, careful interpretation and consideration of appropriate surveillance are important parts of the testing process.
FEATURES
The result is considered alongside cancer types, ages at diagnosis and patterns among relatives.
Screening schedules, specialist referral and other follow-up may be considered with the healthcare team.
Privacy and personal preferences should guide whether and how results are shared with family members.
SPECIFICATION
Specifications and turnaround may vary according to specimen quality, transport, analytical status and the menu offered by the medical institution.
DETAILS
A clinician may consider testing after reviewing personal and family history.
Testing can identify clearly relevant variants as well as findings whose significance is not currently established.
Long-term care is considered in the context of the result and family history.
PROCESS
Personal and family history are reviewed.
Potential implications, limitations and secondary findings are discussed.
A specimen is collected after informed consent.
Selected genes are analysed and variants are classified.
A clinician explains the result and discusses appropriate management.
FAQ
ANo. Many variants increase probability but do not make cancer inevitable. Interpretation depends on the gene, age, family history and other factors.
AA germline variant may also be relevant to biological relatives. A genetics professional can help consider whether and how to share this information.
The final gene list and panel specification are being prepared. Formal specifications, consent documents, report samples and specialist review will be completed before implementation.