Genetic Testing
Also known as: genomic testing, molecular profiling
Tests that examine genes to find inherited risk or to guide cancer treatment.
Definition
Genetic testing in oncology has two distinct purposes. Germline testing uses a blood or saliva sample to look for inherited mutations — such as BRCA1/2 — that increase a person's lifetime risk of certain cancers and may also affect family members. Tumour (somatic) testing examines the DNA inside the tumour itself to identify mutations such as EGFR, HER2, KRAS or ALK that can be matched to specific targeted therapies.
Genetic testing is offered selectively, based on family history, cancer type and age at diagnosis. Results are best interpreted alongside genetic counselling so that patients and families understand the implications.
See also
- BRCA1 / BRCA2 — Inherited gene mutations that significantly raise the lifetime risk of breast and ovarian cancer.
- DNA — The molecule that carries the genetic instructions inside every cell of the body.
- Targeted Therapy — Drugs designed to attack specific molecules involved in cancer growth, with less harm to normal cells.
- EGFR — A protein on the surface of some cancer cells that can be blocked by targeted drugs.
- HER2 — A growth protein over-expressed in some breast and stomach cancers, which can be targeted with specific drugs.
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Medically reviewed by
Dr. Rehan Abdullah
Dr. Rehan Abdullah is a dual-trained clinical and radiation oncologist with over a decade of experience treating both solid tumours and hematologic malignancies. He serves as Consultant Oncologist at INMOL Hospital and sees patients at Farooq Hospital and Healthnox Medical Center, Lahore. Read full profile →
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