About Cancer Genetic and Genomic Testing

Genetics is the study of single genes and their role in the way traits or conditions are passed from one generation to the next. Genetic alterations can be inherited from one’s parents, caused by environmental factors, or occur during natural processes such as cell division, and account for 90 to 95 percent of all cases of cancer. Genetic testing involves looking at the specific inherited changes or mutations in the chromosomes, genes or proteins that humans are born with and their role in the ways traits or conditions are passed from one generation to the next. Genetic testing can also be used to examine mutations that have been acquired in genes after birth.

Cancer is a group of diseases caused by changes in DNA that alter cell behavior, causing uncontrollable growth and malignancy. These abnormalities can take many forms, including DNA mutations, rearrangements, deletions, amplifications, and the addition or removal of chemical marks.

Genomics describes the study of all parts of an organism’s genes. Genomic tumor testing can tell one type of cancer or subtype of the cancer from another, identify the DNA alterations that are driving the growth of a particular tumor, as well as gain a better understanding of the molecular basis of cancer growth, metastasis, and/or drug resistance. Precision medicine uses the specific information about the tumor to help diagnose, select optimal therapies based on the context of the patient’s genetic profile, determine how well a treatment is working or make a prognosis.

Patient & Caregiver Resources

• Basket Trials in clinicaltrials.gov
• “Basket Trials” – Clinical Trials Based on Genomic Mutilations – Video
• Centers for Disease Control and Prevention (CDC) Genomic Testing
• FORCE (Facing Our Risk of Cancer Empowered)
• Genetic and Rare Diseases Information Center
• Genetic Support Foundation
• Global Alliance for Genomics & Health
• Innovate Clinical Trial Design – Basket and Umbrella Trials – Video
• National Cancer Institute – What is Targeted Cancer Therapy?
• Patient Advocate Foundation Co-Pay Relief
• Patient Advocate Foundation – Patient Empowerment Series – Genomic vs Genetic Testing – Webinar
• NIH National Human Genome Research Institute – Provider Tools, Toolkits & Resources
• Umbrella Trials in clinicaltrials.gov
• World Health Organization – Genetics and Genomics Definitions