Our genetic tests:
Empower you to make informed decisions about your health.
Most cancer is known as sporadic cancer. This cancer occurs in people who don’t have a family history or changes in their DNA that would increase their risk for cancer. On the other hand, hereditary DNA changes are present since birth and some of these changes can increase the risk of developing cancer. Our tests look for such cancer-causing changes (pathogenic variants) in certain genes.
Pathway Genomics genetic tests screen a number of known genes related to hereditary cancers. The goal of every test is to determine a patient’s risk of cancer. This knowledge can help your physician to develop the appropriate or preventative treatment plan for early detection. If the results of your test indicate an increased risk for cancer, your doctor may order tests like mammograms, colonoscopy and CT scans for any possible diagnosis and immediate intervention.
This test is not for everyone; only high-risk patients should be tested
If you are undergoing hereditary cancer testing, you are typically considered to be at high risk. Consider these examples of a person at high risk:
- Brenda has two family members on her mother’s side who developed breast cancer under the age of 50
- Matthew’s mother was diagnosed with a rare cancer (ovarian cancer)
- Mackenzie has many family members with colon, rectal, and endometrial cancer at a variety of ages
Guidelines regarding who should be tested are in place because of the importance of the results and what it means for you and your family. Learn more about screening and cancer treatment guidelines.
There are multiple syndromes that cause hereditary cancers. The most well known is Hereditary Breast and Ovarian Cancer (HBOC) Syndrome. This condition is caused by changes in a gene that significantly increases the risk of breast, ovarian, and many other types of cancer compared to the general population who don’t have these changes.
Some other syndromes we test for include: Li Fraumeni, Cowden Syndrome, Familial Adenomatous Polyposis and others. Each syndrome can be attributed to changes in different genes, which increase a person’s risk of a variety of cancers.
A negative result means that no clinically significant change associated with increased risk of cancer was detected in the genes tested.
If you are the first family member to be tested and have not had cancer, this does not give a clear picture of the risk for other family members. If you are the first family member to be tested and have had cancer, you are still at high risk for a hereditary syndrome, although it is unclear what is causing that cancer. In this case, your doctor will still manage you as a high-risk individuals and a high-risk family.
A positive result means that the laboratory tested your genes and found a change that significantly increases your risk for cancer. With this result, your doctor will manage you with screening, medication or perhaps even preventative surgeries. This is also helpful for your family members, as they can be tested for the same change that was found in you to determine their risk for cancer. This single-site testing is faster and more inexpensive for all family members.
Variant of Unknown Significance (VUS) Result
A VUS result means that the laboratory detected a change in tested gene/s but the clinical significance of the variant is unknown at the time of testing. The change could indicate an increase in the risk of cancer or it is a genetic change that is not clinically relevant. Genetic discoveries occur every day and sometimes there is a change that is found where no prior research exists or there may even be conflicting research. If you receive a VUS result, your doctor will manage your cancer care based on your personal and family history.
If you’ve received a VUS result, Pathway Genomics may offer free genetic testing for your family through the Familial Studies Program. Find out how to participate in the Familial Studies Program.
Pathway Genomics offers a complimentary Familial Studies Program to help understand the significance of these genetic changes, and how the patient and family members may be affected.
Classification of genetic variants is re-evaluated either every six months after last classification or when new scientific evidence is available, whatever happens first.