When considering a genetic test to learn your risk for hereditary cancer, it’s important to consider a few factors when choosing the right test for you. Here are three essential questions to ask when weighing the choices:
- Is the test comprehensive?
Does the test cover the full genes, or just a few mutations?
- Did you know there have been over 5,000 genetic changes, also called mutations or variants, identified in the BRCA1 and BRCA2 genes since they were discovered? It’s important to ensure that the test you choose covers all the mutations that have clear scientific evidence linking them to elevated cancer risk. Even though some mutations are more common in certain populations (for example, there are three mutations that cover about 90% of the mutations found in people of Ashkenazi Jewish ancestry), many more variants than these three are medically actionable and known to increase the risk of cancer. Color’s BRCA Test is comprehensive — it includes full sequencing and deletion/duplication analysis of the entire BRCA1 and BRCA2 genes, and can even detect new and previously unpublished variants, not just the most common ones.
- While BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer, many people don’t realize that several more genes have been discovered to increase risk of these and other cancers. Especially if you have a personal or family history of cancer, you may want to consider broader testing that includes additional genes. Color’s Hereditary Cancer Test analyzes 30 genes, including BRCA1 and BRCA2, that can increase your risk of developing common hereditary cancers, including breast, ovarian, colorectal, or prostate cancer.
2. Are the results medically actionable?
Some tests also include helpful services so you can act on your results, like genetic counseling and easy integration with your provider.
- You’ll also want to know if there are other additional services included with the price of your test. For example, how easy it is to share the results with your healthcare provider so you can work together to make a tailored plan for your care. Do you have access to a board-certified genetic counselor to help you understand the results? And if so, is there a charge? Does the laboratory have a system in place for contacting you if the information related to your results is updated? Genetic testing is complex and involves many aspects beyond just the sequencing of DNA!
3. What technology is used?
Some types of testing, such as next generation sequencing, are more comprehensive than others.
- Not all genetic testing technologies are equal. Color uses advanced, next generation sequencing (NGS) technology that can detect variants from one end of the gene to the other for all of our tests, including the BRCA Test. This powerful tool allows for high quality, accurate, and rapid testing of many genes at one time. By contrast, different technologies such as SNP array (SNP stands for “single nucleotide polymorphism” which means a genetic variant that impacts a single letter, or base pair, of DNA) is limited to identifying only a list of specific genetic variants. One breast cancer advocate has compared SNP-based testing to taking your car to the mechanic to only check for a handful of problems, rather than a full safety inspection of the whole car. Learn more about Color’s methodology and accuracy.
Genetic testing is a personal decision, and we strongly encourage you to speak with your healthcare provider about the benefits and limitations of the available options for you. You can also feel free to contact our team of board-certified genetic counselors if you have questions about Color’s tests. Learning information about hereditary conditions can be empowering and actionable, and it’s important to take the time to educate yourself and take control of your health.
Lauren Ryan is a licensed and certified senior genetic counselor at Color Genomics. Before joining as Color’s first genetic counselor, she worked at the University of California San Francisco’s Cancer Genetics and Prevention Program providing clinical genetic counseling to a large oncology population. She has presented at the National Society of Genetic Counselors meeting and is published in Breast Cancer Research and Treatment, Radiology, and the Journal of Genetic Counseling.