You probably already know about BRCA1 and BRCA2, the genes that cause the majority of inherited breast cancer. These genes were identified in 1994 and 1995, and DNA testing has been available since 1996 through Myriad Genetic Laboratories in Salt Lake City, Utah. Researchers at several institutions were in the race to identify these genes. Mary Claire King was the first to report linkage of the BRCA1 gene with breast cancer in 1990. In 1994, Mark Skolnick and his colleagues were the first to sequence BRCA1. Skolnick and the researchers at Myriad were the first to file a patent for both genes, giving exclusive rights for testing. In 2013, this exclusivity changed with the landmark Supreme Court decision Association for Molecular Pathology v. Myriad Genetics. Now other labs are able to test BRCA1/2 and other genes that cause inherited breast cancer predisposition. Many of these are being offered in a panel format where multiple genes are tested simultaneously. Keep in mind that BRCA1/2 still make up the majority (60-70%) of inherited breast and ovarian cancer. But with all these new options, it is a whole new frontier of genetic testing.
So in light of all these new options, how can you be sure you are getting the best quality of testing with the lowest out of pocket cost? Is testing at one lab the same as testing offered by another lab? There are many factors to consider:
Do you have an accurate and complete family history? This will allow a Genetic Counselor to assess which genes are most appropriate to test for your family. You will need ages of diagnosis and types of primary cancer. If there are unusual cancers such as glioblastoma (brain cancer) or thyroid cancers, these could indicate another gene beyond BRCA1/2. If you have a general history of breast cancers and there is a high chance of genetic mutation, but BRCA1/2 testing was negative, you might consider further testing for other genes.
When do you need the result? If you need results quickly to help make a surgical decision, you might not want to pursue some of the larger panel tests with multiple genes. Some of these have turnaround times of 12-16 weeks and would not lend helpful information for your clinical management in the short term. Right now, testing of BRCA1/2 and a few smaller panels can be done in 2-3 weeks, so you and your doctor can use this information to make decisions such as breast conservation versus mastectomy.
What kind of pre-authorization support does the lab have? Part of receiving timely testing is having your insurance provider authorize the test before it is started. Pre-authorization lowers the chance that you will get an unanticipated bill for several thousand dollars. Labs vary in their efficiency and success with pre-authorization.
What is the rate of uncertain results? In any genetic test that involves sequencing, there is the small chance that the lab will find a Variant of Uncertain Significance (VUS), a change with limited information on whether or not it is associated with an increased risk for cancer. Genes that are more recently identified can have higher variant rates, so panels with many genes can lead to higher variants.
Overall, you will want to test the genes that are relevant to your family, seek the lowest variant rate possible, obtain good pre-authorization support if you plan to use insurance, and ensure that the turnaround time for results is compatible with any clinical management decisions that you and your doctor plan to make. All of these choices may seem overwhelming, but genetic counselors are available to weigh the pros and cons of each option.
There are many more genes to come. It is a great time to research your family history if you have not already. Be aware of any testing you may have had in the past and the possibility that testing options may have expanded since that time. You can check with your Genetic Counselor to see if any new options are available to you, especially if your family history changes. If you donâ€™t already have a Genetic Counselor, there are several options locally in the Greater Cincinnati and Northern Kentucky area. If you live elsewhere, you can go to www.nsgc.org and enter your zip code or city to find a Genetic Counselor specializing in Cancer.
Genetic Counselors in Greater Cincinnati and Northern Kentucky
TriHealth Cancer Institute at Good Samaritan Hospital and Bethesda North Hospital: 513-865-5578
Cincinnati Childrenâ€™s Hospital Medical Center, Burnet and Liberty Campuses, The Christ Hospital Cancer Center and The Center for Women’s Health at Mercy Hospital Anderson: 513- 636-4760
St. Elizabeth Healthcare Edgewood and Ft. Thomas locations: 859- 301-5396