Genetic testing for hereditary breast cancer: When should updated testing be considered?
Maria J. Baker, PhD, FACMG, MS, CGC Director, Penn State Health Cancer Genetics Program
Genetic testing for hereditary breast cancer has come a long way since the BRCA1 and BRCA2 genes were discovered in the mid-1990’s. Not only was the patent protection overturned by the U.S. Supreme Court in 2013, enabling other qualified laboratories to offer testing of these 2 genes, but testing is now available for at least 11 other breast cancer susceptibility genes including ATM, BARD1, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53. In addition, the technology continues to improve, enhancing our ability to identify a genetic mistake, referred to as a mutation or a pathogenic/likely pathogenic variant, should one exist in the family.
If testing some years ago did not identify a causative mutation, how does one know whether updated testing is warranted? First, make sure you have a copy of your original genetic test report on hand. The report will not only document your test result, but also the laboratory that did the testing, which genes were analyzed, as well as the specific technology that was utilized at the time. Either your provider or a cancer genetics provider can review the report, possibly contact the lab, and determine if additional testing is warranted where it can justifiably be billed to insurance.
“The technology continues to improve, enhancing our ability to identify a genetic mistake referred to as a mutation or pathogenic variant.”
If some of the breast cancer susceptibility genes were not initially tested, save for NF1 where an affected individual would typically have features of Neurofibromatosis 1 (i.e. multiple café au lait macules from a young age, benign tumors along the length of the nerves called neurofibromas, etc.), it may be time to consider updated testing, especially if additional history of cancer has occurred within the family. Otherwise, it may be difficult to justify additional testing, even though newer technology, such as RNA analysis, may be available that could potentially identify a mutation that may have been missed by DNA testing alone. Fortunately, some labs do offer self-pay options in the range of $249 and many have very generous patient assistance programs.
Updated testing can have a significant impact on one’s medical management if a mutation in the ATM gene, for example, is identified where not only high-risk breast, but also pancreatic surveillance, would be offered. If your testing was completed some years ago, it’s worth asking the question!
No cost genetic testing and genetic counseling are available in PA! Did you know? BRCA-related genetic testing and genetic counseling are available at no cost for Pennsylvanians with state-regulated insurance who are at increased risk of developing hereditary cancers. To learn more about coverage under Act 1 of 2023, visit pbcc.me/Act1.
