As of 2019, more than 30 million people have used genetic testing companies to learn more about their family members, health information, and even genetic risks. DNA results from these direct-to-customer tests (DTC tests) generally include a raw DNA file that can be uploaded to other sites, allowing you dozens of options in learning about your genetic information. Promethease is one of the many sites that use your raw data file to provide medical information based on your genetic data. Here at Genomelink, we are dedicated to using our knowledge and expertise in the DNA testing industry to help you better understand your genome. In this blog post, we will be looking at how to find and understand the genetic variants of the BRCA genes and others associated with breast cancer risk, using Promethease.
A Brief Overview of a Promethease Report
Promethease is a third-party DNA testing service that accepts DNA data from other testing services to give detailed health reports of how your genes may impact your risk of developing different medical conditions. Their test results use SNPedia, a wiki of research on genetic variants that put a person at high risk for developing certain diseases. This data is based on the specific regions of the human genome where there tend to be differences among people. These regions are called single nucleotide polymorphisms (SNPs) and rather than evaluating your entire genome, DNA testing companies each review specific SNPs within your genome to provide their results. When uploading your raw data to Promethease, only the data from the tested SNPs are included in your data file, meaning your results are based on specific regions of your DNA rather than the entirety of your genetic profile.
Promethease accepts data uploads from several testing companies, including:
Understanding Your Promethease Report on Breast Cancer Risk
Your Promethease report estimates your risk for hereditary cancers and other conditions by evaluating gene variants located on the SNPs available in your raw data file, and associating those variants with known medical conditions based on published research literature. Currently, SNPedia’s database includes over 100,000 SNPs, 2,665 of which are associated with the BRCA1 gene, and 3,175 of which are associated with the BRCA2 gene.
Though there are other genes that have also been associated with increased or decreased risk, BRCA1 and BRCA2 mutations are the most commonly recognized genes that can impact breast cancer risk. There are a couple of different options for navigating your Promethease report to find your BRCA mutations:
1. Use the search bar at the top of your report
By typing “BRCA” in the search field (highlighted in red in the image above), you can find all of the SNPs in your report that mention BRCA. It is important to note that not all of these results are actually related to BRCA genes, as some of them just mention “BRCA” in their descriptions. You can also type in “breast cancer” in the search bar to find all results that discuss breast cancer associations.
2. Use the search filter (located to the right of the search bar) to search by medical conditions
Filtering your Promethease results by medical conditions allows you to view all of your SNPs that have been associated with impacting your risk of breast cancer.
3. Use the search filter to search by ClinVar diseases
The ClinVar setting of your Promethease report allows you to filter your results based on genetic variants that are clinically associated with certain diseases. ClinVar is a publicly accessible database that is managed by the National Institutes of Health (NIH) and tends to provide more reliable and robust results. As demonstrated by the images above, there are a couple of different methods to filter your report by ClinVar findings. You can use the filter field named “ClinVar Diseases” to search your report (top image). Alternatively, you can select the “ClinVar” option at the top of the filter field (bottom image).
4. Use the search filter to search for specific genes
Directly below the “ClinVar Diseases” drop-down menu is a search field labeled “Genes.” Here, you can type a gene of interest to filter your results by a specific gene.
5. Any combination of the above methods
You can combine the methods listed above to narrow or broaden your search results to provide you with the information you’re searching for.
Keep in mind…
Your Promethease report provides A LOT of genetic information that can be anxiety-inducing and difficult to understand. If you have a family history of breast cancer or are struggling to understand your results, we recommend consulting with your healthcare provider, a genetic counselor, or geneticist. It is not uncommon for positive results for BRCA mutations or other cancer risks to be false positives because your SNPs data (raw data file) from your genetic testing company may contain some errors. If you’re worried about breast cancer risk based on knowledge of your family medical history, the surest way to find out is to get tested with your healthcare provider. If you would like to learn more about your Promethease results, you can also check out SNPedia on Reddit!
Alternatively, if you’re simply looking to learn more about what your raw DNA data predisposes you to more generally via Promethease, here’s a simple guide for how to do that.