What Is Promethease? How To Use It To Understand Your Genome -- For The DNA Amateur
Promethease.com is a website that allows you to research your genes using the entire power of the world’s combined research institutions. A Promethease report is a secondary report you can choose to purchase after you have had your DNA tested by most major DNA testing companies. Companies like 23andMe or AncestryDNA usually give you access to download your raw data file. For $12, Promethease will analyze this genetic data, and connect you to all of the scientific research which has been done on the genetic variants you carry!
What is Promethease?
In Greek mythology, Prometheus molded humanity out of clay and gave humanity fire to start their technological advancement. Likewise, a Promethease report compiles all of the genetic variants found in your genetic data. Then, it allows you the tools to research the scientific papers which have reported results about specific variants you carry.
Promethease generates a report using genetic information found on SNPedia.com. SNPedia is essentially a Wiki for genetic mutations and variants, and it is constantly updated with new and recently completed studies reporting on genetic variants.
To generate your Promethease report, the program scans your raw data file to assess which variants of certain genes you carry. It matches the name and location of this variant to an agreed-upon naming system set up by professional geneticists. Using this standard nomenclature, it can search through the published data on SNPedia to find which of your variants have been implicated in studies.
But, Promethease has some limitations…
Unlike the primary genetic testing company you used, Promethease does not offer or promise to reduce complex scientific topics into material anyone can understand. Most of the reports are so complex, you would need to be a professional geneticist to fully understand them. Plus, many of the reports on Promethease may be false positives - essentially saying a variant is correlated to a condition, when in fact it is not. This is largely due to the fact that not enough research is being done yet.
You should also know that because Promethease only connects users with readily available research, they avoid any role in interpreting or delivering health advice or diagnosis. Thus, they are not monitored by the FDA for the services they offer, like many of the larger genetic testing service companies are. For instance, offering a nice visual on your chances of getting Parkinson’s disease is nice, but it is actually interpreting a very complex set of data. Just know, if you use Promethease, you are diving into the very complex world of academia.
That being said, there are some very cool things you can find on Promethease.
What Can I Find with Promethease?
A typical Promethease report will seem unruly at first. There are dozens of filters, a plethora of tools, and access to hundreds of scientific articles. You can use SNPedia to learn how to use Promethease, or you can check out this simple guide to see how to get started.
Using the Promethease tools, you can see how many scientific studies have mentioned your genetic variants, and how important the studies are. For example, you can use the Magnitude tool to search for the most popular and relevant studies, based on user votes. Depending on the genes you carry you can have associations with things like Alzheimer’s disease, breast cancer (BRCA genes), high blood pressure, or a wide variety of other conditions. Take a look at the sample report, below.
Understanding the Science
What’s actually happening behind the scenes of all this complex data is actually pretty cool. A human gene is a sequence of molecules, called nucleotides, which connect in a long chain with other genes to form a DNA molecule. Each set of 3 nucleotides is called a ‘codon’. Many codons together form a gene: the blueprint for a protein molecule.
Proteins can serve a structural function, or they can change other molecules by breaking them apart or putting them together. Following this genetic code, your cells create the protein machinery they need to function and survive. Each gene can have a genotype: a set of genetic variants you inherited from your parents. Your specific genotype can produce different versions of a protein, which can interact differently with the environment. DNA testing services can measure your genotype and a literature retrieval system like Promethease can curate a DNA report specific to the medical conditions related to your genotype.
Humans have 46 of chain-like molecules (chromosomes) in each cell that carry all your genes. In all, these chains contain around 3,000,000,000 nucleotides. However, because we are all descended from a common ancestor, we share about 99.9% of those nucleotides. Thus, between you and another person only 0.1% will not be shared, or around 3,000,000. These places are known as single-nucleotide polymorphisms, or “snips” (SNPs). These SNPs are commonly correlated to disease, wellness information, and are the basis of ‘health reports’ from DNA testing companies. Other companies can conduct whole genome sequencing, which can read all of your nucleotides and create a much larger DNA file.
Unfortunately, even the best genetic testing companies test less than 1 million SNPs. For example, 23andMe tests somewhere close to 700,000 SNPs. That means there is a lot more variation in the genetic code to be researched. Further, it also means that your raw DNA data file is only a tiny fraction of your DNA. You could easily have mutations outside of these measured portions which may negatively affect your health or put you at increased risk for a particular condition. If any of the reports you find concern you, discuss it with a doctor or geneticist, who can analyze your medical history and family history to more accurately assess your risk.
The Bottom Line...
Companies like 23andMe, FamilyTreeDNA (FTDNA), or MyHeritage can provide you a pretty graphic and an ultra-simplified look at your genome and ethnicity. If you want to take a deep dive into how your genomics may influence your health conditions, Promethease can put you on the ‘front line’ of science. Here, you can dive into the complex conversation scientists in the United States and around the world are having about genetics.
But, users should learn how to use the system properly and how to interpret scientific results related to their DNA test before they take any action on this health information. You may want to consult a genetic counselor if you think you may be at a high risk of a serious medical condition. See this blog post for a specific example of how to locate specific genetic health risks.