February 12, 2023
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What Is Promethease? How To Use It To Understand Your Genome -- For The DNA Amateur

A Promethease review: a powerful tool for researching and understanding your genome, but there is a learning curve to maximize its benefit.
Tomohiro Takano

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 genetic 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 DNA 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 genetics 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 DNA 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, unlike many of the larger genetic DNA testing service companies. 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 genetics 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 DNA 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 kits can conduct a DNA analysis and 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 analysis 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 through sites like 23andMe and Promethease 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 through their DNA testing kits. 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 Promethease system properly and how to interpret scientific results related totheir 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.

Ready to Get Your Promethease DNA Report? 

You want to know what you’re going to get when you invest time and money into a product or service. That’s why we made this guide on how to use Promethease - a fascinating (but, for many, often frustrating) tool in the genetic research industry. While Promethease gives users a more targeted, in-depth look at their genomes than other providers, the average amateur ancestry enthusiast might be able to fully understand its complex, highly scientific reports. 

Additionally, Promethease does not offer its own DNA testing kids. In order to access their database and reports, you’ll need to already be in possession of your raw DNA data file from a test provider, such as 23andMe. This is why most ancestry researchers use Promethease as a secondary source of information. 

Keeping in mind that getting the full benefits of using Promethease has a steep learning curve for anyone other than professional genetics scientists, here are the steps you need to take to use Promethease:

  1. Obtain your raw DNA data. This is done by taking a DNA test from one of the companies that offers testing, such as MyAncestry or 23andMe.
  2. Upload your raw DNA data into Promethease’s database. You will need to accept their long list of terms and conditions, as well as pay $12 during this step. 
  3. Receive your Promethease DNA report and interpret it. This is the step that often trips up amateur genome researchers. The reports you get from Promethease, 23andMe, and other DNA services are not the same. Promethease’s reports are incredibly scientific and take some time to understand. 

Once you have your Promethease report, you’ll have access to a range of scientific information about your genetics. By using the numerous filters and tools available on the site, you can search for scientific studies that mention your genetic variants, scientific articles that discuss your variants, and more. The reports can feel daunting at first, so we suggest you use this simple guide to help you get started. 

Is the learning curve worth it to be able to access the information provided by Promethease? That depends on what you’re looking to get out of your DNA research. The science behind Promethease is fascinating (if you’re into that kind of thing), but it can feel overwhelming to users who just want to casually examine their DNA, ancestry, or genome. 

If you’re not into deep dives into scientific information, reports, or articles, you might want to stick to companies like 23andMe, FamilyTreeDNA, or MyHeritage. These sites will give you a less science-y and more simplified look at your genome and ethnicity. Some companies will also provide you with health and wellness information, which is one of the selling points of Promethease, but in a format that is much easier to understand for the average person. If you’re looking to upload your raw DNA data to start exploring reports about your ancestry and genetics, start for FREE with Genomelink. Go beyond ancestry with our easy to interpret reports and in-depth analysis about your genetic story.

Tomohiro Takano
Tomohiro Takano
Co-Founder and CEO