Here at Family History Daily we’ve covered DNA testing for genealogy research pretty extensively, but we’ve always focused on ancestry reports, not health reports. This is because we’ve always felt that the genetic “health” information provided today, which is still very much in its infancy, could be taken out of context and possibly cause distress and confusion to some users. In fact, some data offered by certain websites seems designed to mislead.
However, these reports are becoming more common and many more people are taking advantage of them. For this reason we have decided to cover one of the more respected options so that you have a trusted source to turn to if you decide to explore your own genetic health information.
If you are interested in this type of reporting we encourage you be very wary about who you are giving your DNA data to and how it may be used. Many places now offer free genetic reports, but their history and intent is questionable. The site covered in this article has been around for quite a long time and has a clean record for data use, as well as very strict privacy and data storage limits.
Promethease is “a literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.” In fact, Promethease is a computer program built by SNPedia for scientific research. The information page about what they are and how they can be used can be found here.
In addition to privacy concerns, some people might be bothered by health reports as they have the potential to reveal upsetting information about your potential health. Please remember that your genes are only one part of the picture when it comes to your actual health and that the science behind these reports is developing all of the time. The author of this article, Matthew Gaskill, has taken the time to outline some warnings. Please take them seriously.
Family History Daily is NOT an affiliate of Promethease and we will NOT receive revenue if you decide to upload your results to their site. We are, however, an affiliate partner of 23andMe and they are linked to in this article because they also provide health reports. AncestryDNA, MyHeritage DNA and FTDNA are also linked to when they are discussed. If you choose to purchase a test with any of these companies after clicking on a link on our site we may earn a fee to support our work.
How to Use Promethease to Get a Low Cost Genetic Health Report
by Matthew Gaskill
This is a simple introduction to the use of Promethease, a website which allows you to upload your raw DNA data (which can be obtained from the DNA testing company you sent your sample to – such as Ancestry, FTDNA, MyHeritage DNA or 23andMe), to receive a detailed report of biological traits and predispositions you carry within you.
Your Promethease report will tell you (to the degree it is possible with the limited raw data provided by testing companies) whether or not you carry traits that MIGHT lead to certain medical conditions. Not all diseases or disorders are covered by a Promethease report, but there are a surprisingly large number of them.
Here are some screenshots from a sample report. You can view the entire sample here.
A Few Words of Warning Before Using Promethease
First, while the results of the Promethease report are based on serious clinical studies and research, future findings may prove these results premature or incorrect so do not take them as absolute truth.
Second, many sections of your health report are explained in multipliers based on averages. For instance “7x risk of male baldness.” Does this mean that I am or WILL be bald? NO. It means that compared to the population studied (in this case, men in the United States) I have a higher chance of becoming bald. I am 55 and have a full head of hair, as does/did literally everyone in my family, alive and dead. Though baldness is hardly serious, you can see that this example can apply to more serious conditions as well.
What follows is a very important point. Do not ignore this advice: If you are curious about your DNA makeup and what traits/tendencies it may carry, you may indeed want to upload your data to Promethease and received their medical report. However, I would highly recommend a few days of serious reflection before you do this.
If you are a person who is subject to any type of hypochondria or excessive worry, I would think twice before running my data through Promethease. If you are not a worrier, you should still give careful consideration to whether or not you wish to find out what possible medical traits you carry.
The Promethease report is not to be taken lightly.
It is also highly recommended that you discuss the results of your Prometheus report with your physician. If your physician is not familiar with this type of DNA science or report, ask he or she if they know another medical professional who is. When using Promethease, prior knowledge and research is key. Your report should be read with a level head, with prior knowledge of your own (and family’s) medical history forefront in your mind.
As you read your report, remember this: in many cases, some of your “bad” and “good” results will likely be offset by their opposites. For instance, in my case, Promethease gives me a better than average chance of developing heart problems based on certain DNA findings. Conversely, other DNA findings show that I have a better than average chance of reacting positively to “good cholesterol” in a way that is a positive for my heart health. As with your DNA genealogical findings, your Promethease results might leave you with more questions than you had when you began.
Why doesn’t every DNA company offer medical reports?
In the last 10 years or so, the study of DNA genealogy has exploded. Most people submit their DNA to companies for the reason of finding out more about their particular family and or ethnic heritage. In some cases, people submit their DNA in order to find birth parents or other long-lost relatives.
Initially, when 23andMe first advertised their DNA analysis they included a small number of examples of inherited DNA traits and /or relatively rare medical conditions for the consumer to analyze. However, in a number of instances, people jumped to the conclusion that because they had the remote genetic possibility of developing a certain disorder or disease, they were now certain to get it or had indeed already gotten it.
For this reason and others, the United States Food and Drug Administration (FDA) prohibited 23andMe and other US-based genetic analysis companies from releasing to the public any medical information based on the DNA that had been supplied to them.
Over the course of a number of years 23andMe lobbied the FDA, improved their methods and research, and in late 2016 was once again allowed to release a limited amount of information regarding medical conditions based on DNA testing.
However, even today in the spring of 2018, the information released by 23andMe regarding genetic predispositions carried by their clients is still relatively limited. The medical conditions and traits listed by them are for the most part very rare and cover only (at the time of this writing) forty-two conditions/syndromes. That is not to underestimate their importance to those who might carry the traits of those disorders, but still, we are talking about a very small percentage of the population at large.
In their advertising, 23andMe emphasizes the genetic ancestry and ethnic aspect of their services and the medical detection aspect of their service remains in the background. Other information regarding DNA traits has to do with taste, hearing, etc. For example, it has been found that people with certain DNA traits find the taste of cilantro pleasant, while others do not – not exactly earth-shattering information!
However, the FDA does not have jurisdiction outside of the boundaries of the United States. So, for a number of years, users of DNA analysis companies have had the ability to upload their raw DNA data to websites/organizations based outside of the United States. The most prominent of these is Promethease.
So, how does Promethease work?
Promethease is a byproduct of SNPedia, a wiki project designed to record all of the relevant research data becoming available regarding human genetics.
SNP stands for single nucleotide polymorphism. What are SNP’s – or “snips”? Very simply speaking, nucleotides are the building blocks of both DNA and RNA. Polymorphisms are the variations within these single nucleotides. The structure of these polymorphisms determine certain traits and their likelihood of occurring.
For example, rs10805007, is present in those of European descent with red hair. It also marks an increased sensitivity to anesthetics, and perhaps an increase in the likelihood of melanoma among Europeans. The “Rs” in these codes stand for “reference SNP cluster ID.” Within your Promethease results, you will be able to click on the SNP’s listed and read the information in greater length on SNPedia (which also lists the scientific references/papers used to gather this information).
How To Upload Your DNA to Promethease
Uploading your raw DNA to Promethease is very fast once you’ve downloaded your raw data from your DNA testing company of choice. For help with that you may want to read my article about using GEDmatch, which gives instructions for finding this raw data.
First, upload just the text file you downloaded from your DNA testing company (not the entire .zip file). You can do this by choosing the green “upload raw data” option shown below.
Once your data is uploaded, you must pay ten dollars to receive your report. Once payment is processed (via Paypal or credit card), you can open your report in your browser. Be sure to your download your report so that you can access it after the forty-five day period that Promethease stores it on their server.
When you receive your Promethease results, you will have the opportunity to run them through various filters in order to weed through the tremendous amount of information that you are given.
The simplest of these filters are “good”, “bad” and “no value.” Depending on whether you’re an optimist or pessimist, you may want to look at good first or bad first. On the “bad” side, your Promethease report will tell you whether or not certain parts of your DNA precondition you to have cancer of various types, Alzheimer’s disease, stroke, coronary disease, and various mental illnesses. Remember to take this with a grain of salt and combine this with prior knowledge. In my case, I have many indications that I will get Alzheimer’s – I also have many indications that I won’t. Additionally, no one in my family has ever developed the disease.
For the purpose of this article, I will describe the quickest and most general way to get an overall picture of your Promethease report. Once you are familiar with the report, how the filters work, and what they mean – and have become familiar with many unique terms you will discover in your research — you can move on to the more esoteric and/or difficult filters, graphs and subjects.
Understanding Your Promethease Report
Go to the top right of your report and click on “categories.” A separate window will appear that lists the topics within your report, a list of medicines, general medical conditions, and ClinVar conditions (see definitions at the end of this article).
The first thing I would do is NOT to start looking up things like “cancer,” or “heart disease.” I would look at the category called “medicine” and look and see if any of the medicines I took were on the list, and/or if you knew there were other medicines used for medical conditions that you have. In my case, I found that the anti-depressant I was taking before I read my Promethease report was not as effective as others I could be taking instead. In consultation with my doctor, I switched, and the result was significant. The medicine listed by Promethease was indeed better at treating my depression.
The second thing I would do? Go through your report and scan it – don’t let yourself get too bogged down in the details, and don’t get all tangled up in outside studies (for now). Make sure you’ve not only looked at your “bad” report but your “good” one, too. If you do this two or three times, you will find that you’ve developed an overall mental picture of your DNA medical traits and some of the conditions that you may or may not have a predisposition for.
In my case, one of the things I noticed was that “age-related macular degeneration” kept coming up – with not only frequency but seriousness. This condition can lead to blindness. I now get my eyes checked regularly – not just when I remember to every few years.
Some of your discoveries on Promethease might help to explain why you behave in the way you do. This is the whole “nature/nurture” thing. I am not one who believes that DNA “forces” you to do anything, but it does predispose you to certain things.
Knowledge is power. If you are aware of certain behaviors in yourself, you can do things to alleviate them or their frequency. In my case, I am blessed (I use that term sarcastically) with the so-called “Warrior Gene” – some people think it’s a great thing to have. It is not. Believe me.
When I took the Promethease report as a whole it provided a better picture of my health and DNA traits than if I focused on specific things. As always, use the information contained in this report in conjunction with prior knowledge of your own/family medical history. For instance, I knew from family history that heart conditions are a serious matter for me to pay attention to. Promethease reinforced this – strongly. The same with certain types of cancer that I know a parent and/or grandparent had.
In many cases, it’s good for you to take some of what Promethease tells you with a grain (or two) or salt. For instance, my report states that I carry traits that indicate the development of a certain cancer, however, the study cited for this shows that the clinical study group was Chinese men. Do I share DNA traits with Chinese men? I certainly do – but I differ enough to take this study at face value, and I don’t panic, especially when this is the only study cited in the Promethease report.
Make sure that you read your “good” traits too. You will see that in many cases, Promethease cites studies that show certain people with certain traits react well to various things – like exercise, certain diets, etc. This is information that can mediate some of your feeling of unease when looking at your “bad” traits.
Once you are familiar with the navigation of the Promethease page and have familiarized yourself with some of the more difficult terms, do some experimenting. Change filters, look around and use the information you glean to visit other sites. If you’re like me, you will be amazed at the knowledge you have gained about yourself.
My Takeaway from Promethease
Did Promethease change my life? Yes and no.
Did it make me more aware of my medical conditions and any predispositions I might have lying within my DNA? No, not really – I already had a general idea of this from a good knowledge of family history. However, it did help me focus on areas that I need to keep in mind as I get older, like a tendency towards certain types of cancer (bladder, testicular, prostate) that I already knew I was at risk for.
All things considered, I highly recommend Promethease. Just bear in mind: nothing in your Promethease report (except perhaps your blood type) should be taken as complete truth. It should always be paired with other reliable knowledge and your doctor’s advice/input.
Please see the International Society of Genetic Genealogy’s Wiki for a glossary of terms to help you decipher your reports.
Matthew Gaskill holds an MA in European History and writes on a variety of topics from the Medieval World to WWII to genealogy and more. A former educator, he values curiosity and diligent research. He is currently working on a novel based on his own family history.
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1 thought on “How to Use Your Existing DNA Test to Get a Low-Cost Genetic Health Report”
I must say I think it is a little bit reckless to recommend promethease as a general tool for self-genetic analysis. It is a growing problem with people making wrongful inference on their own consumer genetics. And promethease have some severe analytical problems that they are not fixing, mainly that they are a one-snp-at-the-time analytical setup. This will work *only* for rare genetic disease, and yet they pitch themselves with results for a long range of common polygenic disease like schizophrenia, cancer, crohn’s, stroke and many others. Despite their citation-links this is outright wrong and in contrast to *all* contemporary genetic research. Look up concepts such as polygenic risk score. I can provide some very nice links on self-analysis if you want, but I don’t want this comment to be seen as counter-promotion – just a word of warning on the problem of giving this kind of advice.
ISOGG – the international society of genetic genealogy have some nice articles “DNA in health and disease” if you want to read more balanced opinions.