18 August 2013

Can't spell Promethease.com without T-E-A-S-E

When you get into the meat and potatoes of genetic genealogy, you will find there are many good DNA tools that can help you in your research. Some require your raw results added to their servers, others have a tool you download and use on your own. Some share your information with others, some don't. I could spend every day talking about all that is out there for you to explore.

But I won't.

I'm actually getting ready for a break from DNA. I've been working so hard on it for so long that I think I'll go insane soon. I've upgraded my brother's FTDNA kit to an autosomal test and with that and my maternal cousin's test, I've not only been comparing our matches, but also mapping our shared segments. My parents share a line (or two), so there is expected overlap. But I figure where my brother and I share a segment and my maternal cousin doesn't is a good place to start for paternal matches. It's still possible the segments are part of the shared line or maternal material my cousin didn't get, but there has to be something that is exclusive to dad, right? I mean, what are the odds that I got only his mother's DNA? Things to make you go crazy.....

Which leads me to my last DNA post for a bit. And I promised to tell you about a tool that cost you only $5 and was a bit of fun. I will warn it may drive you crazy if you let it. The website is Promethease.com. What does Promethease give you for $5? Well, you upload your raw results and they spit back a chart of the good, bad and indifferent in your DNA. You see, ever since we could code DNA, scientists have been researching what segments control what in our bodies. So there are thousands of published works on cancer risk, heart disease, mental issues, immunities, drug interactions, etc. and this tool tells you what studies have said about alleles you carry in your DNA. Now, does that mean you have or have the potential to have a disease listed? Meh. This isn't a medical test. It's using published work that may or may not have a bias in it's research. If you're looking to solve medical mysteries or gather information prior to having children, go see a medical professional and get a "real" test done. If you just want to have a bit of fun, let's hop right in!

So I ran the tool and got my results in about 10 minutes. After playing around a bit to see what I was looking at, I reviewed my results:

My Good
  • I have a lactose tolerance due to a European gene. Cool. I like milk.
  • I am difficult to hypnotize. This is true. I have actually had people attempt to hypnotize me with no success.
  • I have a resistance to HIV. Now, this one is awesome, because the theory is that this is actually an indicator of immunity against the plague. I apparently would've had to have had a relative who contracted and survived the plague in order to have this passed down to me. I've also done my maternal cousin's results and he's got a higher frequency than I, which means both of his parents carried this allele, whereas only one of my parents did.
  • I have lowered odds of going bald. Good to know. Oh, but my bad includes increased risk of baldness. Well crap on a cracker.
My Bad
  • Increased risk of cancer (breast, lung, and prostate). Weirdly, I have also a decreased risk of cancer in other alleles. So this one's a wash, apparently.
  • Increased risk of diabetes. I'm pretty sure my obsession with fast food and aversion to physical activity increases my risk of diabetes anyway.
  • Increased risk of Crohn's and IBS. Interesting considering those diseases do actually run in my mother's side.
  • Increased mental disorder risks including dementia, bipolar disorder, depression, and suicide. On the other hand, some of these are also linked to higher intelligence and creativity. Well I am awesome. Sometimes crazy awesome.

My Indifferent
  • Once again, this tool tells me my eyes are blue. I've already informed the creator that my eyes are brown.
  • Sensitivity to sunlight. I do burn easily. I avoid direct sunlight like a vampire.
  • I have impaired motor skills. I don't know about that.... well, my reflexes are a bit slow. And sometimes I'm a klutz.... but "impaired"? little harsh.
  • Loss of short term memory. This one yes. A thousand times yes. It's not an all the time "Finding Nemo" Dory thing. But I do have trouble retaining information the first time through. And names? Forget it. If you tell me your name, I've already forgotten it before we're done with the handshake.
  • Curly hair. Nope, straight.
This is just a small portion of the report. You get a zip file that has the report itself, then there is a data folder that will show you medical conditions, how medicine affects you, and other things studies claim to have found that are a bit complicated. Each one of these results will come with a link to more information about the allele and the studies that "found" these conditions. Read the studies. Like I said, some will have a bias in their research. Just like any other source, you have to evaluate the informer as much as the information. That's why this should be a "just for fun" kind of thing. If you're one of those people that worries over every news story about Ebola even though you weren't anywhere near the outbreak city (or state), then don't use this site. You'll just worry over every little thing. To be sure, I'm no more worried about my risks of heart disease than I was before. And I'm not going to start kissing rats or engaging in risky behaviour just because I'm supposedly carrying a plague/HIV immunity. Again, if they can get my eye color wrong, how right can they be about my arthritis risks?

When it came to this tool, I found myself interpreting the results through what I already knew about my family medical history. And maybe that's the best way to look at it. I mean, ideally I should be using the information to find new clues to unknown issues, but I get less stress by just using it as a confirmation of what I know. In the medicine interactions area, it suggests that I have an increased risk of liver damage if I use Tylenol. Well, I do use Tylenol. So should I stop based on this test? Not really, no. I had an injury that sent me to the hospital right after I received my results. The doctor told me to take some Tylenol and rest until the pain went away. I asked him if I could take aspirin and he said that it would thin my blood and that was a greater risk to my condition at the time. After talking to him about my Promethease results and reading the studies involved, I've not changed my Tylenol routine. But I will admit that sometimes, right before I take that little pill, I hear a voice in the back of my head saying, "We really need to switch it up every now and again. Just to be safe."

But then my short term memory fails and I forget all about that silly little voice,
-Ana

4 comments:

  1. This is the first time I've completed reading all your posts. I am sad to see that you will not be posting again soon. Out of all the reading I have done to help me digest all the DNA information out there, yours was the best. It really did help me understand. Thank you and I hope you will decide to keep this up. Denise

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  2. So the things that can be verified were incorrect. If your profile can't get something so basic as your eye color or hair texture correct, how reliable can it be? How can you be sure that the analysis was accurate or that it was even your DNA that was analyzed?

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  3. Anonymous14/1/14 09:17

    The reason there are different and conflicting results at different gene locations is understandable, because there are many different genes that influence any particular measurable condition, such as eye color. For example, the finding is that so and so gene was found in people with blue eyes, more often than not. Statistically, these calculations give you an answer that is like a prediction. You have this gene result, therefore, its likely you have blue eyes. However, your eye color is determined by a bunch of different genes, like other measurable traits or conditions. Most traits and conditions are this way. The state of the research is quite early, so all genes which influence a trait have not been found. The statistics are valid- the finding is that this particular gene appears to have some influence on the trait of blue eyes. What you can't say is how, or to what extent, this gene influences blue eyes. Other research can go further in deducing particular relationships between genes and their functions. For exmaple, acetaminophen (Tylenol) sensitivity could be a trait that is highly gene regulated- perhaps a single protein which catalyses the breakdown of acetaminophen. In this case the SNP could have discrete effects such as efficiency of the enzyme in detoxifying the drug. In which case, the result of a higher probability of acetaminophen sensitivity should make you think twice about taking Tylenol vs. an alternative, and certainly be aware of taking too much.

    In conclusion, the implications of different genes on your choices and behavior should be evaluated on a case-by-case basis with regard to the research related to the functionality of the gene. And people are not typically trained in the background necessary to interpret the results themselves. But as a rule of thumb, if the results indicate negative consequences for something, you should be prudent and avoid it.

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  4. Thank you Anonymous so much for detailing the correct explanation into the important statistical calculations that need to be taken into account.

    To add to that from a firsthand account here is an example. I know at age 49 that I have never had or shown signs of Cystic Fibrosis, but after receiving my data from Promethease I found out that I am in fact a carrier of CF. What does that mean? Do I have it, can I spread it? Am I going to die? No, No, and someday, but not from CF. All it means is I am a carrier of one copy of the gene, but when I research it and dive deeper, (Doing the fun Hard-work) I found that if my sons mother had a copy also, then my healthy 21 year old son would have been born with Cystic Fibrosis, we were lucky. Had I known this back 20+ years ago, it would have been a discussion which would have lead to testing to make sure my partner did not also carry the gene.

    If you have a concern, do the research on the SNPs and then really dive into the references. I set the parameters of my search to minimum of 10 references with a magnitude of 2 - 4, narrows it down to a more digestible amount of info. Then you can see what really stands out, also you begin to see patterns and connections to other genes good and bad. It gives you more of a path of direction to focus on. Once you have a small list of concerns then without freaking out just bring it to the attention of your Primary Care Physician and they will take it from there.

    Oh, I have brown eyes, but my report says blue eyes also twice, but it also says brown eyes. You just cant see Cancer or Blue eyes and rush to judgement. Remember just one word when it comes to our bodies, while remembering that everything works together, in most cases without one organ another or many, if not all cannot function. SYNERGY!!! Synergy is life.

    Try to look at the bigger picture and not focus on one word or name on the list in your results, the results are exponentially synergistic. It would cost thousands of dollars to really break down your report even further, that's why it only costs $100, it is just raw data, it is up to you to now to do the work. This is not for everyone, some just cannot wrap their minds around this stuff. Just remember... Your genes don't lie!!!

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