Tuesday, August 18, 2015

My Experience with 23andme and Promethease

I think 23andme seems to be the best of similar personalized genetics services because the results they send are very detailed and interesting. It has been really fun to read all the information that they send, learn more about my own genome, and contrast my results with my Grandfather’s, my Mom’s, my Dad’s and my brother’s. It’s kind of interesting that even though my brother and I share 50% of our genes, I am 5 times more Scandinavian than he is, and he is 3 times more Italian than I am. There is a lot to analyze and figure out, and I have learned more about biology in the process. Three pictures are attached below with some of my test results. The testing cost is reasonable and all you have to do is spit in a test tube and mail it back. This is the website:


www.23andme.com









My brother and I have a genetic condition called hemochromatosis. Our original testing determined that we both inherited one bad gene from each of our parents, but we didn’t know until recent further testing that I actually received four bad genes (I am homozygous for both major hemochromatosis alleles). My parents were both carriers for hemochromatosis at two separate genes and I got both of the bad genes (it’s a 1 in 16 chance) from each of my parents. It was through “23andme” that I was able to obtain this information, and I want to recommend it to you.




The FDA recently took away the ability of 23andme and all other genetic sequencing companies to send health reports to their clients. However, we can still use the “raw data” available on the 23andme website to do our own investigating. Clicking on “browse raw data” you can see which version (allele or SNP) of each gene you have. You can then look up your version on snpedia.com to find out more about the health and trait characteristics of your version of the gene. This process is time consuming because you must do it one gene at a time, but I found another reputable company that will do this rapidly and automatically using the 23andme data.




http://www.promethease.com


Promethease Inc. is a popular service that will create a report for 17,000 of our 23,000 genes for only $5. You can obtain this additional service from promethease.com. You actually allow promethease.com to access the 23andme data by signing in to both at the same time. The whole process and the reports are pretty straightforward, but you definitely want to download the data to your computer because Promethease wipes their servers every month. Promethease is reputed to be a very legitimate company and the reports that it provides seem to be more detailed than the other companies that do the same thing. Check out this article on Promethease from MIT’s technology review:

http://www.technologyreview.com/featuredstory/531461/how-a-wiki-is-keeping-direct-to-consumer-genetics-alive


I think it is worth the time and the $5 to use this additional service. The health report that they send gives you all of your genetic risk factors ranked from a magnitude of 1 to 4. I think it is important for everyone to see if they have any 4s, and to inform their health care providers about what they have learned. Again, I found out that I have more than one gene that predisposes me to hemochromatosis (both have a ranking of 4), and this has definitely changed my treatment plan. We also found out that we have genetic propensity for rheumatoid arthritis, and that my mother and brother have a problem metabolizing anti-inflammatory drugs (NSAIDs). Again knowing this is important because now they know to take Tylenol rather than aspirin or Advil.


So far, a number of my friends and family members have done both 23andme and promethease. It is really fun to compare and contrast profiles because it gives you a much better understanding of your own data.
 



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Here is an update from 4/3/2024. I wanted to post a letter that I wrote to a friend in February of 23. I was writing a friend who asked me if I would be a sperm donor. I am including the letter here because I wanted to make it available but not widely seen, so I am placing it at the bottom of a rarely visited blog post from several years ago.


Dear Xxxxxx,

So I have given this whole thing a lot of thought. And it’s been a few months now so I really had a chance to think.


I really like the idea. For a lot of different reasons. I passed the idea by my parents briefly. And they thought it was nice. 


It’s a beautiful concept.


There are some pretty important things that I think you need to know about me though. 


Firstly, I have a genetic disease called hemachromatosis. It has been called the European version of sickle cell. It’s not a huge deal as long as you know you have it because it can be treated very effectively with phlebotomies. Also, you need two recessive alleles to get the disease. So a baby has to get one from both parents. I doubt you carry a recessive allele yourself. And it’s something you could get tested for inexpensively. But I actually have two recessive alleles at two different genetic loci for the disease and I am not sure that is something you want in your line.


Secondly, I’m 41. Advanced maternal and paternal age is associated with increased risk of birth defects, health complications, and mental disorders. I was reading last week that the likelihood of some mental health issues are multiplied by six for fathers over 40. 


Thirdly, and much more seriously, I have been exposed to a great deal of stress in my life. I think it’s fair to say that I have at least a form of PTSD. 


Do you know much about epigenetics? The idea is that certain circumstances, especially high levels of the stress hormone cortisol can change your DNA. It doesn’t actually change the sequence of nucleotides. Instead, it adds metallic molecules to your DNA changing the expression profiles of specific genes. This is done through the process of acetylation and methylation.


I’ve actually done a lot of research into this, and I’ve written hypotheses saying that it’s adaptive. That stress programs our bodies to prepare in various ways for a bad environment. Basically, when stress hormones are high, the DNA is altered, making you act crazy and resulting in a reduced metabolism. These changes could have been advantageous in an adverse environment, but are debilitating in modern times. 


The scary thing is that this “epigenetic scarring” can be passed on to offspring. Meaning, it happens to eggs and sperm. And it can even pass through multiple generations.


So I can’t be sure to what extent this has happened to me, but I believe I can infer that I’m probably a pretty severe case. I’ve been held up at knifepoint and gunpoint. I've experienced a home invasion. I’ve been in fights all through my childhood, adolescence, and adulthood. I’ve been in situations where I’ve almost had to kill two of my friends and a violent assailant. I’ve been in multiple ugly fights just in the last 10 years with large athletic men. Just a couple years ago I witnessed a man attacking a woman and ended up having to choke him out in the middle of the street, surrounded by spectators until the police came. In other words, I’ve had a lot of blood on me and my clothes.


One good indicator for how much stress has affected a man and how suitable he is to be a father or donor is the extent of balding. I have less hair than my dad has now, and I have less hair than either of my grandfathers had when they passed away. So clearly my hair loss is not genetic. Hair is lost when the follicles are exposed to cortisol in a process called telogen effluvium. And the more hair a man has lost the lower his longevity and the higher his risk of cardiovascular and other issues. There’s also a large link between hair loss, PTSD, and other psychiatric disabilities. Basically, there’s no way that my germ cells are not affected by these things.


So I want to be forthcoming about all of this. I assume that once you’ve read this you would no longer consider me to be a candidate. And I understand that. I have all but given up on having my own kids for these reasons. It’s one of the reasons I’m single. But unlike me, you have a world full of options.


All the same it’s a sweet and beautiful fantasy. And it’s been fun for me to imagine it. I’ve been playing out heartwarming scenarios in my head all week. 


If it’s OK with you, I would still like to have our initial conversation. I know it would be a fun conversation to have. Also, I’m interested in the process itself. But most of all, I’m interested in your plans for the future so I can support you in them.


Love,


Jared