Using 23andMe Files to Extract Your Personal
Health Risks and Pharmaceutical Risks
(This page is under construction.)
Here are some suggestions and precautions that you can use to reliably extract your personal health risks and your personal pharmaceutical risks from the raw data in a personal DNA scan.
One of the most valuable types of information that is contained in your personal genome file is your likely responsiveness and risk of side effects from many different medicines. You never know what kind of medicine that you may have to take in the future. In the coming years, medicines will seldom be prescribed without a physician first consulting the patient's personal genome records. You can jump into the future, and get a look at how this information applies to you right now.
You can also obtain an immense amount of information about your other health risks. The information is so massive that you may feel overwhelmed by it. By following the information on this page, however, as well as some of the links provided here, that sense of being overwhelmed can be minimized. It is not difficult to begin to understand the basics of what genomics and DNA is all about and where the useful information comes from.
In the process of extracting and understanding this information, you will learn and begin to understand some new words and some new sources of information. Many people would say that you have to learn all this new stuff first, but that is just not true. You will learn as you go along, and you will be more motivated to learn because you will be discovering things about YOU.
The age in which we live (and probably at any time in the future beyond this point) will require that we continually learn new things.
There used to be a quaint phrase about someone having "competed their education" at the time of a certain graduation event. That quaint phrase no longer applies, and it never will apply again to any living human as long as they live. If you are reading this, then you must have learned the basics of using a computer. Learning the basics of DNA is no more difficult. Just as you didn't need to understand all of the details of how a computer works in order to access this web page, you don't need to know all of the details about how DNA works. (Nobody really knows that in any great detail yet anyway.)
There are several possible ways to extract the health information from your 23andMe file. Most of those methods also apply to the DNA files obtained by Ancestry.com, Family Tree DNA, deCODEme and others. I personally suggest using Promethease, which is software that can be run from the web. At the time of this writing in January, 2014 the cost to run Promethease is $5 (five U.S. dollars) payable through Amazon. If you have purchased anything from Amazon, you use exactly the same method of payment.
Promethease has been around since the beginning of 2008. It has undergone dozens of revisions. The person who wrote the Promethease software has some instructional videos on YouTube. At the time of this writing, the latest one is a 23 minute and 38 second video which is at:
There is a brief 2014 update (3 minutes and 51 seconds long) to the above video at:
If you have no familiarity at all with genomic terminology, then some of the information can appear very strange and daunting at first. Once you are looking at your own information, though, things usually start becoming clear fairly rapidly.
It does take several minutes to complete the software analysis, even with the accelerated paid Promethease report, because you are processing an enormous amount of information. In the first video, it says that it takes about 5 minutes to process the information, but the current version takes about 15 minutes because of the increased amount of data involved. If you have a slower internet connection it could easily take several minutes longer. (I would not recommend this process using a dial-up connection because certain steps would take hours.)
The above video shows how to download your personal file from 23andMe after your DNA scan is complete. This file has about a million SNPs. SNP is an abbreviation for single nucleotide polymorphism. It is always abbreviated SNP and pronounced snip . SNPs have information in the following form:
rs12345 (Y, Z)
The rs part of the designation stands for reference SNP. The rs number (where the "12345" above is just an example) is assigned by dbSNP, a database managed by a division of the United States National Library of Medicine.
The two letters in parenthesis after the reference number are the alleles, which will never be Y or Z, but will be represented by the letters A, C, G or T. These are the four bases of human DNA. You don't need to know what these letters stand for, but they are abbreviations for adenine, cytosine, guanine and thymine. Each SNP will have two letters. One letter is inherited from your mother and the other from your father. An exception is the SNPs on the Y chromosome, which is only possessed by males, and which is only inherited from your father. Therefore, Y chromosome SNPs only have one letter (A, C, G or T), although some reporting systems repeat the same letter twice in order to simplify their computer database systems.
An exception to the A, C, G or T indication in a SNP occurs when you have an Insertion or a Deletion at certain points. This is represented by the letters I or D. The I or D is generally the result of Copy Number Variations or CNVs. Copy Number Variations are common in certain sections of DNA. They do not necessarily indicate that anything is wrong, but CNVs do cause variations between individual humans.
In a few very rare SNPs, you may find a hyphen or dash where an A, C, G or T should be. This does not indicate anything about your DNA. It just indicates that the genome testing service failed to measure anything at this particular location.
For an excellent introduction to genomics and tutorials on the basics of how DNA works, see the outstanding Learn Genetics site at the University of Utah, which was named by Science magazine in January, 2010 as the best science education site of the year.
If you want to see a comprehensive Promethease report for me from 2012, you can follow the links to the SNPedia reports on my DNA scans linked from my Public Genome Page on SNPedia.
For more information about how to read a Promethease report, you can read this SNPedia Promethease Page, or watch one of Mike Cariaso's YouTube videos on Promethease, such as the one mentioned earlier.
Jerry Emanuelson's email address is: email@example.com