There is a third party site which will analyze your DNA test results for health information called Promethease which is FREE until the end of the year as a gift to us from MyHeritage who has acquired that site. You can even upload several tests from different companies for the same person to get a more complete picture.
Looking at your results takes some getting used to. It is a fairly geeky interface but here is a video that explains it.
They only keep the report for 45 days, but you can download it to your computer for future viewing.
Please be aware that the problem with trying to get health results from your DNA test is that so little is yet known. While some of the most damaging mutations are well documented there are hundreds more that might or might not be a problem. Most evidence is from correlation studies which are not necessarily definitive or large enough to be statistically significant.
On the front page you may quickly agree to many terms and conditions but please read and understand this one,
“I realize that most published reports about DNA variations explain only a small part of the heritability of a trait, and they also don’t take into account how different variants might interact. In addition, published reports typically ignore environmental, dietary, microbial, medical history and lifestyle factors, any or all of which may well affect my true risk for any trait or disease. “
Reading some of the information Promethease shows for your genes can be scary but don’t be alarmed. Most of these results are just saying that you might have an increased tendency for a specific condition but please remember that genes have to interact with each other and your enviroment so most are not destiny by themselves.
The live streaming from the MyHeritage conference in Amsterdam this past weekend was both informative and enjoyable. I was even able to watch without getting up in the middle of the night as they stayed available afterwards. Many of the talks included information that was not new to me, although I was pleased to finally be able to watch Leah Larkin’s WATO presentation.
One of the important take aways for me was that if MyHeritage finds a bad mutation in your test, they will use a different method, Sanger sequencing, to confirm the result! This almost completely eliminates false positives. Still if you are diagnosed with a really bad variation, my opinion is that you should double check even further by getting a doctor ordered test like the one from Color Genomics.
Yaniv also emphasized that they have worked hard to present the results in an understandable format. There are some examples of this on their blog (click here).
There is a gene called CCR5 that can have a variation that prevents AIDS. You need to have two copies, one from each parent, to be immune to AIDS. If you have only one copy, your resistance is increased. The current theory is that this mutation became prevalent in Europeans after the ravages of smallpox or perhaps the Black Death and was selected for, since it is presumed protective against those diseases. It is more frequent in Northern Europe than Southern, but is found as far south as North Africa.
from wikipedia – By US National Institutes of Health – National Institute of Allergy and Infectious Diseases – US National Institutes of Health – National Institute of Allergy and Infectious Diseases, Public Domain, Link
The down side is that this CCR5 change may increase your risk of an abdominal aortic aneurysm and put you at risk for complications from various viruses like West Nile or tick born encephaliitis. Wikipedia has an excellent and detailed article about CCR5 here.
This AIDs protective variation is actually the loss of 32 alleles (so it is called delta 32) on chromosome 3 at location 46414947.
It is that change that the Genetics researcher He Jiankui claims to have made on two embryos in China using CRISPR technology which has caused such an uproar around the world. Click here for the NPR article about that which mentions that their father is HIV positive.
If you have tested your DNA at 23andme, you can check your own CCR5 for the delta 32 variation which is known as i3003626 there. Here’s how
Excerpt from the 23andme Reports Overview at Youtube
The price has gone up but so has the amount of information you will receive. Those of you who bought kits after the FDA shut down the health information at 23andme will now get the new improved reports. All of us testers will receive an email once our accounts have transitioned over.
I received 12 emails today announcing this! As soon as any of the accounts I manage transition over to the new software, I will write a report here on my blog. The accounts that already had health reports were promised in the email that they will “continue to have access to [their] current health reports. The new experience will include redesigned versions of many of the same health and ancestry reports that you currently have.”