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.
The talk that impressed me the most was the one by Yaniv Erlich in the middle of day 2 about the DNA health results that MyHeritage is now providing (on a reduced price sale just through Tuesday, Sept 10). With the acquisition of Promethease and SNPedia they have greatly expanded their access to medical genetic knowledge. SNPedia is always my go to resource for looking up specific genes, for example click here to see what it says about the BRCA genes. While Promethease is where you can upload your raw DNA from wherever you tested to get health results (sadly written in formal medical talk) based on current but not always solid research (see comments below) and is linked to SNPedia.
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.”
Blogger Andrea Badger published the following report on the DNA-NEWBIE mailing list: