2/14/2017

23andMe: I got my Genetic Test Results -- Surprise!

In December of 2016, I ordered a genetic test kit from 23andMe.

I ordered the Ancestry report, though I was also interested in looking for health markers. However, the Ancestry report was $99, and I discovered before ordering that 23andMe was prevented from most diagnostic health analysis by the U.S. government. It seems there are some markers that are very strong indicators of a person being a "Carrier" of a condition through hereditary means, but other genetic markers are unclear. Fortunately, 23andMe provides a solution for this, of sorts -- "raw data" downloads.

[UPDATE: FDA Approves 10 Genetic Tests for 23andMe -- see below.] 

I got the test kit in about a week, or maybe less. It was a small white box with a couple of instructions in it. A plastic bag. And a plastic test tube with a flip cap on top of it. The flip cap had a liquid in it and a membrane holding the liquid inside.

The instructions said to fill the vial up to a certain line. I don't know why so many people complain about this step. Really it wasn't that much saliva. It only took a minute. Once it is at the fill line, you are supposed to close the flip cap until the membrane snaps and the liquid drops down. The liquid did not drop down on my sample very well, so I had to coax it out with a loosening of the lid and re-tightening. Then you shake it up, and put it in the plastic bag. 


The 2nd component of the setup process is to register at the 23andMe website. It doesn't appear that the person ordering the kit has to have anything to do with the registration name or ID. But it does ask for your name and some other information. I forget. There are privacy concerns associated with this type of testing -- we are entering a whole different era of uncertainty. But I think I've already gotten the brunt of my genetic health concerns, so, who cares?!? Once you match the special test kit number to the 23andMe database registry, you're all set. Seal up the box, and stick it in the mailbox.

Then you wait.... And wait... And, other than a couple of emails, it takes about 5 or 6 weeks. I sent mine in the first week of January and got the test results in the first half of February. I found them before I got the confirmation email. There is a sort of progress bar on the site that shows you what is happening with your tests, but it just kind of hangs after the first week. Anyway, I got it. Woo hoo!

My ancestry is mostly what I expected, but not exactly. The website shows you a few different charts that don't make sense at first, but after a bit of analysis and interaction, it becomes clear. 

The first is this pie chart and map. 


The pie chart colors match the colors on the map. And the size of the slices represents the percentage of each color on the map. So, the majority of my ethnicity is European! Only by a couple of points though. Most of that is British-Irish (mom always said Scottish & Irish), and French-German (mom always said her grandmother had some German in her family, and that she was gruff and kind of mean. Haha. They tend to live into their late 80s. There was some Broadly European on there.

The other side is my father, who came to the States from the Philippines via a U.S. Navy recruitment program. I'm not close with that half of the family, in large part beause of the distance. I've only met a few relatives from there. One just died. They all seem to live into their 90s. The only other thing I know is that my grandfather on that side was Chinese. Or so I thought. According to 23andMe, I'm only about 6% Chinese, and the rest is mostly Southeast Asian. It seems the Pacific Islanders are not separate from the Vietnamese or Laotians or whatever else lives in the lower Far East.

What I am not is Japanese, Korean, Australian aboriginal, Eastern European, Northern European or Southern European, North African or Middle Eastern; nor am I an Iberian (which seems to be the marker for Spanish ancestry). I thought the latter might show up because the Spanish occupied the Philippines in the 1600s. Perhaps, that extra 2% represents the Spanish component -- who can say for sure?



The are a few tiny surprises.

1) A Native American ancestor. Supposedly lived in the 1700s. Now, this is unexpected -- welcomed, but how odd that it's less than 1%, and 23andMe seems so certain about it. "All we can tell you is what the tests indicate," they say. The sort of funny thing about Native Americans is that they fall under the Asian category. One assumes that this is from the theory that American Indians came from Asians who crossed the Alaskan Land Bridge and moved south for thousands of years.

2) A South Asian -- this would be from the country of India, as opposed to American Indian. Or perhaps Pakistani, or Bangladeshi. No way to know.

3) One tiny smidge of African. I love it. Really, I don't have to be disappointed and say, I have zero-point-zero percent recent African ancestry. Nope: 0.1 percent, thank you..


There are some other aspects of the 23andMe test -- Neanderthal Ancestry, and Haplotypes. I can't say I understood much about these two. Apparently, ancient humans mixed with neanderthals to a small degree, while they were coexisting in the Middle East region. So, they have a way to test for Neanderthal roots. And mine appears to be less than others. The only signal I seem to inherit from them, it to have a less hair back -- yay. The Haplotypes give a sort of pathway back through the weave of human tapestry. A single thread traces back like 15,000 or 20,000 years. And mine seems to go back as far as the Near East. This means that I and many other people are direct descendants of someone who once lived in the Near East. There are different ways to trace this on the mothers side from mitochondrial mutations, and in the father from the Y chromosome. Mmmmokay. 

This begs the question: Why does the genetic test only go back 200 or 300 years, when anyone who believes in science to any degree understands that we descended from early human-like creatures, and they descended from early ape-type creatures, and they descended from some type of small mammal, and they descended from some type of amphibian, from some type of fish, from some type of very basic one-celled creature. We all started the same, wherever you want to define the beginning of humanity.

So.... I dunno. I guess, part of me wanted to see more -- to know more. To have an animation show me how my family might have migrated around the world. I can only trace the mother and father -- and they are from opposite sides of the earth. I can only imagine that the next couple of generations will have even more mixed up DNA. My nieces, for instance have a Puerto Rican mom, so, wow! Would love to see their mix. I'm happy I did the test, but want more.

The website does allow registered owners to answer a whole lot of questions as a volunteer for research. They also allow you to see your distant relatives. This, again, is a privacy and security risk for reasons that have yet to emerge in the tech world. I suppose my genetics will escape and be out on the internet for ever soon. Heck, I may even post my own ZIP download of my raw data some day. I don't really care that much. Nothing to hide. Genes are genes. You don't get to choose them -- though, you can choose to alter them now, thanks to CRISPR. Yoinks!

I did take the raw data and uploaded it to Promethease.com. And for $5 more, I got another ZIP download that included a HTML web site that can be browsed on my own computer privately. They say they do allow your to see your data online for 45 days, but that they intend to delete all data, but no guarantees. Again, who cares. The Promethease analysis mostly matches the 23andMe markers against known generic variants and markers. The strongest one said I have the lowest risk for Alzheimer's. The 2nd strongest one said I'm at risk for male pattern baldness. Gee, too late. Interesting that it said that, though. There were lots of other indicators both good and not so good. Many of the things it touched on are known to my family, though some are not at all. 

The problem with knowing this stuff, I suppose, is that this subjects you to having "pre-existing conditions" which make it really hard to get healthcare coverage here in the U.S.A. We currently have Obamacare / The Affordable Care Act which mercifully prevents insurance companies from excluding people who have had illnesses. But, now we don't have Obama anymore, and Master Cheeto has put into place every manner of antagonist against fairness and equality and access for healthcare and business and education. Don't let me get started.... 

All-in-all, I LOVE THE 23andMe TEST RESULTS. 

Seriously, get it done. It's super. And a gift of knowledge for both me and my family.


UPDATE: 3 months later 

On April 7, it was announced that 23andMe was finally approved for 10 tests to "assess genetic risks" for:
  • Parkinson's disease
  • Alzheimer's (late onset)
  • Celiac disease
  • Alpha-1 antitrypsin deficiency
  • Primary dystonia (early onset)
  • Factor XI deficiency
  • Gaucher disease type 1
  • Glucose-6-phosphate dehydrogenase deficiency
  • Hereditary hemochromatosis
  • Hereditary thrombohilia

The first three sound most appealing to the broadest user base. I don't know if that means I have to get tested again. Or if I would need to pay the extra $99 to get the additional set of health test results. I don't think I have any of them, but I'm sure it's a bargain for people who do have reason for concern.

The other thing I learned last month was:

I'm related to British Royalty!

I looked up the maternal haplogroup -- J1c2c. It's a mitochondrial mutation that is passed along the maternal side of the family tree. The last two Kings of England, who were from the Plantagenet dynasty, were brothers. King Richard III was killed in battle and, whatever is true about his time as ruler, his body was found a couple of years ago, and genetic testing was done. My haplogroup is closely related to his mother, and grandmother, and great grandmother, etc. So, at some early point, I was a member of the Plantagenet lineage, but not directly related to Richard, because he had a specifc mutation -- J1c2c3. It was exciting for a day. But since neither he, nor his brother had any children, it's not like my mom's family would have been direct descendents of the throne. [Whomp-whomp.] 

Anyway, fun info -- I never would have known. Get your own 23andMeTest.

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