DTC Genetic Testing

Spurred by weird family lore, generic curiosity, and a good dose of always wanting to take things apart to find out what they're made of I decided to turn to the Direct to Consumer Genetic Testing.

I know I'm quite late to this train, but then again I don't consider myself rich. As such it's probably worth pointing out since 2012's end 23andMe's autosomal DNA test has cost only $99, being cheap enough to no longer count as luxury. It's equally worth pointing out that to much of Europe the postage costs are another almost 100 dollars, and shipment by DHL may require setting apart significant amount of time for receiving and sending the test kit back yourself.

In my case, I decided to take the day off work when I was called that the courier would drop the package "somewhere between 10am and 4pm". Having dealt with DHL before I know I could've just called them to arrange delivery at my workplace instead, but I wanted to avoid all the hassle and was eager to get my hands on the sample kit. Plus, somehow I expected them to drop it in the morning so I could head to work for the rest of the day... In the end it was closer to 5pm before the courier called me to inform me he couldn't find my address, something that's become something of a running gag with deliverymen as of late...

Dropping off the sample kit was a different matter. 23andMe uses saliva for the testing, the amount of saliva they ask - 10 ml - sounds little and easy to provide, but I can confirm it can be little challenging, even if you do have 30 minutes before the stabilizer should be added. I expected there to be some kind of a snap or other indicator of when the tube was securely closed, but found nothing like that, while worried the plastic tube would split if screwed on too tight - a clear design fault in my opinion. According to 23andMe's instructions, I should've now taken the sample to DHL's main offices - a trip that would've taken most day and come at significant extra cost.

It didn't help that the package contains a scary paper intended for the local DHL main office entitled "Attention DHL Express Operations Personnel - PLEASE READ", declaring that the "exempt human specimen" conforms to all IATA regulations and does not require UN3373 packaging as per Restricted Commodity Group registration number so-and-so etc. On the waybill it's carefully labeled as "exempt human specimen, plastic test tube and inert buffer".

Emboldened by Google search results telling me everybody just had DHL come and pick it up for delivery I called DHL to ask whether they would pick it up. The conversation with their customer service went somewhat along the lines of "Hello, can you come pick up a package for delivery?" "Is this a delivery or are you expecting a package?" "A delivery." "What's the customer number?" "I don't have a customer number, this for a company called 23andMe and... " "I need a customer number."

Thus I desperately looked the waybill over, trying to find something that looked like a customer number. "Would Payer Account Number do?" "Oh yes, tell the Payer Account Number." Ah now we're making progress... "What's in the package?" Okay, I guess this is where I'd be expected to sprung that scary letter detailing what's in it, besides I wasn't altogether sure how I should translate "Exempt human specimen" into Finnish. "Well, you see this is for a company called 23andMe and..." "I guess you didn't hear, what's in the package?" "Uh, a sample." "Ok... sample." I'm guessing they had a little different idea of "sample", but I suddenly decided it was not worth it to try to explain.

 To avoid a repeat of the experiences with the initial reception of the kit, I arranged the shipment to be picked up at my workplace. Since we regularly deliver products around the world from the office, I made it clear to DHL that this was a private shipment that had nothing to do with the company and they should ask me by name to pick it up. Needless to say, when the courier came to pick it up, he just announced "Picking up a package for DHL". The secretary scrambled to fetch the CEO to determine just what we were expected to be shipping that day. Luckily enough I was positioned close enough to the reception that I heard the commotion and took care of it.

Two days after picking up the sample shipment, DHL called back saying that customs clearance required my Social Security Number. There was a space for it on the DHL waybill, however according to 23andMe's instructions it didn't need to be filled. Apparently, the customs had decided otherwise. Naturally there was no way really to verify that the call was from DHL, but I suppose whoever called at least knew I had recently shipped something by DHL. I can see this being a big sticking point for many people looking for personal genome services.

There are a couple of ways to avoid most of the hassle (besides, of course, living in the USA). One is using services from Family Tree DNA, who have subsequently changed their autosomal DNA testing price to $99 to match 23andMe's price. I did not order from them and thus can't vouch for them, but according to their site shipping is by standard USPS first-class mail at $7 to most locations globally. Not sure that contains return postage.

So why not use FTDNA services? First reason is for genealogy each service matches only against their own userbase, and FTDNA's is much smaller. Also, FTDNA doesn't do health-results at all, although you can look them up on many free services, and doesn't test for many of the conditions 23andMe does. Their "Ancestry Origins" feature is much less developed than 23andMe's, and they specifically do not determine the maternal and paternal haplotypes; for that you need to order alternate tests from them.

For me that was enough to stick with 23andMe, but for others FTDNA could be enough. Both services will let you download a file with your SNP's and genotypes, which can be used at other services existing and yet to come. My own unusual verdict is that as a direct to consumer service 23andMe's test is too complex, too much hassle for the international people to consider as a real commodity, but if you're willing to jump through some hoops it's still the more advanced and feature-full alternative.

So there's my experiences with the test itself; hopefully they will help someone stumbling here by Google considering what test to take and what to expect.