Cheap genome maps--under $1000?

The big hype this week in genetic testing comes from the addition of yet another company to those hoping that we are so interested in learning about ourselves that we will fork over $1000 (or $999 or $985 at a discount) for a map of our own genome.

Here are some things about this subject you might want to know:

1. How do you take a sample? You won't know the details until your kit arrives, but you will most likely learn that the sample will be saliva or a rubbing from the inside of your cheek. You don't have to provide a blood sample. If the company info doesn't provide clear enough instructions, be sure you rinse your mouth well before taking a sample; you'd probably hate to pay $1000 for the genome of that beef or corn you just ate.

2. What are you consenting to when you provide a sample? In one case, you have to give your name and an address (e-mail?) before you get to read this part. I chose not to give my name, so I couldn't see the consent form. The other company's pages took a while to load (maybe it's my machine), and I found them quite lengthy when they did arrive.

To get the sample kit, you have to give a mailing address; one company requires you to certify that you actually live in the state to which the sample kit is being sent.

3. Will your information be protected? Because I couldn't see the consent form on one site, I would have to rely at the moment on a news release advertising one genome company. It states that the "founders say the personal data in their system is secure and under the user's control, protected by more than a dozen levels of authentication and encryption from the lab to the user" However, the article also likens the result posting to "a kind of genetics-focused MySpace or Facebook". In my mind, these sites are for sharing information with others, so there's some confusion in my mind about whether the company expects people to want to protect their privacy or to share their results. The website promotes adding other people's samples to the order as well as selling family members on the idea.

The other site I checked has a full service agreement and consent. If you're used to just checking "I accept" on these, you may want to check out what you're agreeing to before you do. Lots of legal stuff.

3. What will the results look like? Your genome map will not look like James Watson's or Craig Venter's. The map is based on SNPs, not full DNA sequencing. Here's what one company does:

Your DNA is washed over a small microchip-like device that contains short strands of synthetic DNA. The synthetic DNA fragments latch onto the pieces of your DNA that are a complementary match. Then a laser-scanning step reveals which strands of synthetic DNA are stuck to your DNA to determine your genotype. The chip used in our process . . . reads more than 550,000 SNPs (single nucleotide polymorphisms).

A SNP is a single nucleotide variation, such as a guanine instead of a cytosine. Your "map" will be only a fraction of the 10 million SNPs that are estimated to be in the human genome.

Oh, and by the way, you can see your results only online and the company always has access to your information. Otherwise, how could they provide "updates" based on your data? Check out the computer requirements for viewing the data. I didn't know that Adobe Acrobat Reader 9 was out yet and I know that "player" programs have to be frequently updated.

4. What do I really learn? Be prepared for a disappointment. Although you will receive results for "nearly 600,00 datapoints", you still may not know much about your present or future. One company focuses on 14 "known" conditions, including dry vs. wet earwax, and the other company features 17 conditions. Is that what you expected?

And, finally, what I always say about genetic testing. Before you order a genetic test, figure out what you are going to do with the results. Then, spend your $1000 if you must. It's not my children's heritage.

Marie Godfrey, PhD

 

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