Several companies offer DNA sequencing to the home consumer. One of the better ones is 23andme [yes, I did get my DNA tested by them]. For $99 and a vial of spit this company will tell you about your probable genetic ancestry (Neanderthal? European? Native American?) and genetic disease risks.
If you have a college biology background (or had a good high school biology teacher) and read the provided information carefully, then this site provides lots of good information that would be very difficult to get from your doctor's office. For example: are you thinking you might be a carrier for a genetic disease like cystic fibrosis? If you went to your doctor's office you could get this information (and, if you're thinking of reproducing and cystic fibrosis runs in your family you SHOULD talk to your doctor about the risks before reproducing!). But at 23andme you can get results for 53 different inherited genetic disorders that you could pass on to your kids without having yourself. Key word - COULD.
What about breast cancer risk? Yep, you can find out if you have any of the most common genetic mutations for BRCA genes. This is what prompted Angelina Jolie to undergo a double mastectomy. Key word - RISK - these genetic mutations increase your risk, they don't guarantee that you'll have a problem.
The real problem comes in interpreting the medical data. It isn't easy, unless you have a lot of specialized education (and sometimes even then!). And this is why the FDA is getting involved. They are wanting tighter regulation over your access to this information. Is this a good thing? Or a bad thing?
Most people could look at my Gallstone Risk level (which is 1.52x normal at a four star confidence rating) and understand that a 20% chance of getting gall stones also means an 80% chance I WON'T get gallstones. This fits with my family history, so I will keep this in mind and I'll avoid fasting or trying to drop weight quickly since these can trigger problems with gall stones.
But not everyone has a strong understanding of genetics and someone else might find a single gene mutation that a single, poorly done study suggests indicates an increased risk of Alzheimer's, and then they have a nervous breakdown worrying about it every time they forget where they put their keys.
Here's a first person account of someone who found out he had a genetic mutations that causes a form of muscular dystrophy. Or so he thought. Tl;dr? Turns out he's a carrier (which means he could pass it on to a child) but there a glitch in the way the data is acquired that led 23andme to think he had the disease. He did a lot of research and found the problem himself but it did cause him a great deal of stress and worry.
Here's a first person account of someone who found out he had a genetic mutations that causes a form of muscular dystrophy. Or so he thought. Tl;dr? Turns out he's a carrier (which means he could pass it on to a child) but there a glitch in the way the data is acquired that led 23andme to think he had the disease. He did a lot of research and found the problem himself but it did cause him a great deal of stress and worry.
And THAT is what the FDA is upset about. And rightly so.
If you get results from a company like this that say you're going to be sick (or die) you NEED to go to your own doctor for confirmation. The company may be wrong. False positives can and do occur and there are lots of studies out there that HINT at associations that may or may not be real. [so why isn't the FDA going after the mammogram industry? They have an inexcusably high rate of false positives - but that's a rant for a different time]
If you get results from a company like this that say you're going to be sick (or die) you NEED to go to your own doctor for confirmation. The company may be wrong. False positives can and do occur and there are lots of studies out there that HINT at associations that may or may not be real. [so why isn't the FDA going after the mammogram industry? They have an inexcusably high rate of false positives - but that's a rant for a different time]
So what is the solution?
I don't know.
Ideally we would have a better form of informed consent and everyone who participated would completely understand the risk of bad information. I doubt that will happen.
Probably the FDA will try to shut down 23andme, or only allow them to release the ancestry information and none of the medical information. But it's a tricky case for the FDA to make. I don't think the law is completely on their side and 23andme might be able to fight the FDA in courts and win. We'll just have to wait and see.
Oh, and my results? That's a personal question! But I will admit that I am 3.1% Neanderthal. I guess that explains that one quirky trait...
;)
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