How To Check Yourself For Abnormal Genes

AnneWoahHickey writes "While the State of California was harassing personalized genomics companies, and hindering the development of personalized medicine, Wired was preparing a guide to genetic testing. It explains how to make sense of the massive sets of raw data offered by 23andMe or deCODEme, and a way to check yourself for genetic abnormalities that are not covered by microarray tests. Facing a medical community that is fiercely resistant to change, the fate of personalized medicine is truly in the hands of consumers."

DIY? Really?

[FlyingBishop]

"Design and Order PCR primers and controls"

"You'll need a cloning kit"

"Copy the DNA with the PCR reaction"

"Sequence the amplified genetic material."

While going to specialists sounds reasonable, we've only just reached the stage where testing large numbers of people is feasible, and only really through DNA microarrays.

The idea that you could do it yourself using methods invented in the mid-90's methods is just silly.

just laid that out there huh?

[CupBeEmpty]

"Facing a medical community that is fiercely resistant to change..." really? Thats a bold claim to make especially considering the amount of medical research that happens in this country.

Measurement doesn't entail understanding

[Lhooqtoo]

Services like those mentioned in TFA may be able to provide information on which genetic variants a person carries, but will not interpret those results. Non-scientists, and even scientists seem to over estimate the ability of modern genetics to assign meaning to common genetic variation. Your average M.D. when confronted with a print out of a patients 'mutations' would be completely unable to make heads or tails of them. There are few instances such as cystic fibrosis, where the etiology is well known, and known mutations WILL cause disease. In other cases such as BRCA in breast cancer, 'mutations' are risk factors for disease. In the vast majority of cases, modern genetics has no idea what a 'mutation' at rs39842093 might actually do. These services are expensive, ambiguous, and require a certain measure of vanity on the part of the consumer. If you have a family history of disease X, there may be a small number of 'mutations' for which you might be tested that could actually impact your future health, and those services are provided by someone other than 23andMe. Biology is a bit different than technology in that observing that biology works does not imply that someone knows how it works. (Creationists can bite me.)

Re:How would you tell a significant other

[Bieeanda]

If you're at the point where you're discussing the strong possibility of starting a family, you owe it to your partner and yourself to be completely open about your medical history and that of your ancestors. Waiting until after what many people consider to be the point of no return is grossly unfair to your partner and the potential child.

You're Missing the Point

[MaizeMan]

The average person, no. The obsessed amature with training in a closely related enough field to be able to follow protocols precisely (any branch of biology and a lot of chemistry), with enough money to afford these supplies (probably dozens of times over given how finicky PCR can be even under controlled laboratory conditions) would probably genotype themselves for 5-10 alleles. But I think a lot of people are missing the point of this article. It's not that everyone could do it, or even anyone really SHOULD do it. It's that these techniques have become simple enough and cheap enough that people who are sufficiently interested can do this at home. It's the same reason people install Linux on their toasters, or mod a 360 into a laptop, not because the end result is that useful, but because it's so cool that they CAN.

waste of time and money and psychic energy

[peter303]

Most abnormal genes arent expressed for unclear reasons. You just spend money on useless information and mental energy worrying about the results.

Re:Important caveats

[ultranova]

More importantly, if you find out that you do have abnormal genes, and nonetheless say that you are healthy to the medical insurance company, have you just committed a fraud, and can the insurance company deny a claim on that basis ?

People forget...

[Kensai7]

People forget that genetic counselling is much more than simply "checking some polymorphisms". But even if you ever get results by deCODEme or 23andme, these results are numbers and you need to make sense out of them using sensible statistics to quantify the real danger of developing a disease.

That's extremely difficult especially for multifactorial maladies which environment plays a major role. If you want serious answers get a professional explain and investigate, don't simply rely on DNA companies.

In other words, it's not that the medical community that is "fiercely resistant", but because the questions that need to be answered are much more than percentages.

Counseling is the key

[DrYak]

Why don't you tell me why I need someone with an MD behind their name to tell me what a standard output from a machine which takes a centrifuge of my spit, processes it through a standard chip and pulls out my dna composed against probable issues I could have, which THEN I can do a high-end explicit test from an MD afterwards?

You don't need the MD for the actual processing of the sample. As you put it, a monkey could do it.
You need the MD for the counselling that goes together with the result giving. To avoid people misinterpreting the results, putting wild theories because one test came back as positive, or to notice that the patient is too much distressed after some news and might be at risk of doing something crazy.

You also need an MD to discuss before hand of the utility of the test, their significance, what they are *actually* going to bring, dispel false beliefs or flase hopes the patient may have, etc.

In short, the MD is not here for the test, but for everything that comes around it.

People keep on forgetting that these test are never set as a be-all, end-all for probable medical conditions and therefore you use this as a stepping stone to check out things further.

The problem is, if you don't regulate thing a tad, there are bound to be companies that will try to profit by selling their results *AS the ultimate end-all* and who are going to profit from all the gullible idiots who'll believe them.
You're a /.er. You're a geek able to understand what such tests might mean. Believe me : 90% of the patient stepping inside a doctor's office aren't.

The worse is : by believing that these test are end-all, the clients of unscrupulous test-seller could jump to conclusion and do really, *really* silly stuff.
The world is full of very ill-informed patient who read random junk on the net and distrust all doctors because none of them agrees with what the patient thinks having understood.

This is a paternalistic approach but until you have something better to propose, it's the simplest thing to avoid problems.

But I personally think that this is a little bit too restrictive. The technology should be sold as home-use kits to everyone, as long as the buyer has received proper counselling before hand by the doctor, the licensed reseller or the pharmacist which provided him the test.

I can understand if they were falsely advertising themselves as a substitute to the ultra-stringent high-end tests used for serious conditions, but as long as they aren't, this is anti-american as it gets.

Trust the human greed. If nothing forbids it, someone is bound to try it.
Even if it is not actually written on the box (that would be false advertising), some company will definitely try to make sure that the buyers think it.

It's the SAME DAMN THING!!!

Except nobody has commited suicide over a air pressure level. Yet.

Disclaimer: IA*A*MD, and although I currently work in research, I have met lots of the gullible patients putting more trusts into random pieces of junk they read over the intertube than into people with several years of study and several years of experience who are trying to help them.