A start-up company in Silicon Valley has released a test which will allow prospective parents to find out if they are carriers for genetic diseases. The company, Counsyl, tests saliva samples submitted by customers for the genetic mutations associated with 100 rare genetic diseases, including Pompe's disease, which is featured in the film, "Extraordinary Measures."
Besides being easy to do (DIY sampling at home), the test, called the Universal Genetic Test, is also relatively inexpensive- $349 for an individual, $698 for a couple. The company's 29 year old Chief Technology Officer, Balaji Srinivasan, is quoted in the New York Times as saying, "The goal is not to maximize revenue but to bring the benefits to humanity,” he said. “Nothing is more relevant than making sure your child doesn’t die from a preventable disease."
The test, which the company publicized heavily last week when "Extraordinary Measures" was released, has been offered mainly by fertility clinics, who use genetic testing to screen embryos before implanting them during in-vitro fertilization (IVF). Embryos which test positive for a genetic disease would not be implanted.
But the test is also available directly to consumers over the Internet. The proposed advantages of this is that individuals could get information about whether they carry DNA which would increase their risk of having a child with a genetic disease. The test is limited to only 100 diseases out of thousands of genetic diseases, however. Also, carrying a marker for a disease does not mean that it would be expressed, or if so, in any significant, noticeable way. Indeed, according to the New York Times, "Counsyl executives say 35 to 40 percent of people tested are carriers for at least one disease in the test. In about 0.6 percent to 0.8 percent of cases, they say, both members of the couple are carriers for the same disease."
Counsyl's at-home test, and other DNA tests like it, gives consumers direct access to their DNA information without providing genetic counseling about what their true risks would be. As a result, some people may decide not to have children at all, or may choose to go through IVF so that only "healthy" embryos are implanted. That sounds dangerously close to eugenics.
It's not even clear how accurate the test is. According to the New York Times article, Counsyl has not published any scientific papers about its results, and the test has not been scientifically validated by external reviewers. The FDA does not generally regulate home-based DNA testing.
While a innovative idea, Counsyl's test brings up many ethical issues. It may also be a false promise to those who think they will be guaranteed a healthy baby after getting back normal results. By providing consumers data without context or counseling, this may be a case of giving people more information than they know what to do with. Or as Albert Einstein said, "A little knowledge is a dangerous thing. So is a lot."
© Linda Shiue, 2010
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Quite a few companies offer genetic testing via the internet, for a fee. Counsyl is one of the companies I was aware of. To my knowledge, the majority of these companies simply provide information based on DNA samples and do not provide any counseling. Navigenics does their testing in conjunction with a doctor, however. And Navigenics and Counsyl both advertise health insurance coverage of their testing services. Places like Knome, Inc are offering comprehensive genetic analysis, including analysis of your genetic heritage, and they do provide 'counseling' via communication with a staff scientist. 23 and Me, probably the most popular and inexpensive option for internet personal genetic testing, offers online tutorials about genetics and makes an effort to explain how their tests are validated for accuracy. No counseling, though.
Stephen Pinker had a great NYTimes piece about his personal genetic testing, showing how the results you get may affect your psyche...
Also of note: The Personal Genome project is being run using volunteer samples, for the purpose of furthering science (by making data publicly available).
As for Eugenics, certainly an interesting ethical question to ask in this age of genetics-technology...not sure these tests cross that line right now, though.
Rated!
I'm always fascinated by how out technology impacts human evolution. Especially when we limit access to assisted fertility, genetic testing and the reproductive options it implies, and so on to certain socioeconomic strata.
Fascinating post!
Seriously, that's pretty straightforward. I think most people are intelligent enough to understand it without having to pay extra for counseling.
My sister has CF. I'm probably a carrier. I welcome anything that makes it easier and more affordable to find out for sure whether I am and whether my husband is.
PS: I know many people who would NOT want to know if they have a gene for Alzheimers. Is that one of the diseases tested for?
Thanks to aliquot for the Steven Pinker reference, too.
Alicia, Aliquot, and Anthropologist Underground: I appreciate your added scientific input, and information about other internet providers of genetic testing.
Ali512 and WendyO: Yes, the the tests offered by Counsyl are all for diseases with recessive inheritance patterns. They are intended for people of reproductive age, male and female. While most of the diseases tested for are catastrophic and usually lethal, some are not. For example, the test includes tests for Factor V Leiden, which is a cause of hypercoaguability (increases your risk of spontaneous blood clots). While having this information would be helpful to know (for example, some people with this gene mutation would need to be put on aspirin or other blood-thinners in certain circumstances), there is no reason that carrying this type of gene should lead a couple to decide not to have children they would otherwise have wanted. Without a genetic counselor to walk them through this, that would not be the best outcome of self-initiated testing. It also tests for sickle cell anemia, which can certainly be devastating, but many people live with the disease or the trait and live productive lives. This is my main issue with this kind of testing-- I fear not enough information would be provided for such nuanced issues. Also, the website talks about the testing as a "cure" for genetic diseases which otherwise have no cure. The "cure" they promise is by preventing people from being born with these diseases. That is where I feel uncomfortable.
WendyO, there are tests out there to find out your personal risks of certain diseases. The most famous, 23 and Me, was co-founded by the wife of Sergey Brin, Google's co-founder. Sergey Brin has been outspoken about his own results, showing that he is at "increased risk" for developing Parkinson's Disease (though it cannot tell him that he definitely will or not). People will obviously respond differently to living with that kind of information, and this is important to consider before submitting oneself for this kind of test.
KarenW, with all my statements about genetic counseling, I am sorry you had such an unhelpful experience. As with all professions, not every individual is equal.
In Australia (the first article I pulled off the internet) prenatal screening for Down's Syndrome has resulted in 75% of fetuses with Down's being aborted and a 60% drop in the number of babies born with Down's Syndrome. One can assume that in America (England, France, Germany, etc, etc) the rates aren't dramatically different.
Eugenics has become ingrained in normal medical practice. No one likes to talk about it because many women who would never have an abortion in other circumstances would choose to terminate a pregnancy if the fetus has genetic abnormalities.
Eugenics is a funny terms to use here, is preventing the birth of disabled children wrong?
As the Father of a daughter who died at age 3 due to a series of birth defect issues, I would have liked to have the choice to skip the experience. It may sound callous to some and despite loving and caring for Emily, she really had nothing resembling a life.
Did it make us better people? I don't think so, we divorced a few years after her death, and the child we had afterwards was not brought into a home of happiness but one of nervous distrust that the gods had tricked us again.
It may not be a perfect tool, but it is a start.
Rated
The only danger with deliberate selection of offspring would seem to be when it is taken out of the hands of individuals. We saw this occurring in most Western nations at some point or another in the 20th century through the sterilization of the mentally ill or disabled. This is obviously intolerable, but only because it interferes with the autonomy of an individual. If a person chooses not to have children out of concern for their future health and welfare, I can't see that as unethical. It is only when someone else is making that choice that problems arise, in my opinion.
the cost of perfecting it will be borne by the customers.
just like any other product.
This could save a lot of needless pain and heart ache.
why take a chance with a life if the outlook is bad?
Too bad it's more important to shoot holes in sand and bail out criminally negligent banks than to pevent pain and suffering.
If this test is accurate, then it is reasonably priced. The normal cost for the equipment and chemicals used in such tests is quite high, and reputable labs may charge 300-1000$ for a single test -- a whole panel for that price is even better. We should expect to see prices continue to drop as the technology improves.
What type of technology being used for this test? It is quite possible that a written report generated by a good test would accurately quantify patient risk. Of course it would most always be better to get the advice of a good genetic counselor in addition, but not everyone has the same need for such advice.
The FDA thing is a problem, and the way around is that many labs are certified by professional associations and/or state regulations, for example the State of New York requires strict protocols be adhered to.
There are certainly some unreliable and fly-by-night outfits involved in genetic testing. Buyer beware, especially when extraordinary claims are being made.
All kidding aside, I don't see how this has anything to do with eugenics. No one is encouraging or discouraging people to reproduce based on these test results, and what people decide to do on their own is their own business. I'd say it's better than what's reportedly regularly going on in China (gender selection), or the rumors of parents being able to select hair and eye color for their "designer babies".
Some people have children knowing that they are both carriers of a horrible disease, and that their children will almost certainly develop it; others facing the same situation will choose to adopt. Some people feel that they are able to cope with having a child with such conditions, care for them and love them and make them happy. Others know that they would not be able to do so. I know which choice I would make, but I don't think we'll ever allow anyone else to presume to tell us what we're allowed to do reproductively. And if a healthier society is the unintended eventual result of our own free will, how is that a bad thing? As long as no one is being forced, strongly encouraged or discouraged into choosing a certain way, isn't that a natural and positive result? Or should we pass laws now to ensure that some children MUST be born with terrible, painful, debilitating, fatal diseases to parents that may or may no be able to handle it?
It should also be noted that, given the global nature of today's society, it is unlikely that eugenics would ever be a real concern. The same laws would have to be implemented everywhere, as inevitably citizens of nonconforming nations would travel to other nations, meet, fall in love and reproduce, potentially introducing new genetic concerns and reintroducing old ones. That's life.
One is the possibility that the results of these tests could be obtained by your health insurance company and used to jack up your rates if you or your spouse are carriers. This IS a real concern, despite the fact that the tests may or may not be accurate. Positive results (as in "carrier", not as in "good") could also potentially be used as an excuse to deny coverage based on a pre-existing condition. It is not at all unlikely that your insurance company would be able to dig up evidence that you had the tests performed, along with your results, particularly if the company is less than reputable (though in the computer age, any information in a database is vulnerable to theft and sale).
Second, laws regarding genetics have not kept pace with the technology. Human genes can be patented, and what's more, can be patented as is, without permission from the person they came from. In other words, anytime any substance containing DNA is taken from you, for whatever purpose (you are considered to have discarded the substance), someone could potentially apply for and receive a patent on your own genes, without asking and receiving your consent, or even letting you know that this has been or is being done. In 2009, the ACLU filed a lawsuit against the U.S. Patent Office to discontinue this practice and invalidate all current patents, but it is currently legal. Again, the less reputable the company, the greater chance of something happening, but as before, any info stored on a database is vulnerable.
It says in the NYT article that these tests generally do not have to be approved by the FDA, and that’s a huge problem. Do you know how genetic tests are regulated? Are they regulated as medical devices?
Genetic counseling is such a complicated field, and it’s absolutely silly to give raw data, not even necessarily accurate, to prospective parents. Downright dangerous!
Rated and appreciated.
"Eugenics" is just a word, and it is a word whose meaning is so broad as to be more of a hindrance to communication than a help. Sure, I can think of similarities between voluntary prenatal testing for genetic defects and, oh, say, the Nazi efforts to eliminate those they deemed "unfit" to survive. I can also think of similarities between between robbery and peaceful voluntary exchange, between slavery and gainful employment, or between consensual sex and rape. That doesn't mean they are the same thing, in any of these cases.
I don't see what is wrong with screening for genetic defects and terminating pregnancies when defects are found. A genetic defect is, in and of itself, by definition, a bad thing.
As Malushinka points out, screening for chromosomal defects is common, and the number of babies being born with Downs' syndrome has plummeted. Do any of the people clicking their tongues in disapproval of this trend want to step up and volunteer to have a baby with Down's syndrome? Didn't think so.
Anyway, does anyone think any power on earth is going to stop prospective parents from using this technology?
1) We have CLIA certification, the same as the millions of lab tests performed each year by Labcorp and Quest. FDA regulation primarily applies to implantables and drugs, while CLIA applies to tests that have an experienced laboratory scientist in the loop.
2) We have submitted a paper to the scientific journal Nature. If you are curious about it, you can read it in advance of publication here: http://precedings.nature.com/documents/4192/version/1
3) What Counsyl is doing is an extrapolation of the Jewish community's
4)The Genetic Information Non Discrimination Act (GINA for short) makes it illegal for employers and insurance companies to discriminate (refuse employment and raise premiums). For more info: http://www.genome.gov/24519851