Genetic Testing Before Procreating Just Got Cheaper


Genetic Testing image

Counsyl, a genetic testing startup company is now offering prospective parents what it calls a "universal genetic test" that aims to let them know how their genes might combine to produce genetic disease in their offspring. Counsyl can screen for the genes associated with 100 or so rare diseases. The cost is $349 for an individual or $698 for a couple. People often are carriers of recessive genes that could cause disease if their procreative partner also carries such genes. Counsyl argues that its test allows users to prevent needless suffering. For example, users who test positive for a disease could choose to avail themselves of in vitro fertilization combined pre-implantation genetic diagnosis of embryos, use donor eggs or sperm, or prepare themselves for the possibility of a bearing a child with the disease. In the latter case, parents might also then have a head start on possible early treatment options.

According to Technology Review, Harvard linguist and cognitive researcher Steven Pinker and his wife novelist Rebecca Goldstein have taken the test. TR reports:

Pinker, who has no children, discovered that both he and his wife, novelist Rebecca Goldstein, carry a genetic mutation linked to familial dysautonomia, a rare nervous system disorder. That means that if the couple had children, each would have had a 25 percent chance of inheriting the disease-causing mutation from both parents and therefore developing the disease. (Familial dysautonomia is a so-called Mendelian disease, which means that people who carry only one copy of the mutation, like Pinker and his wife, are not at risk.)

"Children aren't in our cards, we are a little old for that," says Pinker. "But if we had met a few years earlier, before the test had been invented, we would have been playing roulette with our kids." After learning of their test results, Pinker's siblings and Goldstein's daughters also underwent testing, learning they are not carriers. The disease-linked variation is more common among Ashkenazi Jews.

Pinker, who serves as a scientific advisor to Counsyl, says that he hopes the couple will become "poster children" for screening. "The fact that we both tested positive for the same disease is a reminder that, yes, this can happen," says Pinker. "The odds are low but not astronomically low. And it's a serious enough risk that people ought to avail themselves of this technology."

What are the chances that both parents might be carriers of the same deleterious genes? The New York Times reports:

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 assertion that "genetic  testing is a human right, not a luxury" goes too far, but I do agree that anyone who wants to use such testing for themselves should be allowed to do so. 

Go here to read the New York Times article. And go here to read Reason's 2002 interview with Pinker.

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  1. The cost is $349 for an individual or $698 for a couple.

    What a deal! Only $3,490 for a group of ten?

    1. Yes, but only $6,980 for a group of twenty.

  2. Pinker! We're lucky he's too uncharasmatic to be the Hitler he wants to be.

    "But if we had met a few years earlier, before the test had been invented, we would have been playing roulette with our kids."

    He'd have actually shot them, if he believed his own bullshit. But he doesn't, not for him.

    So I'd have started a hitman fund to have his dysgenic progeny killed. Possibly just to make a point. Depends how much money I raised.

    1. What the fuck are you on about?
      Seriously-Your post is incoherent. Are you suggesting that he should have kids anyway? That he was wrong to take the test? What?
      Or did you read 'roulette' as 'Russian Roulette'?

      1. ? is the man, get over it.

  3. Counsyl's assertion that "genetic testing is a human right, not a luxury" goes too far...

    Going for mandatory product purchase and thus guaranteed profit, I see.

    1. When we have universal health care it will be manditory.

  4. Can they test for the troll gene? I'd love to think of an entire generation of lackwits never being born.

    1. What would you do without trolls? Eat chocolate? Hell, trolls may have saved your life.

      1. The USDA has determined that the occasional dumbass has all the required nutrients for a healthy blog. Trolls are the very needle tip of the food pyramid. There are all the time foods, and sometimes foods, and never foods.

        1. This is why you are sugar free. Diabetes runs in my family; I thought I was destined for it; my doc said "nope, you don't HAVE to get it. It is your choice at this point."

          Then he went on about how the food pyramid is bullshit and how I could avoid the disease. Now I ahve lost 35 lbs and my numbers are coming back into normal range. No drugs, no insulin, and I can still eat cake (yet not as much a I used to).

          He is an MD too...I didn't think any of those were allowed to think for themselve but he said "The AMA is slow and not worth fighting. I don't publish I just treat my patients."

          I like him. He is cool.

          Let them eat bacon wrapped hot dogs...

        2. type 1 or type 2 because I love to get food pyramid advice from a 2.;-)

          1. Thats the point. I have Type 1 and Type 2 in my history. two gens up he was full blown pancreatic shutdow by 60. He didnt eat like a pig either. (incidentally, he lived to 91 and the flu got him) 1 gen up it is Type 2...more a diet exercise issue there. My doc says causes are similar and treatments will cure both (if type 1 is not gone too far as in black shriveled pancreas). He has taken people who were on 3 shots/day or the pump and had them with no insulin or glucophage within a couple of years. Sometimes he says you do still need a little help and that each person is different. But he tests me every 2 months and could care less how much bacon i eat so I like him.

            He has one of those machines that goes PING!

            1. CB, so you are eating mostly protein? I don't have it but I remember reading a book about that connection.

              1. He preaches macero nutrient ballance. Protien + fat for me for now. I was becoming resistant and he says that can lead to full on shutdown mof the pancreas if not treated (not to mention death) or if overtreated. SO, by managing macronutrient ratios he says he can bring me back to normal but lifestyle changes are still needed (not as drastic as now but still there).

                A double shot half calf soy espresso...with a twist of lemon

                p.s. name THAT movie and earn my respect for at least 10 minutes.

                1. Beverly Hills Cop

                2. L.A. Story. Don't need it

              2. Go read Good Calories, Bad Calories. Get it tonight. If you don't, I will come to your house and buttfuck you to death in your sleep. Fair warning.

                1. I don't make any insulin of my own. I could eat celery every day until doomsday and I'll still be a diabetic.

                  1. yup...shriveled, black, pea sized ball for an organ...sorry dude, that happens.


                2. @Gobbler

                  NOPE! LA of my favorite stupid movies.

                  1. Oh. I was thinking of the gay guy that offered espresso to Eddy Murphy's character.

                    MY BAD!

            2. I'm with you on all counts. Diagnosed Type 2 a little more than a year ago. Lost 40 pounds low-carbing and got taken off three meds, never did have to inject insulin.

              However, Glucophage (metformin) reportedly has a certain protective effect against breast cancer stem cells, and also helps moderate the appetite. Since Mom died from breast cancer, and I have some more weight to lose, my doctor and I agree that it's best I continue to take it for the time being.

              1. Incidentally my brother, diagnosed practically at the same time as me, with worse blood sugars, is off all meds and doesn't significantly modify his diet (the idiot eats rice, potatoes, and cake). He is able to keep his blood sugars in line with exercise. Of course, I control my blood sugar levels very tightly, and he is somewhat looser. But he still reversed the degeneration in his feet, is beginning to reverse his rheumatoid arthritis, and is doing pretty well all things considered.

  5. Ashkenazi Jews

    I hate Jewish Nazis.

    1. We're really okay once you get to know us.

    2. You're a self hating Nazi?

      1. There are very few southern baptist jews.

  6. Did we just have a particularly crazy Godwin violation by comment 2? Wow.

    Moving on, the whole human rights thing is definitely a San Francisco progressive thing to be sure, but looky here:

    I was all prepared to be cynical and think this was a conspicuous compassion thing like Project Red, but seems like they actually offer financial aid. That is so surprisingly noble and unexpected for a biotech firm that I am shocked.

    I wonder when 23andMe is going to offer financial aid. Probably never, they need financial aid themselves.

  7. Counsyl's assertion that "genetic testing is a human right, not a luxury" goes too far,

    If he means, it is a right that no government should be allowed to interfere with, I agree.

    If he means, it is a right that your neighbors should be billed for if you exercise it, I disagree.

    So, which is it?

    1. I think the person quoted is objecting to the second one.

      1. Yeah, I got that, I'm just wondering which one "Counsyl" (if that's even a real name) meant.

        1. Just a wild guess here, alloow me to spitball this one . . .

          The first one.

    2. Is a counsyl a feminist lawyer?

      1. Either that or a Nazi vampire.

  8. Does this mean the testing lab will be able to subsequently sue for custody of the kid?

  9. How does that racist picture and its equally racist alt-text tie in with the article?

    1. I missed the racism part. Can you explain? Just like the Obama picture the family Escalade is out of the frame.

  10. If left voluntary and not made mandatory, genetic testing of this sort will serve as yet another example of how technological advances, teased out by the free market, can serve to improve outcomes and drive down costs in health care. Voluntary genetic screening before procreation and genetic therapy during gestation or after birth, are potential game-changers, which may invalidate or make irrelevant all of the earnest, hand-wringing analysis that has been used so far to support calls for socialized medicine (effective government takeover of the health care sector) in the guise of "health care reform." Let's watch!

  11. Anyone who begs off striving to eliminate debilitating diseases that slowly decay the body and mind on the basis of the questionable potential of racism is, quite simply, a monster.

  12. "But if we had met a few years earlier, before the test had been invented, we would have been playing roulette with our kids."

    That's where I came in.

  13. Pinker, who serves as a scientific advisor to Counsyl, says that he hopes the couple will become "poster children" for screening.

    The only way they wouldn't become poster children is if someone aborts them before they're born due to their mutant disease.

    1. They don't test the genetics of a fetus, just the genetics of potential parents.

  14. Counsyl's assertion that "genetic testing is a human right, not a luxury" goes too far, but I do agree that anyone who wants to use such testing for themselves should be allowed to do so.

    Having the option to use genetic testing services is.

    I count this as a good thing only because I'm a shill for big knowledge.

    1. Oops! I screwed up the blockquotes. That's what happens when you enroll in the SugarFree school of HTMLology.

      1. +2


      2. You just made the list.

          1. But Peeweeeeee

  15. i can't believe no one has worked in a gattaca reference

    1. What does a prison riot have to do with this?

      1. As gay Al Pachino: "ATTICA! ATTICA! ATTICA!"

        not gattica

  16. I'm disappointed that my rare genetic condition didn't make the list.

  17. You'll pick your son, pick your daughter too, from the bottom of a long glass tube.

    1. What do you have against us children of the tube?

  18. Imagine: A black market for this technology thrives in China, leading to a crippling male-to-female ratio imbalance. China is then forced to invade other countries for breeding females.

    1. If the Chinese weren't so stupid, they would breed millions of daughters for export. Them Chinese womens is hawt!

      1. They are already doing that.

    2. Can't we just send them a few dozen from Pittsburgh, Philly and New Orleans?

    3. You mean a blackmarket for ultrasound machines?

      The government has tried to discourage these abortions. Zhao Baige, vice minister of the Family Planning Commission, says it is now illegal to get an ultrasound in order to identify the sex of a baby.

      "It is against the law," she explained.

      A pregnant woman can still get an ultrasound, but only if it's medically necessary. To make sure the sex of the fetus is not revealed, two doctors are present and the exam is recorded on closed-circuit TV.

      If a doctor told an expectant mother the sex of her baby, Zhao says the physician wouldn't be able to continue his or her job and would be fired.

      But Chinese couples determined to have a boy can get around the restrictions on ultrasounds by going underground, in back alleys, where illegal storefronts have sprung up to meet the demand. Ultrasound machines are inexpensive in China; they cost about $360 and, as 60 Minutes saw, they are small enough to be hidden in a closet or even in the trunk of a car to do scans on the run. And that's made it difficult to crack down.

      We showed the minister some Chinese newspaper photos of a van parked in a Beijing suburb doing ultrasounds in the back.

      "We need a more enforcement," Zhao said.

    4. Ummm, the parents genetics won't tell you the sex of a baby.

  19. "But if we had met a few years earlier, before the test had been invented, we would have been playing roulette with our kids."

    imagine that! the horror!

    1. Notice that they say they would have been playing roulette, not Russion roulette. I am glad these bastards didn't spawn a litter of chronic gamblers.

      1. Sounds from that statement chronic gambling is already in their DNA.

  20. Look, I am entitled to a perfect, above-average, obedient child. I don't see what's so hard to understand here...

    1. Home schooling and a good sturdy paddle should do the trick.

      1. Aren't those illegal?

    2. You have nothing to worry about. Sheep give birth to lambs, not foxes.

  21. bestpriceforsales powershot s90 showing a message that said "lens error - restart camera". I panicked and googled the error, and as it turns out, this error has affected about 10,000 units in the production.

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