Live data from Hacker News

Counsyl is Pioneering A New Bioinformatics Wave

techcrunch.com

31–40 of 48 posts

Re: Counsyl is Pioneering A New Bioinformatics Wave

#31
post #10
post #7

Earlier quoted context omitted.

Insurers have been barred by law from discriminating based on genetic information since 2008: http://en.wikipedia.org/wiki/Genetic_Information_Nondiscrimi... . Counsyl definitely falls under the scope of HIPAA; we do tests at the request of physicians, so we're like any other lab as far as privacy is concerned. Your employer, parents, or prospective mate would only know about the results if you decide to tell them. I…

Legally if you fail to disclose that you knew you are a carrier for a severe disease to a prospective spouse prior to marriage it could be grounds for annulment, or a fault divorce. Sorry I don't have the case law at the moment, but I am aware that there was such a case involving Huntington's disease.

Huntington's disease is autosomal dominant, so essentially you're going to get it or not. I don't believe counsyl tests for Huntington's, and probably only tests for recessive traits where you can be a carrier like cystic fibrosis.

I can kind of understand that logic with Huntington's but I'd be surprised if it applied to recessive traits as well.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#32
post #5

Earlier quoted context omitted.

I think you meant GATTACA, the movie? To anyone who hasn't seen it, fantastic movie. Highly recommended. Re: your other points. I think your concerns are well placed, however this isn't something that's specific to Counsyl; 23andme presumably also carries the same risks. At any rate, I do believe they hold your genetic information to the same standards as required in HIPAA.

There is growing evidence that genetic testing to the extend it is used in GATTACA is impossible. For example you can't predict a baby's future height. Sure, you can tell a normal distribution from genetics which is narrower than the distribution of the general population, but it's not as predictive as people might assume. Genetic data has proven to yield a lot less information than was expected. That might change in…

I agree with you completely. I was merely pointing out that it was a great sci-fi movie worth watching. Not as some sort of foreshadowing of future societal outcome. Plus, what's portrayed in the movie (i.e. discrimination based on genetics) is disallowed by law, at least in California.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#33
2.5% of all births last year? So 100,000 people tested? I'm surprised it's not higher. Shouldn't everyone thinking of having children be taking this test?

Impressive how much data these guys are managing.

My only question is, when is Google buying Counsyl? David Drummond is an investor right? This seems like a no-brainer acq for goog to move into health care data.

What is Counsyl valued at?

Re: Counsyl is Pioneering A New Bioinformatics Wave

#34
post #27

Earlier quoted context omitted.

I do data mining. Ready here we go. 10% of people who used service discovered they have BrandonWirtz's Disease. Requirements: Male. Primarily Caucasion as primarily limited to Arian Descent. Symptoms onset at 55. Not symptomatic for those with BMI under 22. With this information I can take the 100% and cut the list to 50% that are male. 50% that are caucasion. (25%) Would have already know if they were over 55 so we…

I'm currently taking a class in data privacy, which is about assessing privacy risks using a mathematically rigorous formalization (differential privacy, see http://en.wikipedia.org/wiki/Differential_privacy ) and developing algorithms to allow for minimal risk release of private databases and avoid attacks like yours above. Your post makes it seem like you might enjoy reading more about the field; you should check o…

Those formula's assume the creator knows all the variables. I have data on things like Probablity a First name is of which race. When names started to appear for determining maximum Age. Search data for identifying people who were worried they had a disease.

Often a single piece of data will cause the intersection of two traits to be 80% accurate. You can't mathmatically predict these things because you don't know how many factors I have.

There are zip codes where only 1 in 100 people are of a given race. There are diseases that only 1 in 100k people have done a search for and only 1 in 500k people have. These kinds of things you can't formulaize.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#35
post #22

So it costs $99 if your insurance pays for it. So the insurance company gets the genetic report. And your child happens to be born with a disease that was noted with a 25% chance of occurrence. Will your insurance balk at paying your child's health bills? Oh, who knows...

The report goes to your doctor. We don't issue reports to insurance companies.

And what is the ethical burden on the physician at this point?

Isn't there an obligation to provide all medically relevant information to the insurance company?

I am confused by your answer.

As to the parent question, the Genetic Information Nondiscrimination Act of 2008 [0] bars employers and health insurers from using genetic information to deny coverage, charge higher premiums, or discriminate in hiring.

It however doesn't affect other providers such as life insurance, disability insurance or long-term-care insurance which would obviously be needed over the lifetime of any infant suffering from any serious malady. These providers are free to use genetic predisposition information to discriminate under federal law. A few individual states bar this activity as well.

Kind of a giant loophole that I have no idea why Congress didn't anticipate.

[0]: http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493:

Re: Counsyl is Pioneering A New Bioinformatics Wave

#36
Far be it for me to rain on this parade, as the founders seem great (and probably somehow related to me given their last name), but if I were to bet on a startup capitalizing on the moore's law change in genomics, it would not be this one (or any other existing company).

Why? From what I can tell, Counsyl is doing genotyping as opposed to sequencing. The latter is what is undergoing "moore's law" price declines.

Second, from the comments by employees on this thread, and the CEO's statement from the article, they are spreading themselves too thin by aiming to be the so-called "Apple" of genomics. Apple didn't start by trying to control the "full-stack", and it wouldn't be Apple if it did.

Third, any company that has Steven Pinker and Henry Louis Gates as advisors, at this stage, seems to be aiming at the wrong things: media exposure and political/legal maneuvering (Our test requires a doctor's prescription) as opposed to making something people want.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#37

How is this different, from, say, 23andme? Does it do whole genome sequencing in addition to SNP chips?

The 23andme founder talks about this here on quora: http://www.quora.com/How-do-the-tests-conducted-by-Counsyl-d...

The Counsyl CTO gives the tl;dr response: 23andMe is recreational genomics, Counsyl is clinical genomics.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#38

Far be it for me to rain on this parade, as the founders seem great (and probably somehow related to me given their last name), but if I were to bet on a startup capitalizing on the moore's law change in genomics, it would not be this one (or any other existing company). Why? From what I can tell, Counsyl is doing genotyping as opposed to sequencing . The latter is what is undergoing "moore's law" price declines. Sec…

> Second, from the comments by employees on this thread, and the CEO's statement from the article, they are spreading themselves too thin by aiming to be the so-called "Apple" of genomics. Apple didn't start by trying to control the "full-stack", and it wouldn't be Apple if it did.

Counsyl started out using a third party lab to process the samples. The founders had a vision of being a pure software company. It turned out that the outside labs they tried all had terrible quality control and we had to re-test samples more often than not. That's totally unacceptable for the stakes of a pre-pregnancy genetic test. So they decided to run a lab in-house and it has been one of the best decisions made in the history of Counsyl. We have an amazing statistical process control team making sure that everything performs as expected. Control plates are constantly moving through our pipeline to catch any mishaps, and we are automating as much as we can in the lab, both to scale and to eliminate human error. We have no known false positives or false negatives, and we've found errors in the 1000 genome project's data (expect a publication about that sometime in the future).

> Third, any company that has Steven Pinker and Henry Louis Gates as advisors, at this stage, seems to be aiming at the wrong things: media exposure and political/legal maneuvering (Our test requires a doctor's prescription) as opposed to making something people want.

Pinker has been an advisor for many years, long before we left stealth mode. (I believe this to be the case with most of our advisors, but I only know for sure about Pinker because I'm a fan.) We have been operating silently since 2010 and have only just now lifted the veil. The test requires a prescription because of the state of health regulation in the US. We give medically actionable information so we're required to get a prescription.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#39
post #38

Far be it for me to rain on this parade, as the founders seem great (and probably somehow related to me given their last name), but if I were to bet on a startup capitalizing on the moore's law change in genomics, it would not be this one (or any other existing company). Why? From what I can tell, Counsyl is doing genotyping as opposed to sequencing . The latter is what is undergoing "moore's law" price declines. Sec…

> Second, from the comments by employees on this thread, and the CEO's statement from the article, they are spreading themselves too thin by aiming to be the so-called "Apple" of genomics. Apple didn't start by trying to control the "full-stack", and it wouldn't be Apple if it did. Counsyl started out using a third party lab to process the samples. The founders had a vision of being a pure software company. It turned…

I don't doubt that you all are good engineers/scientists, and that whatever processes you seek to optimize, you will.

But these things will happen anyway, whether at Counsyl or at another well-funded company with high-quality people.

Whether Counsyl has happened upon some key insight or technology which will make it a revolutionary company is another question. I don't see enough in the article or amongst the comments by employees here to indicate as such.

The points about Pinker etc are not that these aren't impressive people, but rather what do they have to do with the technology or business of Counsyl other than snob appeal?

What disturbs me is the seemingly coordinated release of the article, with the overwhelmingly positive comments by employees here, and rapid defense of any criticism. The challenges to Counsyl, for the most part, seem rigged to disseminate more information about the company.

Yes, you are proud of your company and what its doing, but (again) it seems like you guys are focused on the wrong things.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#40
post #38

Earlier quoted context omitted.

> Second, from the comments by employees on this thread, and the CEO's statement from the article, they are spreading themselves too thin by aiming to be the so-called "Apple" of genomics. Apple didn't start by trying to control the "full-stack", and it wouldn't be Apple if it did. Counsyl started out using a third party lab to process the samples. The founders had a vision of being a pure software company. It turned…

I don't doubt that you all are good engineers/scientists, and that whatever processes you seek to optimize, you will. But these things will happen anyway, whether at Counsyl or at another well-funded company with high-quality people. Whether Counsyl has happened upon some key insight or technology which will make it a revolutionary company is another question. I don't see enough in the article or amongst the comments…

> The points about Pinker etc are not that these aren't impressive people, but rather what do they have to do with the technology or business of Counsyl other than snob appeal?

Ah, I see your concern. That's an understandable critique coming from outside of this industry. I had similar thoughts before I got more familiar with why we have the advisors that we do. Our industry (that is, genetic testing) is a minefield. Lots of people have strong opinions about it and there are many unanswered ethical questions. We need ethicists as advisors to help us make the right decisions. I can't tell you the number of times I've heard the question "So you're like GATTACA?" (For the record: No!) When your customer base is primed for strong negative reactions you need great minds to help inform both the public and your own decisions.

> What disturbs me is the seemingly coordinated release of the article, with the overwhelmingly positive comments by employees here, and rapid defense of any criticism.

Heh, I promise nothing suspicious is afoot here. TechCrunch came by a few weeks ago in preparation of writing a story. We've all been eagerly awaiting its release and as soon as it was up it got announced on our internal "chatter" email list. As you can imagine, when your startup gets profiled on TC it causes a bunch of excitement and we all immediately went to HN to upvote and comment (incidentally, I think we set off the voting ring detector on one of the submissions since we were all voting from the same IP). We love this place and all believe in what we're doing. Nobody was instructed to say nice things or defend the company.

disclosure: I'm a software developer at Counsyl. The above are just my opinions, I am not speaking on behalf of Counsyl, &c. &c.

Post reply on HN