6 ms·

Counsyl is Pioneering A New Bioinformatics Wave

113 points by daslee 13y ago

minikomi 13y ago
As someone who studied biotech (with an agricultural focus though), who now works in software, this is a very exciting development. Ah, to live in California! I do love Tokyo though.
_ihaque 13y ago
Full disclosure: I work for Counsyl. (In fact, if you watch the video at the bottom of the article, I'm the second speaker.) The cool thing (well, one of many) about Counsyl is that there are a lot more things going on than pure biology and bioinformatics. Making genomics truly accessible is a software challenge that goes way beyond bioinformatics. There's obviously statistics, machine learning, and robotics running the lab; however, even more problems are pure engineering tasks. For example: - How do you design the UI/UX around presenting data on 100 genes which can cause severe illness, but which most doctors (let alone patients) have never heard of? - How do you efficiently accept orders from clinics across the nation, using a mix of web, paper, and EMR (electronic medical records) systems? (For bonus credit: deal with EMRs shipping fresh today on Windows 3.1. For double bonus credit: figure out how to bypass that ancient cruft and bring clinics into the 21st century.) - How do you bill insurance companies when it can be opaque to even find out which insurance company pays for a given patient's procedures? - How can you share data with the scientific community in as open a way as possible, without compromising patient privacy? There's a huge amount of work to be done, so if you're interested in helping out, give us a look: https://www.counsyl.com/jobs/ https://www.counsyl.com/jobs/. (It looks like this article is getting multiply posted, so please accept my apologies for hitting this one too.)
gforst 13y ago
Totally agree this will be huge. Marketing it will be interesting but I am guessing OBGYN's maybe the doorway for this. Congrats.
drakaal 13y ago
I like things like this for diagnosis. The problem is in how insurance, employers, parents, and prospective mates will view it. GATTACA jumps to mind. Just because you can mine the email on Gmail to find everyone who secretly likes Justin Bieber and market to them doesn't mean you should. My genetics are much the same. Until I can mine them in the privacy of my own home with my own equipment and control what data is shared I won't do it. I don't know if HIPAA governs the privacy of Counsyl, but even at that level of medical privacy I'm not sure I would want it. being disqualified from insurance, or military or being an astronaut because I got a swab of my cheek is not worth it. [edit] fixed Gattaca spelling as mentioned by others.
- Pwnguinz 13y ago
  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.
  - bayesianhorse 13y ago
    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 the future, but I don't believe health insurance companies could make a business case for genetic discrimination even if they were allowed too.
    - Pwnguinz 13y ago
      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.
jacoblyles 13y ago
I'm looking forward to Balaji's Coursera class: https://www.coursera.org/course/startup https://www.coursera.org/course/startup
lvs 13y ago
What's revolutionary about 400 SNPs for $599? There's absolutely no chance to compete with that kind of product and pricing.
- rcthompson 13y ago
  To pose the same question in another way: what does Counsyl give you for $599 that companies like 23andMe don't already give you for $99? I couldn't find anything on the counsyl website that addresses this. Edit: Actually, I think the difference might be that Counsyl is marketing to a clinical market, as opposed to 23andMe which is direct-to-consumer. Since I've read that 10x price overhead for clinical stuff is typical (from a link on HN a while ago), maybe $599 isn't too bad a price in that market for something that is $99 direct-to-consumer. Who knows?
  - buss 13y ago
    The primary difference is that we're performing a clinical grade test that gives our patients actionable information. We only test for autosomal recessive disorders that will affect the health of your children. Unless you've been tested before, you don't know if you're a carrier. If both parents test positive for the same mutation then your child has a 25% chance of being born with the disease. This information allows you to make an informed decision about how to bring a healthy child into the world. (You have a few options once you have our test results -- in-vitro, adoption, or a normal pregnancy if the disease is manageable). 23andMe gives you SNP mutation results for many more genes that may or may not be associated with the disease that they report. They do a pretty good job of curation, but their SNPs do not guarantee your future disease status. Knowing that I have 2.3% higher odds of getting diabetes later in life is not going to meaningfully impact my day-to-day life, I already knew diabetes runs in my family, after all. 23andMe is great, don't get me wrong (many of us at Counsyl are 23andMe members, including myself), but they provide a different service for a different market. Our test requires a doctor's prescription and we include a free genetic counseling session (from our own licensed genetic counselors) for all patients. Finding out that you and your partner are carriers for a serious disease can be a big surprise and cause a lot of confusion and stress. We have great GCs to explain the effects of each disease and how they could manage it in a child, if they choose to have a normal pregnancy. We're more than just a SNP testing lab, we want to give you all of the information you need to have a healthy pregnancy. disclosure: I am a software developer at Counsyl, currently working on insurance automation and internal tools for our support staff.
jonchang 13y ago
How is this different, from, say, 23andme? Does it do whole genome sequencing in addition to SNP chips?
- daslee 13y ago
  The 23andme founder talks about this here on quora: http://www.quora.com/How-do-the-tests-conducted-by-Counsyl-differ-from-those-conducted-by-23andMe 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.
chime 13y ago
I had a great experience of going through Counsyl's early-stage recruitment/interview process. They actually found me through a single post I made here on HN! The problems they gave me were very interesting and I got to Skype with the key engineering team members for a full day. I wish I could've moved to CA to take up on their offer but due to personal circumstances, I could only do remote. I don't get to say this often enough - I have the utmost respect for their founders, their vision, and the brilliant team they have gathered. If you are reading this and qualify for one of their job openings, I highly recommend you apply.
- coherentpony 13y ago
  I applied and went through a very enjoyable three interviews with the CEO and two others. They seemed really interested in me and yet they never got back to me.
tikhonj 13y ago
The coolest thing about Counsyl is that it's taking the tech startup philosophy and ideas and applying them to biology. Software is eating the world, and Counsyl is bringing that to a new--and very important--arena. An added benefit is that much of what Counsyl does does not depend on the actual biology behind it. I attended one of their infosessions at Berkeley, and I remember a whole bunch of jobs like managing supplies and billing that are simultaneously nontrivial and unrelated to the actual domain. I've never much liked biology personally, so that's very promising. If you want to work on something meaningful but don't really like genetics or medicine, Counsyl still seems like a great option.
siculars 13y ago
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...
- _ihaque 13y ago
  The report goes to your doctor. We don't issue reports to insurance companies.
  - shawn-butler 13y ago
    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 http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493:
troymc 13y ago
There's something I'm not understanding here: If my spouse and I do the tests and find out there's a 25% chance our child will have a particular health problem, what are we supposed to do about it? Adopt? Roll the dice anyhow? In the article, there's a couple that did the test then decided to do in vitro fertilization (IVF), but I don't see how that helps. It seems to me that any offspring that arise from IVF are going to have the same probability of having the health problem. What am I missing?
- jdale27 13y ago
  http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnos...
- cycrutchfield 13y ago
  There are a couple of steps that a carrier couple could take in that situation: * IVF-PGD (like the couple in the article): http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnos... * Use a donor egg or sperm * Adoption * For certain diseases like phenylketonuria, which are not life-threatening if certain dietary restrictions are followed, the pregnancy can proceed as normal but the baby can't be fed anything with phenylalanine in it.
geuis 13y ago
I had a lovely 2-3 month contract with Counsyl last year to help them build some internal systems. I have to say that they really have their stuff together and working with the team was a lot of fun. I've mostly had to stay silent the last year about what they're doing due to NDA and such, and won't say much here, but I HIGHLY recommend anyone looking to have kids consider going through Counsyl's program. Also, if you are an engineer and are approached to join the team, give it every consideration. Those guys are so smart it's scary. Learning how microfluidic assays work was one of the coolest things I'd seen in a long time.
- zmitri 13y ago
  Their recruitment is quite annoying. I never sent in anything and they sent me emails saying thanks for applying and to fill in a slot on the calendar for when I could meet. Their approach to the process immediately turned me off.
  - geuis 13y ago
    Perhaps I'm not understanding correctly. You didn't send a resume yet you were scheduled for an interview anyway? That doesn't make a terrible amount of sense.
    - zmitri 13y ago
      I suppose I can show the emails: > Hi Dmitri, > > Thanks for applying to Counsyl back in August. At the time we didn't > have any openings in engineering but now we do. > > We'd like to schedule you for an initial phone interview with Rishi > Kacker, VP of Engineering, to learn more about your interests and how > you may fit in at Counsyl. > > Please book an appointment here: http://bit.ly/Rishi_appointments http://bit.ly/Rishi_appointments > > Enter in your full name in the "What" section and the best number to > reach you in the "Where" section of the appointment slot. > > Email me once you've finished booking your appointment so that I can > confirm that it went through. I responded saying -- hey this is spamming me and is kind of disrespectful/underhanded approach to recruiting and they said: Hi Dmitri, This is definitely an error on our part. I'm sorry for the annoyance. It looks like your name was pulled up as an exceptional candidate back in August (likely from a HackerNews thread). You should have only been contacted to check for interest, but unfortunately, you were sent a stock email (as if you had previously applied). See the attached linkedin profile PDF from August. I'm sorry again for this clerical error. I'll look further into the root cause and hopefully we can prevent this type of error in the future. I'd be happy to take a call if you have further concerns. EDIT: On the linkedin profile they mentioned and sent via screen shot, it explicitly says no recruiters.
doublescythe 13y ago
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?
argumentum 13y ago
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.
- buss 13y ago
  > 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.

113 points by daslee 13y ago

As someone who studied biotech (with an agricultural focus though), who now works in software, this is a very exciting development. Ah, to live in California! I do love Tokyo though.

_ihaque 13y ago

Full disclosure: I work for Counsyl. (In fact, if you watch the video at the bottom of the article, I'm the second speaker.) The cool thing (well, one of many) about Counsyl is that there are a lot more things going on than pure biology and bioinformatics. Making genomics truly accessible is a software challenge that goes way beyond bioinformatics. There's obviously statistics, machine learning, and robotics running the lab; however, even more problems are pure engineering tasks. For example: - How do you design the UI/UX around presenting data on 100 genes which can cause severe illness, but which most doctors (let alone patients) have never heard of? - How do you efficiently accept orders from clinics across the nation, using a mix of web, paper, and EMR (electronic medical records) systems? (For bonus credit: deal with EMRs shipping fresh today on Windows 3.1. For double bonus credit: figure out how to bypass that ancient cruft and bring clinics into the 21st century.) - How do you bill insurance companies when it can be opaque to even find out which insurance company pays for a given patient's procedures? - How can you share data with the scientific community in as open a way as possible, without compromising patient privacy? There's a huge amount of work to be done, so if you're interested in helping out, give us a look: https://www.counsyl.com/jobs/ https://www.counsyl.com/jobs/. (It looks like this article is getting multiply posted, so please accept my apologies for hitting this one too.)

gforst 13y ago

Totally agree this will be huge. Marketing it will be interesting but I am guessing OBGYN's maybe the doorway for this. Congrats.

drakaal 13y ago

I like things like this for diagnosis. The problem is in how insurance, employers, parents, and prospective mates will view it. GATTACA jumps to mind. Just because you can mine the email on Gmail to find everyone who secretly likes Justin Bieber and market to them doesn't mean you should. My genetics are much the same. Until I can mine them in the privacy of my own home with my own equipment and control what data is shared I won't do it. I don't know if HIPAA governs the privacy of Counsyl, but even at that level of medical privacy I'm not sure I would want it. being disqualified from insurance, or military or being an astronaut because I got a swab of my cheek is not worth it. [edit] fixed Gattaca spelling as mentioned by others.

Pwnguinz 13y ago
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.
- bayesianhorse 13y ago
  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 the future, but I don't believe health insurance companies could make a business case for genetic discrimination even if they were allowed too.
  - Pwnguinz 13y ago
    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.

jacoblyles 13y ago

I'm looking forward to Balaji's Coursera class: https://www.coursera.org/course/startup https://www.coursera.org/course/startup

lvs 13y ago

What's revolutionary about 400 SNPs for $599? There's absolutely no chance to compete with that kind of product and pricing.

rcthompson 13y ago
To pose the same question in another way: what does Counsyl give you for $599 that companies like 23andMe don't already give you for $99? I couldn't find anything on the counsyl website that addresses this. Edit: Actually, I think the difference might be that Counsyl is marketing to a clinical market, as opposed to 23andMe which is direct-to-consumer. Since I've read that 10x price overhead for clinical stuff is typical (from a link on HN a while ago), maybe $599 isn't too bad a price in that market for something that is $99 direct-to-consumer. Who knows?
- buss 13y ago
  The primary difference is that we're performing a clinical grade test that gives our patients actionable information. We only test for autosomal recessive disorders that will affect the health of your children. Unless you've been tested before, you don't know if you're a carrier. If both parents test positive for the same mutation then your child has a 25% chance of being born with the disease. This information allows you to make an informed decision about how to bring a healthy child into the world. (You have a few options once you have our test results -- in-vitro, adoption, or a normal pregnancy if the disease is manageable). 23andMe gives you SNP mutation results for many more genes that may or may not be associated with the disease that they report. They do a pretty good job of curation, but their SNPs do not guarantee your future disease status. Knowing that I have 2.3% higher odds of getting diabetes later in life is not going to meaningfully impact my day-to-day life, I already knew diabetes runs in my family, after all. 23andMe is great, don't get me wrong (many of us at Counsyl are 23andMe members, including myself), but they provide a different service for a different market. Our test requires a doctor's prescription and we include a free genetic counseling session (from our own licensed genetic counselors) for all patients. Finding out that you and your partner are carriers for a serious disease can be a big surprise and cause a lot of confusion and stress. We have great GCs to explain the effects of each disease and how they could manage it in a child, if they choose to have a normal pregnancy. We're more than just a SNP testing lab, we want to give you all of the information you need to have a healthy pregnancy. disclosure: I am a software developer at Counsyl, currently working on insurance automation and internal tools for our support staff.

jonchang 13y ago

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

daslee 13y ago
The 23andme founder talks about this here on quora: http://www.quora.com/How-do-the-tests-conducted-by-Counsyl-differ-from-those-conducted-by-23andMe 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.

chime 13y ago

I had a great experience of going through Counsyl's early-stage recruitment/interview process. They actually found me through a single post I made here on HN! The problems they gave me were very interesting and I got to Skype with the key engineering team members for a full day. I wish I could've moved to CA to take up on their offer but due to personal circumstances, I could only do remote. I don't get to say this often enough - I have the utmost respect for their founders, their vision, and the brilliant team they have gathered. If you are reading this and qualify for one of their job openings, I highly recommend you apply.

coherentpony 13y ago
I applied and went through a very enjoyable three interviews with the CEO and two others. They seemed really interested in me and yet they never got back to me.

tikhonj 13y ago

The coolest thing about Counsyl is that it's taking the tech startup philosophy and ideas and applying them to biology. Software is eating the world, and Counsyl is bringing that to a new--and very important--arena. An added benefit is that much of what Counsyl does does not depend on the actual biology behind it. I attended one of their infosessions at Berkeley, and I remember a whole bunch of jobs like managing supplies and billing that are simultaneously nontrivial and unrelated to the actual domain. I've never much liked biology personally, so that's very promising. If you want to work on something meaningful but don't really like genetics or medicine, Counsyl still seems like a great option.

siculars 13y ago

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...

_ihaque 13y ago
The report goes to your doctor. We don't issue reports to insurance companies.
- shawn-butler 13y ago
  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 http://thomas.loc.gov/cgi-bin/bdquery/z?d110:HR00493:

troymc 13y ago

There's something I'm not understanding here: If my spouse and I do the tests and find out there's a 25% chance our child will have a particular health problem, what are we supposed to do about it? Adopt? Roll the dice anyhow? In the article, there's a couple that did the test then decided to do in vitro fertilization (IVF), but I don't see how that helps. It seems to me that any offspring that arise from IVF are going to have the same probability of having the health problem. What am I missing?

jdale27 13y ago
http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnos...
cycrutchfield 13y ago
There are a couple of steps that a carrier couple could take in that situation: * IVF-PGD (like the couple in the article): http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnos... * Use a donor egg or sperm * Adoption * For certain diseases like phenylketonuria, which are not life-threatening if certain dietary restrictions are followed, the pregnancy can proceed as normal but the baby can't be fed anything with phenylalanine in it.

geuis 13y ago

I had a lovely 2-3 month contract with Counsyl last year to help them build some internal systems. I have to say that they really have their stuff together and working with the team was a lot of fun. I've mostly had to stay silent the last year about what they're doing due to NDA and such, and won't say much here, but I HIGHLY recommend anyone looking to have kids consider going through Counsyl's program. Also, if you are an engineer and are approached to join the team, give it every consideration. Those guys are so smart it's scary. Learning how microfluidic assays work was one of the coolest things I'd seen in a long time.

zmitri 13y ago
Their recruitment is quite annoying. I never sent in anything and they sent me emails saying thanks for applying and to fill in a slot on the calendar for when I could meet. Their approach to the process immediately turned me off.
- geuis 13y ago
  Perhaps I'm not understanding correctly. You didn't send a resume yet you were scheduled for an interview anyway? That doesn't make a terrible amount of sense.
  - zmitri 13y ago
    I suppose I can show the emails: > Hi Dmitri, > > Thanks for applying to Counsyl back in August. At the time we didn't > have any openings in engineering but now we do. > > We'd like to schedule you for an initial phone interview with Rishi > Kacker, VP of Engineering, to learn more about your interests and how > you may fit in at Counsyl. > > Please book an appointment here: http://bit.ly/Rishi_appointments http://bit.ly/Rishi_appointments > > Enter in your full name in the "What" section and the best number to > reach you in the "Where" section of the appointment slot. > > Email me once you've finished booking your appointment so that I can > confirm that it went through. I responded saying -- hey this is spamming me and is kind of disrespectful/underhanded approach to recruiting and they said: Hi Dmitri, This is definitely an error on our part. I'm sorry for the annoyance. It looks like your name was pulled up as an exceptional candidate back in August (likely from a HackerNews thread). You should have only been contacted to check for interest, but unfortunately, you were sent a stock email (as if you had previously applied). See the attached linkedin profile PDF from August. I'm sorry again for this clerical error. I'll look further into the root cause and hopefully we can prevent this type of error in the future. I'd be happy to take a call if you have further concerns. EDIT: On the linkedin profile they mentioned and sent via screen shot, it explicitly says no recruiters.

doublescythe 13y ago

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?

argumentum 13y ago

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.

buss 13y ago
> 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.