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Counsyl is Pioneering A New Bioinformatics Wave

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Re: Counsyl is Pioneering A New Bioinformatics Wave

#2
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/.

(It looks like this article is getting multiply posted, so please accept my apologies for hitting this one too.)

Re: Counsyl is Pioneering A New Bioinformatics Wave

#4
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.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#5
post #4

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…

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.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#7
post #4

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…

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.

It's also important to note exactly what Counsyl is testing: we're look at severe single-gene disorders, things that in most cases cause severe disability or early death. Importantly, if you only have one defective copy of a gene for which we test, you won't show symptoms of the disease. This is not the kind of thing that should affect your employer or insurer. And, if you're a carrier, it's probably something you should discuss with your prospective mate: if he or she is also a carrier for the same disease, there's a 1/4 chance of your child having that severe condition.

*edit to add the last paragraph

Re: Counsyl is Pioneering A New Bioinformatics Wave

#8
post #7
post #4

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…

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…

GINA is Only for predisposition. Anything that is diagnosed through genetics is fair game. If you use genes to detect that I have something like Fabry Disease which you either have or you do not based on the genes you can be asymptomatic and still have the disease and you will develop it eventually.

Re: Counsyl is Pioneering A New Bioinformatics Wave

#10
post #7
post #4

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…

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.
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