5 ms·

Cancer represents a broad class of diseases (like "viral infection" is everything from common cold to HIV). If you or someone you know is diagnosed with cancer,

by ed312 8y ago

Cancer represents a broad class of diseases (like "viral infection" is everything from common cold to HIV). If you or someone you know is diagnosed with cancer, and especially if it is later stage, please seriously consider comprehensive genomic profiling (CGP). CGP can help identify targeted therapies (and often clinical trials) which treat the specific genetic alterations or other factors in your disease. I'd like to shamelessly plug the company I work for, Foundation Medicine (https://www.foundationmedicine.com/ https://www.foundationmedicine.com/) who is a leader in this area. Regardless of who you go with, please do CGP to learn more about your disease and the options you have.

throwawaymath 8y ago
Is there any reason not to do CGP preemptively?
- aaavl2821 8y ago
  I believe they are sequencing tumor tissue
- yread 8y ago
  Mutations can be divided to germline (~what you inherited, it's part of your normal dna, but it increases likelihood of getting cancer, for example by making dna self repair less effective, think Angelina Jolie) and somatic (random (?) mutations that enable unlimited growth, switch off cell death and so on and are only present in the tumor). There can be multiple mutation groups within a single tumor. Preemptive testing is useful and done for people with history of early cancers in family but obviously can detect only germline mutations. Most of the targeted therapies target somatic mutations. Some hospitals doing genomic testing share their data through AACR GENIE project https://www.aacr.org/Research/Research/Pages/aacr-project-genie.aspx https://www.aacr.org/Research/Research/Pages/aacr-project-ge...
- ed312 8y ago
  There is no harm that I am aware of - but it may not be considered necessary depending on the source. For example, some insurance providers will only reimburse after you're at a certain stage. I can tell you that if I or someone I love was diagnosed, I would get CGP immediately. Potentially avoiding a round of chemo that probably wouldn't even work... that's worth it to me.
- sjg007 8y ago
  Depends on the tumor/cancer type. If it doesn't inform the treatment protocol then it's basically only useful for knowledge. However, more information is always better and useful, especially in the future. So if you can do a CGP you should, or even better get complete sequencing done. But that latter is a 10k cost possibly more. Most cancer centers have a pipeline for treatment and also for research so usually you are in good hands. If a particular CGP is useful then they and the insurance will do it.
copperx 8y ago
Isn't this done by default at some cancer centers? When my mother was treated at MD Anderson they did a genomic sequence of the tumor. What's the difference between that and what your company does?
- ed312 8y ago
  Some pathology labs do simpler sets of tests in house (e.g. testing for alterations in one gene in one class of disease). CGP tests sequence many many more genes and call out far more variants in the DNA. Basically you might test negative for strep throat at a CVS, but you still have an infection
- sjg007 8y ago
  Yes some cancer centers do this for some cancers. Some also send out to Foundation medicine I believe. Foundation has their own specific panels which may be different than the cancer center etc...
  - ed312 8y ago
    That's exactly correct - we're trying to partner with facilities as much as possible. On the other side - we're also trying partner with pharma companies to help find prospective patients for their trials. It's a really exciting time to be in this field since we're finally able to deliver on the promise of CGP, at scale, and at a reasonable cost. I'm just a software engineer but I find this stuff really cool!
rscho 8y ago
This is blatant self advertising of the worst kind. Saying late stage people should contact your company to identify advanced or even trial therapies! I strongly suggest that you take a course in medical ethics, so you can understand what is wrong about what you have written above and stop doing a disservice to already very sick patients. Addendum: https://news.ycombinator.com/item?id=15187747 https://news.ycombinator.com/item?id=15187747
- cheeko1234 8y ago
  Thank you for this comment. Edit: removed incorrect assumption about poster
  - ed312 8y ago
    For what its worth, I'm just a software engineer and I gain nothing from this personally. (I don't even have shares or RSUs). I knew nothing about CGP when I got into this field so I'm generally pretty enthusiastic about telling people. I'm not running a super bowl add to take a magic pill - you actually can't even order this test on your own as far as I know - it has to come from a pathologist or oncologist.
    - cheeko1234 8y ago
      Fair enough. I believe you and will remove the snarky comment.
- ed312 8y ago
  From what I've heard lots of oncologists and pathologists are not up to date on CGP in general. We've had several patients come in to speak saying they only heard about CGP after getting a second or third opinion - otherwise they would have tried chemo and that was it. You really think its unethical to try to spread awareness of something that could help people?
  - rscho 8y ago
    The way you are doing it? Yes, it is strictly unethical. You really think an oncology specialist would be unaware of that kind of thing? Specialists may have their reasons, or they even may be wrong, but as a software engineer, it really is not your call. The few comments you published here already reveal that your understanding of the implications of your advice is incomplete. Again, I respectfully but strongly suggest studying some medical ethics.
Balgair 8y ago
I couldn't find it on your website, but does your company sell/share any of your customer's genetic information or has your company received subpoenas for such information? Along those lines, does the EULA state that they can change the terms and conditions at any time without notice? 23&me is semi-notorious on HN for giving out genetic data to insurance companies, law enforcement, and other institutions. Thermo-Fisher is in a LOT of heat[0] for working with China to target ethnic minorities via genetic data and then sending those people to re-education camps. Will your company do the same? [0] https://www.nytimes.com/2019/02/21/business/china-xinjiang-uighur-dna-thermo-fisher.html https://www.nytimes.com/2019/02/21/business/china-xinjiang-u...

by ed312 8y ago

throwawaymath 8y ago

Is there any reason not to do CGP preemptively?

aaavl2821 8y ago
I believe they are sequencing tumor tissue
yread 8y ago
Mutations can be divided to germline (~what you inherited, it's part of your normal dna, but it increases likelihood of getting cancer, for example by making dna self repair less effective, think Angelina Jolie) and somatic (random (?) mutations that enable unlimited growth, switch off cell death and so on and are only present in the tumor). There can be multiple mutation groups within a single tumor. Preemptive testing is useful and done for people with history of early cancers in family but obviously can detect only germline mutations. Most of the targeted therapies target somatic mutations. Some hospitals doing genomic testing share their data through AACR GENIE project https://www.aacr.org/Research/Research/Pages/aacr-project-genie.aspx https://www.aacr.org/Research/Research/Pages/aacr-project-ge...
ed312 8y ago
There is no harm that I am aware of - but it may not be considered necessary depending on the source. For example, some insurance providers will only reimburse after you're at a certain stage. I can tell you that if I or someone I love was diagnosed, I would get CGP immediately. Potentially avoiding a round of chemo that probably wouldn't even work... that's worth it to me.
sjg007 8y ago
Depends on the tumor/cancer type. If it doesn't inform the treatment protocol then it's basically only useful for knowledge. However, more information is always better and useful, especially in the future. So if you can do a CGP you should, or even better get complete sequencing done. But that latter is a 10k cost possibly more. Most cancer centers have a pipeline for treatment and also for research so usually you are in good hands. If a particular CGP is useful then they and the insurance will do it.

copperx 8y ago

Isn't this done by default at some cancer centers? When my mother was treated at MD Anderson they did a genomic sequence of the tumor. What's the difference between that and what your company does?

ed312 8y ago
Some pathology labs do simpler sets of tests in house (e.g. testing for alterations in one gene in one class of disease). CGP tests sequence many many more genes and call out far more variants in the DNA. Basically you might test negative for strep throat at a CVS, but you still have an infection
sjg007 8y ago
Yes some cancer centers do this for some cancers. Some also send out to Foundation medicine I believe. Foundation has their own specific panels which may be different than the cancer center etc...
- ed312 8y ago
  That's exactly correct - we're trying to partner with facilities as much as possible. On the other side - we're also trying partner with pharma companies to help find prospective patients for their trials. It's a really exciting time to be in this field since we're finally able to deliver on the promise of CGP, at scale, and at a reasonable cost. I'm just a software engineer but I find this stuff really cool!

rscho 8y ago

This is blatant self advertising of the worst kind. Saying late stage people should contact your company to identify advanced or even trial therapies! I strongly suggest that you take a course in medical ethics, so you can understand what is wrong about what you have written above and stop doing a disservice to already very sick patients. Addendum: https://news.ycombinator.com/item?id=15187747 https://news.ycombinator.com/item?id=15187747

cheeko1234 8y ago
Thank you for this comment. Edit: removed incorrect assumption about poster
- ed312 8y ago
  For what its worth, I'm just a software engineer and I gain nothing from this personally. (I don't even have shares or RSUs). I knew nothing about CGP when I got into this field so I'm generally pretty enthusiastic about telling people. I'm not running a super bowl add to take a magic pill - you actually can't even order this test on your own as far as I know - it has to come from a pathologist or oncologist.
  - cheeko1234 8y ago
    Fair enough. I believe you and will remove the snarky comment.
ed312 8y ago
From what I've heard lots of oncologists and pathologists are not up to date on CGP in general. We've had several patients come in to speak saying they only heard about CGP after getting a second or third opinion - otherwise they would have tried chemo and that was it. You really think its unethical to try to spread awareness of something that could help people?
- rscho 8y ago
  The way you are doing it? Yes, it is strictly unethical. You really think an oncology specialist would be unaware of that kind of thing? Specialists may have their reasons, or they even may be wrong, but as a software engineer, it really is not your call. The few comments you published here already reveal that your understanding of the implications of your advice is incomplete. Again, I respectfully but strongly suggest studying some medical ethics.

Balgair 8y ago

I couldn't find it on your website, but does your company sell/share any of your customer's genetic information or has your company received subpoenas for such information? Along those lines, does the EULA state that they can change the terms and conditions at any time without notice? 23&me is semi-notorious on HN for giving out genetic data to insurance companies, law enforcement, and other institutions. Thermo-Fisher is in a LOT of heat[0] for working with China to target ethnic minorities via genetic data and then sending those people to re-education camps. Will your company do the same? [0] https://www.nytimes.com/2019/02/21/business/china-xinjiang-uighur-dna-thermo-fisher.html https://www.nytimes.com/2019/02/21/business/china-xinjiang-u...