5 ms·

And yet the era of being able to do anything really useful with the information has yet to arrive.

by mattnewport 4y ago

cjbgkagh 4y ago
That future is just not evenly distributed yet.
- jjtheblunt 4y ago
  that's an excellent way to put it (seriously)
pfdietz 4y ago
Sequencing cancer cell genes is quite common now, to determine just what kind of cancer is there and which treatments are appropriate.
- dominotw 4y ago
  GP probably meant for completely healthy people who are the target audience for doing these . Also the cancer drugs like PARP inhibitors seem to be helping everyone regardless of mutation status in clinical trials. So the connection is much less clear.
  - pfdietz 4y ago
    There are many cancer drugs that target mutations in specific proteins. Just what treatment will be given for a cancer often depends on what's been mutated.
    - dominotw 4y ago
      > Just what treatment will be given for a cancer often depends on what's been mutated. What I was saying was that those drugs have been proving effective regardless of mutation status. So mutation x = give drug Y connection is not really well understood. Example, olaprib for Prostate cancer > the addition of olaparib was associated with a significantly prolonged radiographic PFS irrespective of HRR status https://www.practiceupdate.com/content/asco-gu-2022-propel-suggests-adding-olaparib-to-abiraterone-improves-outcomes-in-castration-resistant-prostate-cancer-regardless-of-homologous-recombination-repair-status/132359 https://www.practiceupdate.com/content/asco-gu-2022-propel-s...
      - pfdietz 4y ago
        > What I was saying was that those drugs have been proving effective regardless of mutation status. I don't believe this is the case in general. Indeed, all cancer drugs fail sometimes, and there has to be something different about the cancers they fail on. If not the mutation status, then what?
        dominotw 4y ago
        I am not quite sure how to respond to 'I don't believe' response. Even FDA is approving these mutation targeting drugs without mutation status. Niraparib was approved for Ovarian Cancer even if you don't have HRD mutations. Approval was based on NOVA trial, you can lookup the details. I am not saying there isn't any connection, what I am saying is it not really well understood or clearcut as mutation x = drug y that general public believes about these drugs.
Der_Einzige 4y ago
Clustering, dimensionality reduction, frequent pattern matching can get you a lot of the way there.
mbreese 4y ago
Rare disease diagnosis, newborn screening, molecularly targeted cancer therapies… We’re starting to get some good utility from sequencing. Currently whole exome is more informative than whole genome. But, there are definitely some good clinical uses!
- sacul 4y ago
  My daughter has a rare genetic disorder, cardiofaciocutaneous syndrome (CFC), and it was not until 2 years in that we were able to get a diagnosis after a whole gene sequence. It was game-changing to get the diagnosis, because it connected a to a community and to doctors who could help. https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome https://rarediseases.info.nih.gov/diseases/9146/cardiofacioc...
FollowingTheDao 4y ago
This is the biggest misconception. I have literally reverse my hyperlipidemia, hypertension, and been able to get off all of my meds for my schizoaffective Bipolar Disorder because of what I have learned from my genetics and changing my diet/lifestyle to suit what my body needs. Just because doctors do not know what to do with it (they are decades behind most research) it does not mean you cannot learn about this and take action on your own. Just knowing my FADS1, FADS2 genetics was enough to change my diet to seafood only and raise my HDL from a consistent 35 to over 55 in three weeks. Doctors put me on a statin which lowered my HDL to 25.
- dominotw 4y ago
  > seafood only and raise my HDL Seafood helps everyone with HDL. Is 35 -> 55 not possible with those genes that you mentioned ?
  - FollowingTheDao 4y ago
    It was not only those genes, but omega 3 is crucial for what’s called reverse cholesterol transport. So I’m sure it might help anyone, I just need more help. https://pubmed.ncbi.nlm.nih.gov/28984832/ https://pubmed.ncbi.nlm.nih.gov/28984832/

And yet the era of being able to do anything really useful with the information has yet to arrive.

cjbgkagh 4y ago

That future is just not evenly distributed yet.

jjtheblunt 4y ago
that's an excellent way to put it (seriously)

pfdietz 4y ago

Sequencing cancer cell genes is quite common now, to determine just what kind of cancer is there and which treatments are appropriate.

dominotw 4y ago
GP probably meant for completely healthy people who are the target audience for doing these . Also the cancer drugs like PARP inhibitors seem to be helping everyone regardless of mutation status in clinical trials. So the connection is much less clear.
- pfdietz 4y ago
  There are many cancer drugs that target mutations in specific proteins. Just what treatment will be given for a cancer often depends on what's been mutated.
  - dominotw 4y ago
    > Just what treatment will be given for a cancer often depends on what's been mutated. What I was saying was that those drugs have been proving effective regardless of mutation status. So mutation x = give drug Y connection is not really well understood. Example, olaprib for Prostate cancer > the addition of olaparib was associated with a significantly prolonged radiographic PFS irrespective of HRR status https://www.practiceupdate.com/content/asco-gu-2022-propel-suggests-adding-olaparib-to-abiraterone-improves-outcomes-in-castration-resistant-prostate-cancer-regardless-of-homologous-recombination-repair-status/132359 https://www.practiceupdate.com/content/asco-gu-2022-propel-s...
    - pfdietz 4y ago
      > What I was saying was that those drugs have been proving effective regardless of mutation status. I don't believe this is the case in general. Indeed, all cancer drugs fail sometimes, and there has to be something different about the cancers they fail on. If not the mutation status, then what?
      - dominotw 4y ago
        I am not quite sure how to respond to 'I don't believe' response. Even FDA is approving these mutation targeting drugs without mutation status. Niraparib was approved for Ovarian Cancer even if you don't have HRD mutations. Approval was based on NOVA trial, you can lookup the details. I am not saying there isn't any connection, what I am saying is it not really well understood or clearcut as mutation x = drug y that general public believes about these drugs.

Der_Einzige 4y ago

Clustering, dimensionality reduction, frequent pattern matching can get you a lot of the way there.

mbreese 4y ago

Rare disease diagnosis, newborn screening, molecularly targeted cancer therapies… We’re starting to get some good utility from sequencing. Currently whole exome is more informative than whole genome. But, there are definitely some good clinical uses!

sacul 4y ago
My daughter has a rare genetic disorder, cardiofaciocutaneous syndrome (CFC), and it was not until 2 years in that we were able to get a diagnosis after a whole gene sequence. It was game-changing to get the diagnosis, because it connected a to a community and to doctors who could help. https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome https://rarediseases.info.nih.gov/diseases/9146/cardiofacioc...

FollowingTheDao 4y ago

This is the biggest misconception. I have literally reverse my hyperlipidemia, hypertension, and been able to get off all of my meds for my schizoaffective Bipolar Disorder because of what I have learned from my genetics and changing my diet/lifestyle to suit what my body needs. Just because doctors do not know what to do with it (they are decades behind most research) it does not mean you cannot learn about this and take action on your own. Just knowing my FADS1, FADS2 genetics was enough to change my diet to seafood only and raise my HDL from a consistent 35 to over 55 in three weeks. Doctors put me on a statin which lowered my HDL to 25.

dominotw 4y ago
> seafood only and raise my HDL Seafood helps everyone with HDL. Is 35 -> 55 not possible with those genes that you mentioned ?
- FollowingTheDao 4y ago
  It was not only those genes, but omega 3 is crucial for what’s called reverse cholesterol transport. So I’m sure it might help anyone, I just need more help. https://pubmed.ncbi.nlm.nih.gov/28984832/ https://pubmed.ncbi.nlm.nih.gov/28984832/