4 ms·

I know, but the dominant trend was to (try to) predict diseases by calculating genetic risk scores, ignoring any environmental contributions. This trend is eve

by nextos 3y ago

I know, but the dominant trend was to (try to) predict diseases by calculating genetic risk scores, ignoring any environmental contributions. This trend is even known as genetic determinism. There is a whole generation of senior academics who are fiercely attached to this line of thought.

klipt 3y ago
How much better could you predict if you sequence both DNA and samples of expressed RNA from various parts of the body?
dekhn 3y ago
Personally I think nyssos's explanation (that disease is a complex function of the joint distribution of genotype and environment) is still more convincing, and that the reason environment temporarily got more attention is simply that our ability to understand causality of disease in non-mendelian contexts is still very limited (it being an extremely complex function). I've worked in this field for a while and continuously get into arguments with geneticists, part of that is because I simply don't understand the explanations genetics gives (I'm a molecular biologist and computer scientist; the difference is that genenticists treat genotype to phenotype as a black box, while molecular biologists see it as an event system), but another part of it is that most scientists are highly susceptible to the streelight effect, and genetics is something tangible you can easily measure in the lab, while environment is... much more complicated.
- sizzle 3y ago
  Do you work as a computational biologist? I think the problems these scientists are trying to solve with computing power is fascinating. I’m working on human biomolecular data viz tools in a consortium of academic labs (Harvard, CMU, etc.) funded by the NIH. I really enjoy working with computational biologist. More info here if anyone is interested to collab or learn more, please reach out: https://www.nature.com/immersive/d42859-023-00019-y/index.html https://www.nature.com/immersive/d42859-023-00019-y/index.ht... https://portal.hubmapconsortium.org/ https://portal.hubmapconsortium.org/ (not mobile friendly)
- biomcgary 3y ago
  I agree with your perspective, but would add a little nuance. I think the molecularly-mediated version of genetics is promising (e.g., Transcriptome Wide Association Studies, or TWAS). It breaks out of the black box a little, but still enriches for causal associations that purely mechanistic approaches miss. Pure molecular mechanism has a hard time tracing from cells to organismal phenotype at age 60 in a varied environment.

by nextos 3y ago

klipt 3y ago

How much better could you predict if you sequence both DNA and samples of expressed RNA from various parts of the body?

dekhn 3y ago

Personally I think nyssos's explanation (that disease is a complex function of the joint distribution of genotype and environment) is still more convincing, and that the reason environment temporarily got more attention is simply that our ability to understand causality of disease in non-mendelian contexts is still very limited (it being an extremely complex function). I've worked in this field for a while and continuously get into arguments with geneticists, part of that is because I simply don't understand the explanations genetics gives (I'm a molecular biologist and computer scientist; the difference is that genenticists treat genotype to phenotype as a black box, while molecular biologists see it as an event system), but another part of it is that most scientists are highly susceptible to the streelight effect, and genetics is something tangible you can easily measure in the lab, while environment is... much more complicated.

sizzle 3y ago
Do you work as a computational biologist? I think the problems these scientists are trying to solve with computing power is fascinating. I’m working on human biomolecular data viz tools in a consortium of academic labs (Harvard, CMU, etc.) funded by the NIH. I really enjoy working with computational biologist. More info here if anyone is interested to collab or learn more, please reach out: https://www.nature.com/immersive/d42859-023-00019-y/index.html https://www.nature.com/immersive/d42859-023-00019-y/index.ht... https://portal.hubmapconsortium.org/ https://portal.hubmapconsortium.org/ (not mobile friendly)
biomcgary 3y ago
I agree with your perspective, but would add a little nuance. I think the molecularly-mediated version of genetics is promising (e.g., Transcriptome Wide Association Studies, or TWAS). It breaks out of the black box a little, but still enriches for causal associations that purely mechanistic approaches miss. Pure molecular mechanism has a hard time tracing from cells to organismal phenotype at age 60 in a varied environment.