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A comment I left on a LessWrong post in July might help people understand why it is such a problem: The genome is the ultimate spaghetti code. I would not be a

A comment I left on a LessWrong post in July might help people understand why it is such a problem: The genome is the ultimate spaghetti code. I would not be at all surprised if some genes code for the direct opposite characteristics in the presence of other genes. It is going to take more than just running relatively simple correlation studies to untangle the functions of most genes. We are going to have to understand what proteins the genes code for and how the proteins work. Edited for clarity, eliminated a couple of ambiguous pronouns.

JunkDNA 14y ago
You're getting at the heart of the matter as far as the complexity, but just to put an even finer point on the it: A single gene sequence can code for many different alternate versions of the same protein. These different variations can have pretty wildly different biochemical properties. Furthermore, the protein products of a given gene varies by environment, ethnicity, organ, tissue, cell type, and stage of life (development, infancy, puberty, etc...). If that weren't daunting enough, many proteins have a secondary function of regulating their own production and the production of other (somehow related) proteins. This means that there are these highly complex interdependent feedback loops governing the activity and concentration of proteins. The closest programming analogy might be spaghetti of LISP-like macros that are themselves spaghetti code that writes LISP-like macros. But all that covers the basic research question of "how is this gene connected to human disease?". Even when you get past that, it's not so easy to know what results to supply back to patients. Do you tell the parents of an 8 year old who has had her genome sequenced that their daughter has a very high predisposition of getting cancer in her 40's? The daughter is too young to consent to hear that info. Now you're forcing the parents to make the choice for her. Not only that, even though the child is the one in for the test, the parents now (possibly without fully thinking it through) are recipients of information about themselves. All that because they wanted a genetic test to see why she's shorter than average.
- actsasbuffoon 14y ago
  While it's undoubtedly unpleasant to hear that you're more likely to get cancer than most people, that information could save your life. I'm not sure that I see a moral quandary here.
  - aggronn 14y ago
    In the off chance that it doesn't save their life, theres a great concern that it would significantly decrease her quality of life preceding a diagnosis. not just psychologically--theres insurance to worry about here too.
    - Dylan16807 14y ago
      Baseline chance of cancer is what, half? Finding out you're likely to get a specific kind should barely affect quality of life. It'll just tell you where to scan.
    - deleted 14y ago
      [deleted]
  - JunkDNA 14y ago
    It's about what people choose to know. There are many people who don't want to know about things they can't always do something about. Many people would rather live a carefree life than know they can get a particular disease. This is a point of view I have trouble wrapping my head around personally, but it can't just be discounted. My example is also a little more clear cut than most. There are many cases where it's not so definitive. Some of the risk calculations result in increases over the baseline for the population of 10%. What does that even mean? It's all pretty poorly understood. Hence there is a real desire to only report back the really strong data. But that unfortunately results in eliminating useful, but highly speculative data.

JunkDNA 14y ago

You're getting at the heart of the matter as far as the complexity, but just to put an even finer point on the it: A single gene sequence can code for many different alternate versions of the same protein. These different variations can have pretty wildly different biochemical properties. Furthermore, the protein products of a given gene varies by environment, ethnicity, organ, tissue, cell type, and stage of life (development, infancy, puberty, etc...). If that weren't daunting enough, many proteins have a secondary function of regulating their own production and the production of other (somehow related) proteins. This means that there are these highly complex interdependent feedback loops governing the activity and concentration of proteins. The closest programming analogy might be spaghetti of LISP-like macros that are themselves spaghetti code that writes LISP-like macros. But all that covers the basic research question of "how is this gene connected to human disease?". Even when you get past that, it's not so easy to know what results to supply back to patients. Do you tell the parents of an 8 year old who has had her genome sequenced that their daughter has a very high predisposition of getting cancer in her 40's? The daughter is too young to consent to hear that info. Now you're forcing the parents to make the choice for her. Not only that, even though the child is the one in for the test, the parents now (possibly without fully thinking it through) are recipients of information about themselves. All that because they wanted a genetic test to see why she's shorter than average.

actsasbuffoon 14y ago
While it's undoubtedly unpleasant to hear that you're more likely to get cancer than most people, that information could save your life. I'm not sure that I see a moral quandary here.
- aggronn 14y ago
  In the off chance that it doesn't save their life, theres a great concern that it would significantly decrease her quality of life preceding a diagnosis. not just psychologically--theres insurance to worry about here too.
  - Dylan16807 14y ago
    Baseline chance of cancer is what, half? Finding out you're likely to get a specific kind should barely affect quality of life. It'll just tell you where to scan.
  - deleted 14y ago
    [deleted]
- JunkDNA 14y ago
  It's about what people choose to know. There are many people who don't want to know about things they can't always do something about. Many people would rather live a carefree life than know they can get a particular disease. This is a point of view I have trouble wrapping my head around personally, but it can't just be discounted. My example is also a little more clear cut than most. There are many cases where it's not so definitive. Some of the risk calculations result in increases over the baseline for the population of 10%. What does that even mean? It's all pretty poorly understood. Hence there is a real desire to only report back the really strong data. But that unfortunately results in eliminating useful, but highly speculative data.