6 ms·

Expecting a contrarian article in 10 to 15 years that says the IVF genome analysis is imperfect and parents have been making incorrect decisions on flawed data.

whatshisface 5y ago
It only has to be better than random, right?
- jacquesm 5y ago
  Indeed. And it could be worse.
- TOMDM 5y ago
  Not necessarily, if the confidence of the prediction doesn't match the real odds of outcome. Parents may make special accommodations for the needs of children with genetic difficulties that they otherwise wouldn't based on their confidence in genetic screening.
areoform 5y ago
The error rate for sequencing is significant and can easily lead to incorrect assumptions + decisions, > The average error rate determined was 0.24 ± 0.06% per base and the percentage of mutated sequences was found to be 6.4 ± 1.24%. https://www.nature.com/articles/s41598-018-29325-6 https://www.nature.com/articles/s41598-018-29325-6
- topynate 5y ago
  Won't matter for highly polygenic traits. For monogenetic disorders like Tay-Sachs, it will provide another line of defence along with conventional pre-implantation screening and pre-natal screening.
  - TOMDM 5y ago
    I think what people are worried about is that parents may neglect to take measures they otherwise would based on overconfidence in genetic screening.
    - ravi-delia 5y ago
      Out of curiosity, what other measures might they neglect to take? I feel like I was sort of under the impression that the alternative is going in blind, but in retrospect I guess that's a somewhat silly assumption. Still, how likely is it that better genetic screening would have a net negative effect?
      - TOMDM 5y ago
        Here's where I'm at for the possible outcomes of a test for something like muscular dystrophy: True Positive: non-viable, next embryo/round of IVF False Positive: non-viable, next embryo/round of IVF True Negative: Cool, parents move ahead with a healthy (in this regard) child. False Negative: Parents move ahead with a false confidence. Going in blind for muscular dystrophy, parents may hedge their bets by ensuring they live close to a school that can deliver against their childs needs, housing that is accessable (no stairs, easily accessable etc.), setting aside money for healthcare. Of course the testing is only worse off in the case of a False Negative. I have no idea what the odds on that are, but I can imagine it'd be quite the shock for some people. In all I'm very bullish on the good IVF testing has the potential to do.

whatshisface 5y ago

It only has to be better than random, right?

jacquesm 5y ago
Indeed. And it could be worse.
TOMDM 5y ago
Not necessarily, if the confidence of the prediction doesn't match the real odds of outcome. Parents may make special accommodations for the needs of children with genetic difficulties that they otherwise wouldn't based on their confidence in genetic screening.

areoform 5y ago

The error rate for sequencing is significant and can easily lead to incorrect assumptions + decisions, > The average error rate determined was 0.24 ± 0.06% per base and the percentage of mutated sequences was found to be 6.4 ± 1.24%. https://www.nature.com/articles/s41598-018-29325-6 https://www.nature.com/articles/s41598-018-29325-6

topynate 5y ago
Won't matter for highly polygenic traits. For monogenetic disorders like Tay-Sachs, it will provide another line of defence along with conventional pre-implantation screening and pre-natal screening.
- TOMDM 5y ago
  I think what people are worried about is that parents may neglect to take measures they otherwise would based on overconfidence in genetic screening.
  - ravi-delia 5y ago
    Out of curiosity, what other measures might they neglect to take? I feel like I was sort of under the impression that the alternative is going in blind, but in retrospect I guess that's a somewhat silly assumption. Still, how likely is it that better genetic screening would have a net negative effect?
    - TOMDM 5y ago
      Here's where I'm at for the possible outcomes of a test for something like muscular dystrophy: True Positive: non-viable, next embryo/round of IVF False Positive: non-viable, next embryo/round of IVF True Negative: Cool, parents move ahead with a healthy (in this regard) child. False Negative: Parents move ahead with a false confidence. Going in blind for muscular dystrophy, parents may hedge their bets by ensuring they live close to a school that can deliver against their childs needs, housing that is accessable (no stairs, easily accessable etc.), setting aside money for healthcare. Of course the testing is only worse off in the case of a False Negative. I have no idea what the odds on that are, but I can imagine it'd be quite the shock for some people. In all I'm very bullish on the good IVF testing has the potential to do.