"the service can't use its genetic testing to give you a heads-up about upcoming disease in your physiology, which is one of the big sells of 23andMe"
Nonsense - I have a common variant of one blood clotting factor known to be responsible for a greatly increased risk of deep vein thrombosis and life threatening pulmonary embolisms. My mother has the same autosomal dominant gene.
She was hospitalized for DVT and PE following a knee surgery, was genetically tested and found positive.
23andme identified me as being a carrier of said mutation and followup genetic sequencing confirmed the diagnosis.
Now I know, with certainty, that I must periodically get up and move around during long car rides and plain flights or risk a life threatening event.
Health-related discoveries aside, there are countless things to be analyzed from 23andme data, including ancestry and data mining for correlation with biometrics (imagine being able to reconstruct facial images based on dna samples alone).
There are always hypercritical crankpots to speak out against any new technology. If only these people would imagine constructive ways to make use of this so-called "useless" data.
I was with you until your last paragraph. You're not a "crankpot" if you're pushing for rigorous scientific research and transparency. Yes, there are currently identifiable alleles that indicate specific diseases or predispositions, but there are a whole multitude of factors beyond the basic, linear assembly of nucleotides that contribute to the development of a disease – epigenetics being a big one at the moment.
The tech is definitely cool and a step forward in delivering a detailed and granular view of disease predisposition, but that view certainly does not give you the entire picture.
You're right of course. There are certainly other factors, and scientific rigor is a Good Thing (tm).
However, I've found that the older the scientist, the more his or her disposition to say "no" to new ideas - either because the idea is untested or because it flies in the face of their already preconceived biases they've been amassing over their lifetime.
It's often said that science advances funeral by funeral. I think it's more of an indictment about human nature, and the nature of aging, than any particular individual.
When I was an undergraduate, I mentioned 23andme in class - the class had 3 professors. The oldest professor was completely against it: "Why would anyone want their SNPs mapped? It would be useless, at best, and potentially dangerous." The youngest professor was enthusiastic and optimistic about the future: "How much and where do I sign up?", and the middle aged professor was somewhere in between: "The data probably isn't very useful right now, and I think I'll wait until it comes down in price."
Of course, without people pushing the boundaries, and amassing the data, there would be no discoveries. There is nothing wrong with scientific rigor, but I come down hard against those who allow rigor to get in the way of discovery. Sometimes anecdotes are the basis of major discoveries - not all studies need to start out double-blind with huge sample sizes, but the important ones should definitely end up that way.
The tech is definitely cool and a step forward in delivering a detailed and granular view of disease predisposition, but that view certainly does not give you the entire picture.
23andMe makes a very good job of notifying you about this per disease they have markers for.
Comments
"the service can't use its genetic testing to give you a heads-up about upcoming disease in your physiology, which is one of the big sells of 23andMe"
Nonsense - I have a common variant of one blood clotting factor known to be responsible for a greatly increased risk of deep vein thrombosis and life threatening pulmonary embolisms. My mother has the same autosomal dominant gene.
She was hospitalized for DVT and PE following a knee surgery, was genetically tested and found positive.
23andme identified me as being a carrier of said mutation and followup genetic sequencing confirmed the diagnosis.
Now I know, with certainty, that I must periodically get up and move around during long car rides and plain flights or risk a life threatening event.
Health-related discoveries aside, there are countless things to be analyzed from 23andme data, including ancestry and data mining for correlation with biometrics (imagine being able to reconstruct facial images based on dna samples alone).
There are always hypercritical crankpots to speak out against any new technology. If only these people would imagine constructive ways to make use of this so-called "useless" data.
Innovate people.
I was with you until your last paragraph. You're not a "crankpot" if you're pushing for rigorous scientific research and transparency. Yes, there are currently identifiable alleles that indicate specific diseases or predispositions, but there are a whole multitude of factors beyond the basic, linear assembly of nucleotides that contribute to the development of a disease – epigenetics being a big one at the moment.
The tech is definitely cool and a step forward in delivering a detailed and granular view of disease predisposition, but that view certainly does not give you the entire picture.
You're right of course. There are certainly other factors, and scientific rigor is a Good Thing (tm).
However, I've found that the older the scientist, the more his or her disposition to say "no" to new ideas - either because the idea is untested or because it flies in the face of their already preconceived biases they've been amassing over their lifetime.
It's often said that science advances funeral by funeral. I think it's more of an indictment about human nature, and the nature of aging, than any particular individual.
When I was an undergraduate, I mentioned 23andme in class - the class had 3 professors. The oldest professor was completely against it: "Why would anyone want their SNPs mapped? It would be useless, at best, and potentially dangerous." The youngest professor was enthusiastic and optimistic about the future: "How much and where do I sign up?", and the middle aged professor was somewhere in between: "The data probably isn't very useful right now, and I think I'll wait until it comes down in price."
Of course, without people pushing the boundaries, and amassing the data, there would be no discoveries. There is nothing wrong with scientific rigor, but I come down hard against those who allow rigor to get in the way of discovery. Sometimes anecdotes are the basis of major discoveries - not all studies need to start out double-blind with huge sample sizes, but the important ones should definitely end up that way.
The tech is definitely cool and a step forward in delivering a detailed and granular view of disease predisposition, but that view certainly does not give you the entire picture.
23andMe makes a very good job of notifying you about this per disease they have markers for.
> Nonsense - I have a common variant of one blood clotting factor known...
k.
"Of course, this is one study and one disease, and maybe other stuff will come out that validates the approach. (I have no dog in this fight)"