DIY Genomics

[ecoli]

This is an issue that's pretty important to me, as a 23andme subscriber. However, groups like the AMA are trying to convince the government that people don't have the requisite skills to understand the implications of genetic information (understanding disease risk factors and so forth). While this is true for most people, I don't think I'd be remiss to say that, as a PhD student in biomedical science, I don't need a doctor to teach me about genetics. Especially considering, AFAIK, genetics is not covered all that well in medical schools.

 

In fact, I imagine that most people who are interested in their own genes probably know how to find the resources to learn about and interpret genetics.

 

Furthermore, if I really thought this was about making sure people don't go into this uninformed, then I'd be more inclined to agree. But this is really about the AMA protecting the financial interests of physicians. Cheap sequencing could hurt them financially, b/c really people don't need them for this.

 

Razib Khan says it well:

 

In the very near future you may be forced to go through a “professional” to get access to your genetic information. Professionals who will be well paid to “interpret” a complex morass of statistical data which they barely comprehend. Let’s be real here: someone who regularly reads this blog (or Dr. Daniel MacArthur or Misha’s blog) knows much more about genomics than 99% of medical doctors. And yet someone reading this blog does not have the guild certification in the eyes of the government to “appropriately” understand their own genetic information. Someone reading this blog will have to pay' date=' either out of pocket, or through insurance, someone else for access to their own information. Let me repeat: the government and professional guilds which exist to defend the financial interests of their members are proposing that they arbitrate what you can know about your genome. A friend with a background in genomics emailed me today: “If they succeed in ramming this through, then you will not be able to access your own damn genome without a doctor standing over your shoulder.” That is my fear. Is it your fear? Do you care?[/quote']

[imatfaal]

I kinda agree with you and the blog quote - one possible reason to keep genetic information in the hands of Doctors only is the legal implications. Doctor patient confidentiality is fairly strong and reasonably well-respected and the Doctor should be able to be relied upon to be an honest intermediary. Without that confidentiality and honest broker I can envisage a new bred of sequence-chasers who persuade any poorly-educated person with a sequence that "this" indicates a propensity for "that" - and I can sell you a nice preventive "medicinal compound".

 

I am not claiming Doctors are immune from this form of behaviour, but I do think it might make a sensible safety net. But like any safety-net, it should be one you can opt out of, once proper advice has been received.

[CharonY]

This is not quite trivial. Genomic data is hugely complex and its implication as a whole is, not comprehensible to anyone right now (certain piecemeal exempted).

The current risk assessment using genomic markers is quite unreliable on the whole and even academic professionals in that area trip up on a regular basis when it comes to the assessment of biomarkers. So my basic concern is really about anyone trying to make health assessment using genomic data except for those that have been well established.

I am especially concerned that someone would eventually try to make risk assessments based on association studies. While I am generally all for free sharing of information, my feeling (as evidenced by literature) is that using that data you are going to be wrong more often than not.

 

Again, exceptions are markers with well known functional associations. But then one could identify them easily with a limited test rather than with sequencing (especially with a lower error rate).

[ecoli]

This is not quite trivial. Genomic data is hugely complex and its implication as a whole is, not comprehensible to anyone right now (certain piecemeal exempted).

The current risk assessment using genomic markers is quite unreliable on the whole and even academic professionals in that area trip up on a regular basis when it comes to the assessment of biomarkers. So my basic concern is really about anyone trying to make health assessment using genomic data except for those that have been well established.

I am especially concerned that someone would eventually try to make risk assessments based on association studies. While I am generally all for free sharing of information, my feeling (as evidenced by literature) is that using that data you are going to be wrong more often than not.

 

Again, exceptions are markers with well known functional associations. But then one could identify them easily with a limited test rather than with sequencing (especially with a lower error rate).

 

Yeah there are definitely two separate issues here.

 

I think the point is, while we know GWAS studies tend to be weak evidence, how much better are physicians and health professionals at interpreting this data than a DIY non-professional? Yeah the data is mostly limited in usefulness, but it's certainly a starting point to get further testing. And doing this without the initial guidance of a physician is cheaper.

 

The second issue, is do people have a right to sequence their own genome without having a doctor looking over their shoulder? It seems as if the right to view you're genetic makeup should be unencumbered by false paternalism. It's already illegal in a few states, including the one I live in, though I did it anyway.

 

Oh, the other question I have is will the GWAS stuff ever get better? My instinct says that it won't.

[Blahah]

If someone wants their own genome sequenced, and the USA is too restrictive, they can always get it done by a company outside the USA. I agree that many amateurs will be equally or better able to interpret their own genetic data than medical doctors, but again, it will only really affect the majority of people who aren't able to do it themselves. If you are resourceful enough to do your own analysis you are probably resourceful enough to send abroad for the sequencing.

[CharonY]

I do not think that sequencing is really an issue per se. As long as the service is provided with a disclaimer that the data should not be used for diagnostic purposes. For the latter definitely a consultation with a physician would make sense as they could recommend additional tests.

It is likely, however, that sequence services may sell the sequence as a kind of personalized diagnostics, something that we are not going to get anytime soon.

 

Proper physicians should acknowledge that currently the genome(again, with the exception of the available and properly validated biomarkers) offers only little diagnostic value.

 

Regarding GWAS, there are statistical issues that almost always result in a vast overestimation of effects. Based on my experience this is not going to change in population studies, without additional molecular data. It all boils down to costly and time intensive validation studies. That, however is not done often enough due to time and money constraints as the outcome is often questionable due to the aforementioned issues. Currently GWAS studies far outweigh validation studies. And the latter are often too limited to provide sufficient statistical evidence.