I recently read a study that analyzed the effects of direct-to-consumer genomewide profiling on customers of such services (link). Before I get into the study itself, some background is neccessary.
Arguably all diseases and disorders have a genetic component to them. For certain ones, such as cystic fibrosis, there is a clear genetic link. For other disorders, such as Parkinson's disease, the link is not so clear. These two disorders are at opposite ends of the spectrum.
Now consider something like high cholesterol. High cholesterol is a major health concern in the US. Diet and exercise influence cholesterol levels greatly, but there is an established genetic component as well. For some people, cholesterol levels are naturally elevated simply due to their genetic makeup. Such people may not know this, or may not know what to do about it.
This is where a genetic test can be helpful. Such tests can reveal underlying health information that would otherwise be unavailable. In theory, one can gain a better understanding of certain health risks through these tests. In the case of high cholesterol, if one sees that he is genetically at a higher risk than the general population, he could take action as a preventative measure.
Such is the theory, anyway. The problem is that this isn't what people do. The study found that few people made any life changes whatsoever after gaining insight into their genetic makeup. They also found that in the majority of cases, there was no substantial amount of additional anxiety due to the tests, although many people did share their tests results with a doctor. Part of this might be explained by the fact that the test group wasn't representative of the general population, but of people with more than a passing familiarity of such tests.
It cannot be emphasized enough that this was not the general population. I suspect that the general population would show a much greater degree of anxiety, with people taking improper actions in response to getting their tests results. Why do I think this? Because the general public doesn't understand what the results mean. Even for something relatively simple like cystic fibrosis, where one can or cannot have the disorder (with little in between), there can be confusion. Someone may find that he is a carrier of the allele that causes cystic fibrosis. This would mean that there is increased risk of one's offspring of having the disorder (assuming his mate's cystic fibrosis gene status is unknown). It does not, however, mean he has the disease, nor does it mean he will ever get the disease. That said, the expected reaction of the general public to seeing a positive result for anything involving cystic fibrosis would be of horror. This is not the proper response, but without anything else to go on, panic tends to be common.
I'm not trying to say that people are stupid, or anything like that. The study itself points out that even ~90% of doctors don't feel they have the necessary background to be able to understand and interpret the results of such genetic tests. This is not some systematic failure of education, but simply due to the fact that most doctors never need to know such information. It's just not part of the job description.
Everything previously mentioned assumes that the test makers are doing everything ethically and right. Of course, reality is something far different. Test makers know that there isn't a good general understanding of genetics, and they use this to their advantage to market products. For example, many of the genomewide tests test for very hazy things, such as diabetes or Parkinson's. We still don't know exactly what causes these diseases, and at best we have identified a fairly wide assortment of genes that seem to be linked to the disorders. As to how they are linked, we usually don't know. If we can't even decide if a gene is involved with a disease, how is knowing what allele we have for this gene helpful in determining our risk factor for the disease? Yes, there is a test, and it is looking for a specific allele, but we don't know what it means to have that allele. In this case, we get a result, but no one really has any clue what it means. To someone with no understanding, one sees "Diabetes....positive", and it leads to immediate panic and perhaps irrational decisions.
Many of these tests are in ethically murky territory. The companies making the tests are in it to make a profit, not to actually help anyone, though this isn't clear without a deep analysis of what they are testing. There are few lies, but lots of deception (personally I define lying as saying something one knows to be false, and deception as neglecting to say something one knows is true). Perhaps to save face, many companies offer genetic counseling after one receives test results. Now, the test may be a few hundred dollars, but usually the counseling is several hundred, if not over a thousand dollars. Even in the study, where genetic counseling was offered for free, most people didn't take advantage of these services. Personally, this baffles me, and the only thing that comes to mind is that the majority of the people in the (biased) sample set already had a thorough understanding of what the test results meant.
I think that there is good that can come of such testing, but it has to be well-regulated. The current system takes advantage of naive people for the sole purpose of profit, and they are very good at it. To expect a decent enough understanding of genetics for the general person to understand such tests is absurd; others must get involved for the purposes of genetic counseling. With regulation, there is hope for it, but in its current state it needs to be stopped completely.
(Random note: such testing is illegal in New York state, as one cannot see the results of a genetic test without being in the presence of a doctor, so that the doctor may explain the results.)
No comments:
Post a Comment