What is the aim of science? It might sound odd coming from someone who makes a living out of it but sometimes I do wonder what the aim of science after all. No, this is not a “science versus religion” sort of question that has popped into my brain. I am trying to look back on my modest experience in this field. I just am trying to make sense of what I have been unable to make sense of yet.
Take for example, the 1000 genome project which will eventually sequence a small proportion of about 1000 human genomes with high accuracy. Among the populations whose DNA will be sequenced are Yoruba in Ibadan, Nigerian, Japanese in Tokyo, Chinese in Beijing, Utah residents with ancestry from Northern and Western Europe, Luhya in Webuye, Kenyan, Maasai in Kinyawa, Toscani in Italy, Gujarati Indians in Houston, Chinese in metropolitan Denver, people of Mexican ancestry in Los Angeles, and people of African ancestry in southwestern U.S. It sounds fantastic and there is obviously a wealth of information that we can as scientists garner from such a study.
But wait- before you consider the ethics of this study -let me assure you that these people will be anonymous and will not have any medical information collected on them. In fact, “the scientific goals of the 1000 Genomes Project are to produce a catalog of variants that are present at 1% or greater frequency in the human population across most of the genome and down to 0.5% or lower within genes”. In lay man terms it means, by the end of this study we will have a capacity to look at variations in a particular stretch of DNA across different populations. So what will that information mean? If I know which sequence variation is associated with say diabetes in a certain population, I would be able to better predict your risk of getting diabetes if you happen to have that sequence variation AND if you happen to belong to that particular population. I know the smarter ones among you have already figured there is a missing piece here. If you collect no medical information, what inferences can you make about the variations apart from say frequency of these variations in a given population? None in this study. So what’s the point? - It is a pilot study. This will give us the opportunity to build capacity to do cool stuff that I just mentioned. But wait, the reason they won’t be collecting medical information is because they haven’t figured out the ethical issues yet (I think).
Ethical issues such as: should I be charged a zillion dollars more by my insurance company because I happen to be an African with a particular variation which has been shown to be associated with (say) diabetes in 80% of that population? Or worse, will I never get insurance? More than that, will the doctor be required to tell me even though I am asymptomatic that I can develop this at one point in my life? If he does, how will I survive? If he doesn’t, is he being fair to his profession? You get the picture. We don’t know at this time whether such problems will manifest in future. What we do know is we don’t know how to deal with them if they arise. And don’t get me wrong here; I think it will really be invaluable in understanding and hopefully finding treatments for a number of diseases. But here we have a group that is equipped to open this pandora’s box. Is the very essence of science this impartial observation? One that doesn’t look at the consequences of the observation? Let me know if any of you have a clue. In the meanwhile, I am praying that Gujarati Indians in Houston are genetically far removed from other NRIs.
