What Does Understanding Human Genetics Have To Do With Animals and the Mission of NAVS?
August 10, 2012
Dr. Pam Osenkowski, Director of Science Programs
What does understanding human genetics have to do with animals and the mission of NAVS?
Three weeks ago, I attended a meeting called the “1000 Genomes Project Community Meeting” in Ann Arbor, Michigan. The two-day conference, held at the University of Michigan campus on July 12-13, 2012, brought together individuals on the forefront of genomics research. The 1000 Genomes Project is famous in the scientific community because it is the first project that sequenced genomes (all of the DNA) of many individuals and has produced the world’s largest set of data on human genetic variation. Researchers met to talk about better ways to generate and analyze these DNA sequences and also discussed how data from this project is advancing our understanding of human disease. This project collected genetic information from individuals all around the world, and perhaps most importantly, made the genetic data free, easily accessible, and useful to all researchers – thanks to the power of the internet. With this wealth of information -- coming from human data -- so readily available, researchers around the world now have an amazing tool from which we can all learn about human diseases and populations.
While I was in Michigan, which is where I am from originally, I had dinner with my parents after the conference ended, and we talked about some of the highlights from the meeting. During our conversation, my dad interrupted me with a simple, but important question. He said, “How exactly does the genetic information from humans help with NAVS’ mission of advancing science without harming animals? How does this help the animals? I don’t understand the connection.” And many of you may be wondering the same thing.
The way I explained it to my dad is think about how different we are from animals. There are obvious anatomical differences, differences in size and shape. But there are also really important differences on a smaller level, at the level of DNA for instance. Because advancements in technology are allowing us to sort through DNA today in ways that we have not been able to do before, we are learning so much about the effect that tiny genetic variations have – and in some cases, these effects are very important. For instance, these changes in human DNA from one person to another contribute to why we are different from one another, and why I may get a disease and you won’t; why you may respond to medication, and I might not. These tiny changes in DNA can even allow physicians to make good predictions about which drugs (and at which doses) may work for us in some cases. Did you know that the FDA already recognizes that understanding the genetic makeup of an individual can enhance the safety and effectiveness of the medication they take? A number of drug labels have information about the specific actions that should be taken based on an individual patient’s genetic information.
So while the great majority of us have not had a genetic screen done prior to receiving common medications, like Coumadin, there is data supporting the idea that such information is useful to physicians prescribing the medication, to ensure that they give you the right dose for how your body will process the drug, rather than some generic dose that may not be as helpful or effective for you. In addition to reducing the potential for adverse drug reactions, tailored therapy could also reduce the amount of times patients have to go back to their doctor to have their dose of medicine changed and have it optimized in the first place. Hospitals and doctor’s practices are transitioning over to using electronic medical records, which will compile a person’s complete medical history and store it in a secure database made available to other clinicians anywhere. One can imagine that our electronic medical records could also link to our genetic information, when collecting it becomes a more routine part of our medical care, and provide physicians with additional data to consider when treating patients. Although it will take some time for genetic information to become more commonly integrated into clinical practice, we are moving in that direction.
How does this related to NAVS mission and animals? Because the genetic differences between humans and other animals are much greater than the differences between humans themselves, now more than ever, we are starting to appreciate why there are problems extrapolating data from animal experiments to people. If anything, knowledge from research like the 1000 Genomes Project will enlighten scientists about the effect of genetic variation in humans, and indirectly, allow us to appreciate why we shouldn’t rely so heavily on animal models. Studies like this should drive the development of human-relevant models, models that examine the effect of the genetic variations that we identify through these kinds of studies – in models that are relevant to humans.
The reality is there is no better way to learn about humans than by studying humans. It doesn’t make sense to focus our efforts on another species, who by nature of being another species, are very different from humans on a number of levels, making these other species very unlikely to predict what would happen in people. The work that researchers are doing in the realm of genomics is beyond impressive. These individuals are working out the kinks of DNA sequencing and analysis and building accurate and easily accessible resources of information from which we will continue to advance science and understand human health better -- in ways that do not have to include animal models. We are at the very beginning of an exciting time of seeing the implications from this work, and I really look forward to the way that human genetic information is going to revolutionize the fields of both basic and medical science.