With individual genome information at our fingertips, the question of “how much information is too much” is coming into play. It is not that we shouldn’t have access to all of our genomic data, it’s that our genome has the potential to share information about our health that perhaps there is no current means to treat or prevent, or information that we really were not expecting to uncover. The latter is known as an “incidental finding”. An incidental finding occurs when you are looking for one thing and happen to find another, for instance your genome was sequenced in part to search for a breast cancer mutation, and in sequencing you discover you also carry a mutation for colon cancer (which, I hope, is not the case for those of you reading this).
Not all incidental findings are bad though, or even meaningful. To practice genomic medicine responsibly, scientists need to know how to proceed with incidental findings. So, what is the likelihood of coming across these incidental findings, and how do we address them? This is the question one group focused on in a recent article in the American Journal of Human Genetics. The authors point to the fact that there has to-date been no large scale study in place to answer this question. In their attempt, they sequenced 1,000 participants’ genomes and incidentally identified amongst this group over 200 genetic variants that could be considered disease-causing.
However, having one disease causing variant does not mean a person will develop an illness. Rather, more work is required to figure out if these variants in their given combinations will actually cause illness in an individual. Knowing about a variant that won’t have a real effect on you would only lead to some short-term anxiety and undue stress. We are now opened up to a new world of understanding how our DNA affects our health and there is no going back. In order to do this dutifully, we need to have access to consequential, actionable findings. These scientists, and others, are working to identify, classify, and catalogue such genetic variants. To download the full journal article, click here.