Snippets of tissue, vials of blood and tubes of DNA from hundreds of thousands of people sit in freezers and liquid nitrogen tanks right now in laboratories across the globe. They come from people like you and me, donated in the hope that our genes researchers will be able to glean insights for the next breakthroughs for diseases common and rare.
Whenever we sign a consent form and roll up our sleeve, we don’t just join the community of research. We also become part of a debate that has been raging among researchers, clinicians and ethicists for years: What if our DNA sequence turns up bad news unrelated to the research we signed up for?
“There is an emerging consensus among genomics researchers that we have an ethical responsibility to tell participants if we find, in the course of a research study, genetic variations that could impact their healthcare decisions,” says Kenneth Mandl, who directs the Intelligent Health Laboratory (IHL) in the Children’s Hospital Informatics Program (CHIP).
This responsibility can quickly turn into a numbers problem – a massive administrative burden. Consider that there are more than 104,000 human genetic variations now cited in the medical literature with links to human disease.