Grant: CIHR Café Scientifique Program

Many of us have lab tests for something like cholesterol level. We expect the result to describe that particular problem. But what if the test also reveals a different, unrelated issue? What if it finds an increased risk of cancer or risk of developing an untreatable dementia? This is the possible scenario with a test now being introduced: genomic sequencing. This new technology can examine our entire genome (all the genetic material in our cells). Let's say a person has multiple seizures or intellectual disability of no known origin. If a doctor suspects a genetic cause, the individual may be sent for genomic testing. BUT... each one of us carries a number of genes for problems that may or may not show up in our lifetimes. A mutation in these genes may put us at an increased risk of cancer, heart disease, dementia, or a variety of other problems. Or they might predispose to happy old age! These are the gnomes of genomic testing. Right now, there are no guidelines regarding what the lab should tell the doctor or what the doctor should tell the patient about these unexpected results. They are "incidental" to the lab or doctor but may not seem so "incidental" to the patient. Would you want to know? A further complexity is that because genomic testing is so new, geneticists do not always know the significance of all findings. This knowledge will come in time, but what should we do with this information now? Technology has got ahead of us. There has been little discussion among geneticists and no input from the general public regarding the implications of genomic testing. Now is the time for public involvement and guidance. Come and help us to discuss these difficult but fascinating societal issues.