A good in-depth overview piece of some of the issues around genetic testing related to the Canadian Personal Genome Project, a study of about 100,000 people linking genetic information to the background and environmental of participants. Covers some of the ethical and privacy issues related. Most interesting aspect for me was the definition of normal, indicating the limits of our knowledge:
A parade of researchers took to the podium, describing the quirks they were spotting in the genomes of perfectly healthy folks: swaths of deleted code, hundreds of thousands of extra bits, chromosome pairs that did not match, and inverted chromosomes of all sorts, inside out and backward.
“What the heck is normal?” one of the experts joked. Most agreed they could not know without a grand stockpile of genomes to reference. People were making critical medical decisions with only half the story.
Seven years later, that’s still true. Even in Dr. Scherer’s own lab, where he and his team are focused on solving the genetic mystery of autism, it can be tricky to tell when they have spotted a meaningful mutation – there are too few control genomes for comparison. Recently, he had no choice but to use his own DNA as a control.
“It’s a big problem for any genetic study,” he says – and worse for anyone studying patients from non-European ancestry, for whom control data are virtually non-existent. Genomes can vary dramatically between ethnic groups, but without a large bank of data drawn from different populations, researchers cannot tell what is common and what isn’t.
And a related story from the UK where Britain has taken a more targeted approach to mapping the genetics of Britons suffering from cancer and rare diseases to help development of future treatment.