Hank Greely (J.D.) of Stanford Law School is now on stage, talking without a PowerPoint. That is interesting in itself… but his take on ethics of genome sequencing is direct and also interesting. He predicts that in 10 to 12 years, most people will have their whole genomes recorded in their medical records. To get there, there will need to be regulation of next generation sequencers because they will be, in a clinical setting, a medical device — says he. How good does your specificity have to be in a test to have a good — and ethically– predictive value — per machine? How can we be sure the sequence we get is the right sequence? How do you differentiate false positives? How do you validate accuracy? All questions to be answered. Still, he says he believes genomic scans will probably be a good thing.
Interpretation will be another major hurdle. It will also cost proportionately much more than the actual genomic sequencing.Who will do it? What if results differ with interpreters? Dr. Greely suggests creating the equivalent of an open discussion, wiki-like, of experts to consider the latest research in a transparent way. Then software could be developed based on this process. That software becomes — another medical device — needing – you guessed it – regulation.
If that all isn’t hard enough, then add the element of the patient. How much and what information do you return to patients? He is worried about people making bad decisions based on whole genome scans — and says expert guidance is needed. He suggests they be used only with prescriptions so there would be a physician involved. Ultimately information flowing back to the patient should be used under the traditional “do no harm” of medicine. And he suggests new inventions and methods be created to inform people of what they should focus on…and what they shouldn’t….and what they should talk about with their doctor and/or genetic counselor.
And then, genomes, he says, will have to be re-reviewed in light of new scientific discoveries and information. How do you do that and keep a patient up to date? Who keeps the information? Will there be a centralized database or “holding tank”? And how will confidentiality be ensured? And finally, who will own the information?
As Hank Greely said, there’s a lot to be done.