Where science and ethics meet
New project asks how to store genome data while respecting rights
ST. JOHN’S, N.L.— Genome sequencing offers patients the potential of speedier, more effective diagnoses and medications. But building a safe and secure system to store people’s unique genomic profiles is not a simple task.
Anew project out of Memorial University in St. John’s is consulting the public on how to store genomic information while still respecting people’s rights.
“When you are talking about storing genomes, storing people’s genetic and genomic data, you begin to think about, OK, how are we going to do that in a way that is ethical, respects privacy laws, and still allows patients and their families to hopefully benefit from this sort of research,” said Holly Etchegary, a lead researcher on the egenomics project.
She said an important step is ensuring the public understands what exactly a genome is. A full genomic sequence reads the complete, unique combination of a person’s DNA — what Etchegary calls “blueprints for our bodies.” Variations in each person’s sequence can reveal relevant information to physicians sorting out a diagnosis.
But the Memorial research team is carefully pondering the ethical considerations, like who has access to the data and how secure it is.
Last year, ransomware attacks in the U.K. resulted in hospital closures and raised global questions about the security of patient information. In June, the St. John’s project held the first meeting of its public advisory council.
Eleven members of the public ranging in age from 24 to over 65 met with researchers, a privacy consultant and representation from the province’s four health authorities to offer their thoughts on the possible risks and benefits of such a system and provide insight on how to ethically move forward with the project.
The advisory council identified possible benefits like reducing wait times for a diagnosis, identifying possible genetic disorders and offering more effective prescriptions.
But the council also raised questions about building a flex- ible, informed model of consent for participants, access and use of the data, and how long it would be stored. For example, would access be limited to the patient’s doctor or would it be possible for a pharmacist, employer or insurance company to see it?
Etchegary said the e-genomics project will start with uses that have been proven clinically effective, likely by applying genomic sequencing to pharmacogenomics, or drug therapy decisions. Etchegary said patients may react differently to many medications depending on variations in their genome.
It’s one clinical application of the technology that could mean speedier, better outcomes for patients and money saved for the health-care system.
“Our initial goal is to start there, in a place where we know has some clinical utility, and hopefully it really will make a difference to some of our patients,” Etchegary said.
“We do have to be cautious, we have to be realistic about this technology … it’s still fairly new … I think we’ll know more in a few years to come.”
Etchegary said the project’s next step will likely be a public survey across the province and a targeted survey with individuals who have experience with genetic testing, hopefully producing data by late next spring.