To SHARE or not to share
‘Do you want us to keep you on file? Genetic testing and the ethics of genome storage’ subject of professor’s presentation
The debate rages on for ethical, legal and social aspects of genome sequencing and its ultimate use.
Everyone has a genetic code that is as personal to the individual as a fingerprint. That code is the roadmap of who you are. Unless you are an identical twin, there is no match.
Somewhere within that DNA, there is a map or link to a wealth of information. Doctors and scientists are using genomic sequencing more often in their research to try to target the causes of hereditary diseases and ultimately improve patients’ health.
Those tests are happening in medical centres worldwide to try to curb heart disease, diabetes and cancer, among others.
But who owns the code after it is sequenced, and where will it be stored?
These questions and a host of others will be discussed at the Translational and Personalized Medicine Initiative (TPMI) for a healthy dose of research at the Science, Health and Research Education (SHARE) summit Oct. 11 in the main auditorium of the faculty of medicine in the Health Sciences Centre in St. John’s.
Holly Etchegary, an assistant professor with Memorial University’s clinical epidemiology unit in the faculty of medicine, will make a presentation titled “Do you want us to keep you on file? Genetic testing and the ethics of genome storage.”
Etchegary will outline how advancements in genetic sequencing technologies at Memorial can facilitate personalized
and precision medicine, and the impact of privacy legislation and public opinion on this work.
She said it is important to use sequencing technologies to the best potential for the benefit of the patients. Patients and health care providers are most interested in clinically actionable results.
“These give us the best chance to see improved patient outcomes,” Etchegary said.
“The public, as users of the health care system — patients — should be heard. The opinions and concerns of the ultimate end users of sequencing technologies should have a voice in how sequencing is used in our province.”
As a GELS (genetics ethical, legal and social issues) researcher, Etchegary’s research
interests lie in the area of genetics health services and new genomic technologies.
Public engagement with new technologies, including genomic sequencing, in addition to the psychosocial effects and ethical implications of genetic risk, for both patients and families, are of particular research interest.
“We formed a 12-person public advisory council on genomics who met on June 2 in St. John’s,” she said.
“Our committee talked about whole genome sequencing in both high-risk individuals, but also in healthy people.”
“The debate is … is that a good source of resources? Some say yes. Some say no. The clinical utility in healthy individuals at the current time is questionable,” she said.
“Sequencing can show potential risk of having any number of health issues, not all of which are currently treatable or preventable.”
Then there is a move by private consortiums to store genome sequences or purchase them from other groups and sell them to third parties.
Those who obtain a patent in a disease gene can normally charge the public a premium price for testing, thus making it impossible for the individual with the disease or a health care provider to be able to afford it.
Some policy makers around the world are seeking revisions to the patent system to ensure this doesn’t happen.
The study of the legal, ethical and social issues remains an important part of the overall research agenda in most countries
involved with the Human Genome Project.
Since the onset of this project, the question has been asked time and again of whom that information belongs to.
Being able to identify an individual’s genome also raises questions of privacy, confidentiality and autonomy.
Do relatives, employers and insurers have any rights to such genetic information?
In addition, will these findings be used to fix a problem, or to change a person’s characteristics, or to manipulate personalities?
And will this be done in the name of profit? Etchegary suggests a key question for her in guiding her research is, “How can we best realize the potential health benefits of sequencing in a way that protects patients and their families? Strong ethical oversight and privacy frameworks are essential.”
To find more information about the SHARE event and the speakers, visit http://qualityofcarenl.ca/share-summit-2018/.