A new way of thinking about genomic data

A portrait of Bartha Knoppers leaning against a bright orange wall, smiling at the camera.

A new way of thinking about genomic data

A leading international expert on the ethical and legal aspects of human genetics, genomics and biotechnology, McGill University’s Bartha Maria Knoppers helped develop a global framework for sharing human genomic and health-related data
December 14, 2015

Twenty-five years ago, the Human Genome Project (HGP) was launched. In 2003, this international research effort to sequence and map all human genes — together known as the human genome — was completed. For the first time, a comprehensive genetic map for human beings was built.

With this incredible achievement came the necessity to ensure its findings were and continue to be shared responsibly. That’s where Bartha Maria Knoppers comes in. As the Chair of the International Ethics Committee of the Human Genome Organization (HUGO) from 1994 to 2004, she was at the forefront of developing ethics frameworks for research and information-sharing.

“I was involved in the decision to collaboratively sequence the human genome,” recalls Knoppers. “Prior to that, no one talked. Everyone was in the role of sole scientist or in a commercial space. But we realized, at that level of pre-competitive research, we could share. We all needed this map.”

 This realization was the beginning of a major shift in thinking about how accessible basic scientific information should be. Typically, such research is carried out under strict intellectual property protocols. But, in the case of HGP, the data was widely disseminated to scientists around the world to ensure the most rapid application of research results for the benefit of humanity.

A new framework for sharing genomics and health data

Much of Knoppers’ work as the current Director of the Centre of Genomics and Policy at McGill University and as the Canada Research Chair in Law and Medicine continues the mission to share vital health information in a secure environment to further our collective understanding of human health.

As a leading international expert on the ethical and legal aspects of human genetics, genomics and biotechnology, Knoppers has worked with many organizations including the International Bioethics Committee of the United Nations, Educational, Scientific and Cultural Organization (UNESCO), the World Health Organization, the International Cancer Genome Consortium, Genome Canada and Genome Quebec. She is also founder of the Public Population Project in Genomics and Society (P3G), an international consortium that facilitates collaboration and data-sharing between researchers from around the world.

Add to that, Knoppers holds numerous honorary degrees and is both an Officer of the Order of Canada and of the Ordre national du Québec.

With such an impressive background, she was ideally suited to develop the 2014 framework for the responsible sharing of human genomic and health-related data of the nascent Global Alliance for Genomics and Health.

“What's unique about this framework is we’re complementing the usual principles of bioethics that have guided scientists, but we’ve flipped everything around and founded it upon human rights,” Knoppers says. Genomic information could lead to personalized medicine, where people can receive medical care based on their own genes. “We're not there yet, but we’re moving from aggregate data to populations, to sub-populations and then to individuals so we need to have a framework and policies for secure, accountable and ethical use of data.”

Specifically, the framework is informed by Article 27 of the 1948 Universal Declaration of Human Rights that guarantees the rights of every individual in the world “to share in scientific advancement and its benefits” and simultaneously “to the protection of the moral and material interests resulting from any scientific ... production of which [a person] is the author.”

The idea is to foster responsible data-sharing and complement both bioethics and laws on privacy and personal data protection, all while recognizing intellectual property. “It’s a radical shift,” Knoppers affirms. “Now we ask [researchers], why aren’t you sharing data in a secure way? Why aren’t you asking patients if they want to share their information?”

A complex problem that affects everyone

What excites Knoppers is this creation of a new approach to information sharing. “I’m really interested in fields that have no immediate obvious answers,” she explains.

And she’s quick to point out that legislation is not always the answer. “Some people say we need laws, but there are human rights and codes of conduct already in place that we can use. It’s very worrisome to have technology-specific legislation because terms can be hard to define and are always changing. There’s a real danger that legislation can be scientifically overrun.”

The key, she emphasizes, is deciding on international principles and procedures. Since technology keeps changing and research breakthroughs keep happening, it’s impractical to develop specific laws to address every potential finding. Instead, the foundation for information sharing needs to be built on overarching human rights norms that can encompass new discoveries. “We need to get ahead of the game and frame the future with enough latitude, while assuring we have oversight and governance. We need to look at current approaches and how to customize them for future science.”

How health data will be stored and shared moving forward will affect researchers, clinicians, data stewards, funders, publishers and of course, research participants and patients. “I have a hard time thinking who wouldn’t be affected by this,” she attests.

Knoppers’ own mindset switch from automatic protection of personal data at all costs to sharing occurred while working with groups for rare diseases. For these families, limiting access to information based on vague bioethical principles or on privacy laws that are based on “what if” hypotheticals meant it would be even harder to know if there were others with the same condition around the world. “These folks were about advocacy and wanted sharing that could contribute to understanding and not just worrying about potential fallout if someone could misuse the data one day.”

Born in the Netherlands, Knoppers moved to Canada with her family when she was four, and settled in Edmonton. With such an impressive legal career, one might assume she knew early on she would become a lawyer, but she actually took a while to get there. “I was into surrealist poetry,” she laughs. She completed a Bachelor of Arts (French and English Literature) from McMaster University, and a Master of Arts degree in comparative literature from the University of Alberta before pursuing her legal studies. “You should really spend your time learning in other fields before you become too professionalized and narrow.”

Regardless of what she was studying, she grew up learning never to accept a limited ideology, a philosophy that continues to guide her work today. “My father was a minister of the Calvinist tradition, but my parents were revolutionary. They had a respect for all religions and diversity. They taught me to respect humanity as a whole and each person as an individual.”

Bartha Maria Knoppers will be presenting the keynote address entitled “Defining the human right to benefit from scientific progress: Big data and the responsible sharing of genomic and health-related data” at the Annual Public Meeting of the Canada Foundation for Innovation on December 15, 2015. Colleen Seto is a longtime freelance writer and editor, creating prose for the likes of WestJet Magazine, Today’s Parent, Canadian Living and National Geographic.