Getting real with genomic research

(Edmonton) Researchers have been working with the map of the human genome for the past 10 years. In that time, expectations around the promise of genetics research for improving health have continued to be quite high among scientists, policy makers, health-care professionals and even the public.

An article published Feb. 18 in the genomics section of the journal Science will more than likely raise a few eyebrows in the research world. The article, “Deflating the Genomic Bubble,” is the collaborative effort of a research team comprised of a geneticist, an ethicist, a social scientist and a health-law and policy expert and cautions against the dangers of inflated expectations.

The University of Alberta’s Timothy Caulfield, joint appointed with the School of Public Health and the Faculty of Law, who co-wrote the article with James P. Evans from the University of North Carolina; Eric M. Meslin, Indiana University; and Theresa M. Marteau, Kings College, says genomic research needs to unfold appropriately; otherwise it will damage the field. “While I think that is an emerging recognition in the science community about the challenges faced by genetics, you don't see many statements telling us all to calm down.”

Genetic research has often been thought of as the “sexy science,” Caulfield says, and that, with all the attention in the media and the rush for commercial applications, there is a need for re-evaluating funding priorities and determining what is the best bang is for a research dollar.

Caulfield says, “the inappropriate hype comes from a number of sources, including the increasing pressure on researchers to ‘translate’ and commercialize their work in order to justify funding, media representation and the desire to attract research funds.”

And while the researchers are concerned about genomic research living up to its billing, they are quick to point out that the work done to date is “breathtaking.” Caulfield says, “Genomic research has led to a universe of fascinating basic science discoveries. It has increased our understanding of human diseases and I think it will lead to more targeted and effective therapies. But we need to tone down the hype.”

Much of the risk information associated with genetic linkages to common afflictions, like heart disease, is weak, the group’s findings show. Caulfield suggests that people need to make behavioural changes rather than rely solely on genetic makeup or pre-disposition for their health risks. “Even in the face of powerful risk information, like the data we get from the weigh scale or blood pressure cuff, we continue with our unhealthy habits. The existing data tells us that genetic risk information will not perform better.”


The article also discusses a shortlist of recommendations for avoiding the inflation of the genomic bubble, including:

  • re-evaluating funding priorities to stress behavioural and social science research aimed at behaviour changes for improving health;
  • fostering a realistic understanding of the “incremental nature of science and the need for statistical rigour” within the scientific community, and that the media make more responsible claims for genomic research; and
  • maintaining a focus on developing high-quality evidence before integrating good ideas into medical practice. 

“We do recognize the health benefits of genetics research, but it’s going to take time to fully realize their value,” says Caulfield. “In the meantime, we need to be realistic about expectations and perhaps look toward more research into the behavioural sciences.”