Deflate bubble of genome hype, scientists urge

Don't pin too much hope on the short-term impact of genomic research, a group of scientists is urging everyone.

Don't pin too much hope on the short-term impact of genomic research, a group of scientists is urging everyone.

They plead with funders and governments to reassess their priorities to make sure the allure of genetic possibilities doesn't detract from less glamourous research that also could contribute to better health. 
There is increasing pressure on researchers to make 'their work sound sexy, commercializable and immediately relevant to health,' Timothy Caulfield says. ((iStock))

It's been 10 years since humans decoded the human genome to great fanfare and hype. But its meaning and promise can be easily misconstrued, Timothy Caulfield of the University of Alberta in Edmonton and his co-authors wrote in Thursday's online issue of the journal Science.

"The true promise of genomics is to help lay bare the mechanisms of human disease," the authors wrote in a policy article.

The full potential will only be realized over the course of decades, they argued.

"If we fail to evaluate the considerable promise of genomics through a realistic lens, exaggerated expectations will undermine its legitimacy, threaten its sustainability, and result in misallocation of resources. Fueling unrealistic expectations for predictive genetic testing and uncritical translation of discoveries may also distract our gaze from other promising approaches to preventing disease and improving health," the authors cautioned.

They add while uncovering the mechanisms of human disease is valuable in its own right, that alone may offer little clinically meaningful information.

For example, they say the life-time risk for an American to develop Crohn's disease is about one in 1,000 but knowing that risk shifts to one in 500 or one in 2,000 may not be helpful for patients or doctors.

Genomic medicine is often promoted based on the idea that the information will promote a healthy lifestyle, even though there is little evidence that just telling someone they are at genetically increased risk for heart disease or diabetes actually leads to lasting improvements in diet or exercise habits, the authors noted.

They suggest several changes "aimed at deflating the genomic bubble" and realizing its long-term promise:

  • Re-evaluate funding priorities to promote improve health by learning more from behavioural science to counter the premature deaths and disease from smoking, sedentary behaviour, excessive food and alcohol consumption.
  • Foster realistic understanding in both the medical community and the public of the incremental nature of science and the need for statistical rigour.
  • Promote recognition that not all promising areas pan out when closely scrutinized over a longer time frame - think of the initial flurry of interest in turning to hormone replacement therapy for heart disease.

"I think there are numerous factors that work together to create a "cycle of hype," Caulfield said.  "There is increasing pressure on researchers to make their work sound sexy, commercializable and immediately relevant to health.  Research institutions and funding agencies want to be seen as doing socially beneficial work."

Yet the future of genomics does have promise, the authors are quick to point out.

Genomic testing could empower decision making by couples who choose to seek such information when making reproductive decisions , and better diagnostics could spare anxiety and money for families seeking a definitive diagnosis when effective treatments exist, they said.