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Duke Bioethicist Reflects on Personal Genomics

By Eddy Ball
March 2009

Robert Cook-Deegan, M.D.
"This is an incredibly powerful technology that's entering our culture, and we don't know what it's going to do," Cook-Deegan said, "any more than in 1994 we knew what the World Wide Web was going to do." (Photo courtesy of Steve McCaw)

David Resnik, J.D., Ph.D.
Answering a question from NIEHS Bioethicist David Resnik, J.D., Ph.D., center, about distinguishing between the recreational and medical uses of personal genomic information, Cook-Deegan conceded that there is no "bright line," but added, "There are no bright lines anywhere in medicine." (Photo courtesy of Steve McCaw)

In 1989 and 1990 when Robert Cook-Deegan, M.D., was a consultant to the director of what was then the NIH National Center for Human Genome Research, James Watson, few people could have predicted how the evolution and democratization of genomics would impact society. Nearly 20 years later, during a lunchtime lecture at Duke Hospital in Durham in January, Cook-Deegan shared some of his thoughts about the new field of consumer genomics in a talk titled "Personal Genomics: Do We Need Doctors Anymore?"

Today, Cook-Deegan ( Exit NIEHS is the director of the Center for Genome Ethics, Law & Policy (GELP) in the Institute for Genome Sciences & Policy at Duke University, where the ethical and legal implications of the genomic revolution occupy much of his time. GELP houses the Center for Public Genomics, which is a Center of Excellence co-funded by the U.S. Department of Energy and the National Human Genome Research Institute.

"I'm going to talk about the complex interactions between the public sector and the private sector," Cook-Deegan said as he began his talk. "I'm also going to be talking about a phenomenon that began about a year and a half ago - so-called ‘personal genomics' - and some of the issues that arise in business models that incorporate genomic technologies into the transport of information to consumers."

As Cook-Deegan pointed out, genomics has advanced at an unprecedented pace in a very short period of time. The field was founded when the Supreme Court upheld the patent on a living organism in Diamond v. Chakrabarty (1980). The term "genomics" was coined in the late 1980s to describe the practice of conducting molecular analysis of DNA and RNA on a larger scale than human genetics previously had.

The cost of genomic profiling, Cook-Deegan said, has dropped precipitously from the approximate $100 million it cost to do Craig Venter's genome in 2007, and a company called Complete Genomics projects that genome mapping will be available for as little as $5000 by the end of 2009. The dramatic reduction in cost and an equally dramatic increase in the power of available technologies are opening up commercial opportunities in consumer genomics.

"At the beginning of this era, the 1980s, what everybody was doing was trying to find genes that we knew were broken because we knew there was an inherited pattern," Cook-Deegan explained. "What has happened in the meantime is that we've gone upscale. We can sample a million different genotype changes in a single experiment. Now what we are talking about are people's whole genomes being available for analysis."

The growth of consumer genomics for "recreational" purposes such as ancestry studies and social networking, Cook-Deegan argued, has outstripped the ability of ethics and law to deal with its social ramifications. "We have an oversight and regulatory mechanism that is primarily framed around how we think about testing for Mendelian conditions in high-risk families," he said, "but that's not really what this is."

Cook-Deegan proposed that society might be better served by treating consumer genomics as a loosely regulated "open source," similar to Google and Wikipedia, to let users in the marketplace experience its network benefits while fine-tuning weaknesses. "We [often] put up policies to keep bad things from happening [with a new technology], but we completely forget that we may be blocking all the future benefits."

As inadequate as the current decentralized legal model is for dealing with consumer genomics, the answers are not simple. "I don't know where we're going to land," he admitted. "I don't even know where I'm going to land in thinking about regulation."

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