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Stanford Report, April 16, 2003

Beyond the beginning: plotting future genome research


Fifty years ago, James Watson and Francis Crick published the structure of DNA. Since then, scientists have gone from barely understanding life’s blueprint to knowing each molecular letter that makes up human DNA. The challenge facing DNA researchers now is how to make best use of that knowledge.

This question has been the subject of conferences and symposia over the past two years, culminating in a report being published in the April 24 issue of the journal Nature that lays out future goals for genomics research.

The report, which includes input of researchers from the medical center, was sponsored by the National Human Genome Research Institute, or NHGRI, and endorsed by the National Advisory Council for Human Genome Research.

Following are some thoughts on the implications of the report by contributing Stanford researchers.

Huge effort

"Finishing the human genome took a huge amount of effort," said Richard Myers, PhD, professor of genetics at the School of Medicine and director of the Stanford Human Genome Center, which participated in sequencing chromosomes 5, 16 and 19. "It’s a great landmark, but now it’s time to sequence other organisms." Sequencing other organisms to learn about human evolution is one goal laid out in the report.

Myers said that technology advances will continue to be important for future genomics research. "Sequencing a single gene used to be an entire PhD project," Myers said.

New technology developed during the human genome sequencing project has turned that hurdle into a relatively quick process.

The report recommends continuing to find faster ways of sequencing genomes as well as developing new tools for monitoring when proteins are being used. "The genome is mostly sequenced so now people are going to start focusing on the proteins," Myers said.

Ethical implications

Barbara Koenig, PhD, an associate professor of medicine at Stanford who studies biomedical ethics, said the NHGRI is the only branch of the National Institutes of Health to make ethical, legal and social implications an integral part of its research agenda."They’ve really taken the lead by doing that," she said.

The past 10 years of genetic research has uncovered genes involved in such disorders as cancer, Alzheimer’s disease and heart disease. As a result of these discoveries, people now have access to genetic tests that can reveal their risk of serious disease. Koenig noted that although this information can be used to help people lower their own disease risk, it also has the potential for abuse by insurance companies or employers. It also gives a glimpse into the future that some people may not want. "Do we really want to know the future?" she asked.

"The good thing about having ethical, legal and social implications be a mandatory part of NHGRI research is that people have collected data that can influence policy," Koenig said.

As an example, she said data on these implications could lead to policies about the best way to both carry out genetic testing and convey those sometimes troubling or confusing results. Koenig added that technologies proposed in the report raise new issues for researchers studying ethical issues associated with genetics. "What will happen if you can sequence a person’s entire genome for less than $1,000?" she said. "What would be the ethical implication of reaching that goal?"

Genomics, race and ethnicity

One major challenge posed by the report is to understand the relationship among genomics, race and ethnicity. Neil Risch, PhD, professor of genetics, said that addressing this issue may be more a matter of having people involved in that area of research talk out their different opinions than of carrying out new research.

Risch has long argued that race has an important role in biomedical research and should not be replaced with genetic tests to categorize populations of people. "I think there are circumstances where genetic markers will also be important," Risch said.

However, in his research he has found that racial differences are very much aligned with genetic markers, and studies based on race take significantly less time and money to produce. Risch admits that some researchers would like to see the word "race" eliminated from scientific vocabulary but doesn’t see this step as necessary if the goal is to reduce or eliminate disparities.

"How can you pretend to address disparities if you can’t discuss them and study them?" he said. Risch suspects that the concept of race may become more palatable in the future if scientists themselves become more racially diverse.

In addition to his work on genetics and race, Risch advocated developing databases with people’s medical histories and genetic markers at a meeting leading up to the publication of the NHGRI report. These databases could be used to help identify genes involved in complex diseases such as heart disease or diabetes.

"It’s important to have an understanding of how these genes apply to the general population and how they interact with environment," he said. The report includes such databases as a necessary resource for future genomics research.

Other Stanford researchers who contributed to the report include Ronald Davis, PhD, professor of biochemistry and of genetics and a member of the NHGRI which approved the report; and Arend Sidow, PhD, assistant professor of genetics.

Stanford researchers make major contribution to human genome sequence (2/12/01)

First-of-its-kind neuroethics event covers new turf (5/22/02)

Inheritance a key risk factor for most cancers, study shows (7/11/01)

Stanford University Center for Biomedical Ethics

Stanford Human Genome Center