The Scientist - Minding the genome gap

[iansmith]

HUGO conference opens with plea to refocus efforts on differences, not disease genotypes | By Stephen Pincock

BERLIN—Roughly a year after the human genome sequence was completed, scientists meeting at the opening of the Human Genome Meeting on Sunday (April 4) were reminded about the enormous gaps that remain in our understanding of our genetic makeup.

“We have the sequence of 100 species or so a click away on the Web… but how do we use that information? How can we address the complexity of disease background at the DNA level?” asked Leena Peltonen, from the University of Helsinki in Finland. “We shouldn't be unrealistically optimistic.”

“We are still not sure what is the best way to understand the function of the genome,” Human Genome Organisation (HUGO) President Yoshiyuki Sakaki told the opening session. Maynard Olson from the University of Washington, added, “The future of genomics is a really big topic.”

Olson said that future may be in peril unless the scientific establishment focuses on a fundamental aspect of human genetics that has been overlooked: how the most obvious differences among individuals—like hair color, height, weight, and handedness—are generated.

“It's truly striking… how little we know about these obvious questions that even a child would ask,” Olson said. “Why have geneticists ignored this question of why humans vary from one another in these ways?” he asked. It has been ignored partly because of the complexity of the issue, the difficulty of getting funds for nonmedical research, and “the long shadow of eugenics,” Olson said. “Our obsessive focus on disease genotypes is premature… My broader agenda is essential for longer-term benefits.”

“Its going to take all of our efforts… to develop the level of trust with society that would make it acceptable to study this subject that is essential to human genomics,” Olson said. Difficult as these ethical issues are, mainstream science needs to focus on them, rather than leave it to rogue elements, he said. “Are we prepared to bring to bear the value systems of the science establishment to bear on these questions or are we going to engage in a long guerrilla war with fringe elements?” he asked.

http://www.biomedcentral.com/news/20040405/03

 

[Monique]

..peltonen :) it's nice to see her name popping up again.

 

[ravenprp]

This article highlights the ongoing challenges and gaps in our understanding of the human genome, despite the completion of its sequencing a year prior. The opening session of the Human Genome Meeting focused on the need to shift our focus from disease genotypes to understanding the differences among individuals at the DNA level. This plea to refocus our efforts on differences, rather than solely on disease, is a crucial reminder for the scientific community to not overlook the fundamental aspects of human genetics.

The comments from Leena Peltonen and Yoshiyuki Sakaki emphasize the need for a realistic approach and caution against being overly optimistic about the current state of genomics. Maynard Olson's call to address the most obvious differences among individuals, such as hair color and height, sheds light on the lack of attention given to these basic aspects of human genetics. He also raises important ethical questions about the value systems of the scientific establishment and the need to address them in order to gain trust from society.

This article serves as a reminder that while we have made significant progress in understanding the human genome, there is still much to uncover. It is essential for the scientific community to not only focus on disease genotypes, but also to address the broader agenda of understanding the differences among individuals. By doing so, we can gain a deeper understanding of the complexities of human genetics and potentially pave the way for longer-term benefits.