Science Features

Genome 'miracles' unfulfilled decade after decoding

By Gisela Ostwald Jun 24, 2010, 11:30 GMT

New York - It sounded like a miracle. The decoding of the human genome promised customized therapies, an abundance of new effective treatments and a look at personal cancer risk.

In announcing on June 26, 2000, that the first draft of the human genome had been achieved, then-president Bill Clinton said it would 'revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.'

Clinton unveiled the first blueprints of the genome a decade ago at a ceremony in the White House. Francis Collins, the scientist behind the project that sequenced nearly 3 billion pieces of DNA, promised that 'over the long term ... you will see a complete transformation in therapeutic medicine.'

But the revolution remains largely unfulfilled, despite billions of dollars spent on research of genetic mutations suspected in some diseases. Still the advances are more than paltry: a treatment for osteoporosis, an antibody for lupus and some entirely new cancer therapies have followed the breakthrough in summer 2000.

Meanwhile, the pharmaceutical industry has doubled its investment to 46 billion dollars last year, the New York Times reported. Still the number of approved new drugs remains constant, about 25 per year.

It's possible that the waves of information from the Human Genome Project have simply overwhelmed research, some say. 'Data, data everywhere (...) but not one drug,' one industry source told the Times.

Other companies point out that the development of new drugs has always taken 10 to 15 years.

'Genomics is a way to do science, not medicine,' said Harold Varmus, who will become the next director of the National Cancer Research Institute this summer.

A study of 101 suspicious gene variations that involved the participation of 19,000 women for 12 years also seems to drive home that point. The goal: a genetic test that could indicate heart problems. In the end, lead researcher Nina Paynter of Brigham and Women's Hospital in Boston concluded family history gave a clearer prognosis than genetic testing.

The National Institutes of Health undertook a study in 2002 of genetic variations in Europeans, east Asians and Africans. Looking at this data, known as the HapMap, researchers like Eric Lander of the Broad Institute in Cambridge, Massachusetts, found 850 locations on the genome that are tied to illnesses. Yet they alone cannot explain disease.

Genetics pioneer Craig Venter, whose shotgun sequencing led to the decoding of the genome, hopes to take the next step. Last month, he unveiled the first organism with a synthetic genome. He hopes to build microorganisms that produce clean energy, break down climate harming carbon dioxide and make atomic waste harmless.



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