Sat, Aug 04, 2012 - Page 9 News List

Human genome researchers need to put results into practice

By Gholson Lyon

Since the human genome was first sequenced in 2000, genome science has accelerated at a remarkable rate. Rapid advances in DNA-sequencing technology mean that affordable decoding of the human genome is not far away. In fact, human genomes could be sequenced for as little as US$1,000 in the next few years. Unfortunately, the current biomedical research establishment is entirely unprepared for such a scenario.

Researchers often believe that their mission is to uncover new biology and genetics, and that someone else will translate them to the clinical arena. Accordingly, many geneticists have worked on “big-science” genomics, including genome-wide association studies focused on common genetic variations in the human species.

However, it is widely known that certain mutations can run in families, increasing dramatically the risks of certain diseases — for example, breast cancer, sickle-cell anemia and cystic fibrosis. Unfortunately, many human molecular geneticists have abdicated any responsibility for trying to decrease the overall burden of such diseases.

While this trend has many causes — most of which have been debated extensively — one very important factor is rarely discussed. Scientific research — and biomedical research in particular — largely resembles a race. Human geneticists, like big-game hunters, specialize in finding disease genes — the “prize.” Once they succeed, they usually do not continue to develop their findings; instead, they move on to their next target.

Today, scientists are rewarded for how many papers they publish and in which journals. In the US, several major genome-sequencing centers exist primarily to conduct research — including the Centers for Mendelian Genomics, which seek to find the genetic basis of “simple” Mendelian disorders (diseases caused by a single mutation in the structure of DNA). Many other countries are undertaking similar programs.

However, the discoveries and published papers rarely benefit the people who enable this research by donating their blood and other tissue samples. As Michael Nielsen discusses in his recent book Reinventing Discovery, the “publish or perish” mentality that dominates the field means that many substandard or incomplete papers are published, while those people who are supposed to benefit from the research are often little more than an afterthought.

Indeed, research volunteers rarely receive their genomic data, which betrays the trust that participants place in researchers to use their findings not only to increase the stock of scientific knowledge, but also to deliver actionable results.

The personal genomics and biotechnology company 23andMe has created a useful interface for returning results, which could easily be built upon to deliver complete genome data to participants — as long as the sample collection and sequencing are performed to a sufficiently high clinical standard.

The company’s model laudably calls for research participants to help in the analysis of their own genomes, thereby relieving researchers of the burden of returning all results at once.

With expanding knowledge, analyzing genomes becomes easier. The hope is that, as technology develops, more researchers will recognize the importance of returning results — especially those that could have a significant medical impact — to participants.

This story has been viewed 1890 times.
TOP top