CHICAGO These days, its faster and cheaper than ever to decipher a persons entire DNA. But a small study suggests that looking for disease risks that way may not be ready for the masses.

For one thing, the research found that gene variants most likely linked with significant disease were the least likely to be accurately identified.

And analyzing the mass of data from the DNA scan is a daunting task, researchers said.

Some experts think more targeted gene-mapping is a better approach. But while whole genome sequencing is mostly done for research, it has far-reaching potential for diagnosing and treating genetic diseases, even in people with no known risks. The new results show its promise and its challenges.

Stanford University researchers performed whole genome sequencing in 12 healthy people. Most of the millions of genetic variants they found were of uncertain significance, although one woman was found to have a high genetic risk for cancer.

DNA is recovered by a simple blood test and deciphered by machines. The difficulty lies in interpreting the findings and figuring out which variants are important and which ones can be ignored. That takes days of sophisticated follow-up lab tests and interpretation to reveal potentially meaningful genetic information, the researchers said.

Dr. Euan Ashley, a senior co-author and Stanford associate professor of medicine and genetics, likened the technology to an unruly teenager who has grown up very fast. Theres huge potential.

This paper is like parental tough love we have to be really honest about where we are in order to bring it up to clinical standards, he said.

For the test, they used two commercially available instruments to sequence the DNA the second one to validate the initial findings. But less than one-third of variants in inherited disease genes were confirmed.

Several specialists including medical geneticists, genetic counselors and a pathologist examined the findings and recommended follow-up tests. Medical intervention was considered appropriate for one participant, a woman with no family history of breast or ovarian cancer found to have a genetic variant strongly linked with those diseases. That finding led to surgery to remove her ovaries and increased breast cancer screening.

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Gene mapping study shows promise, challenges - The ...

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