Gene test finds disease risk in parents

WASHINGTON Wed Jan 12, 2011 6:09pm EST

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WASHINGTON (Reuters) - A new test for genetic mutations in parents might help prevent conception of babies with deadly inherited diseases, U.S. researchers reported on Wednesday.

The test -- the brainchild of a biotech CEO whose young daughter has a deadly and incurable genetic disease -- can detect more than 500 recessive genetic diseases before a child is even a twinkle in the parents' eyes.

And in developing the test, the researchers found that people may have an average of two to three recessive genetic mutations that, with bad luck, could give their children one of the diseases.

"The test was designed to check for carrier status -- whether a person's genome has a copy of one of 448 diseases that cause catastrophic childhood disease," said Stephen Kingsmore of the National Center for Genome Resources in Santa Fe, New Mexico.

"The diseases are recessively inherited, which means both parents have to be carriers. If this is the case, they have a one in four chance of having an affected child," added Kingsmore, whose findings are reported in the journal Science Translational Medicine.

Kingsmore said two companies that make gene sequencers -- Life Technologies Corp and Illumina -- donated testing for the study. He said the team will use Illumina's test to further develop the product.

Most U.S. newborns get tested at birth for a range of genetic diseases such as the metabolic disorder phenylketonuria, which can cause brain damage unless the child sticks to a strict diet for life.

And there are tests that adults can take for recessive diseases such as cystic fibrosis and Tay-Sachs disease. If both parents turn out to be carriers, they can use lab techniques to conceive and test embryos, choose adoption or other methods to avoid having an affected child.

"Tay Sachs -- that disease has almost been eradicated by this type of carrier test," Kingsmore said in a telephone interview.

But there are hundreds of other diseases that are not tested for and that most people have no idea whether they carry a gene mutation that could put their children at risk.

This happened to Craig and Charlotte Benson of Austin, Texas, whose daughter Christiane has Batten disease.

Batten disease is a nerve disorder that causes seizures, blindness and eventually incapacitates a child, and kills by the late teens or early 20s. There is no cure.

Craig Benson, CEO of Rules-Based Medicine Inc., founded a charity (www.beyondbatten.org) and asked Kingsmore's team to develop a test.

"It is working extremely well in a research setting," Kingsmore said. "It shows that their dream, their vision of having a test that had the potential to eradicate dangerous genetic childhood diseases, is probably feasible."

The test requires more development, and some profits from its sale would eventually be used to fund research, according to Benson's website.

"It's not something we are going to use to get rich," Kingsmore said.

The test has now been expanded to look for more than 500 mutations that cause immune deficiencies diseases, developmental delays, neurological diseases and others.

The test could easily be mass-produced, and costs about $378, Kingsmore's team reported.

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