New Test Finds 580 Fatal Diseases Before Conception

New genetic test could identify most horrific and fatal disease in children.

ByABC News
January 17, 2011, 12:44 PM

Jan. 18, 2011— -- Craig Benson thought his 5-year-old daughter just needed eye glasses when she complained about not being able to see the television set in 2008. But after consulting specialists, the family learned their beautiful daughter had a fatal neurodegenerative disorder -- Batton disease.

"In an instant, a word we had never heard of changed everything," said Benson, 48, and CEO of an Austin, Texas, biotech company. He and his wife Charlotte never knew they were carriers of the rare disease.

Christiane, now 8 and legally blind, faces a grim prognosis: seizures, memory loss and finally death by her late teens or early 20s. She is one of about 700 other Batton cases in the country.

Rare diseases account for 20 percent of all pediatric mortalities in the United States, according to the Beyond Batton Disease Foundation, the nonprofit Benson founded after his daughter's diagnosis.

But now, largely because of Benson's passion, a new DNA test has been developed to detect parents who are carriers of 580 of the most severe inherited childhood diseases -- not only Batton, but muscular dystrophy, immune deficiencies like the "Bubble Boy" syndrome and Pompe disease, described in the 2010 film, "Extraordinary Measures."

The test, which was announced in the journal Science in Translational Medicine, uses genetic sequencing to identify recessive mutations before a couple decides to become parents.

See all the recessive diseases here.

The average person carries at least two to three gene mutations that can cause disease. When both have the same mutation, the chance of having an affected child is 1 in 4; the risk of having a child who is a carrier is 2 in 4; and the odds of having a normal child is 1 in 4.

The carrier screening test is cheap -- less than $400 for hundreds of conditions -- and could be marketed in the near future, according to Dr. Stephen Kingsmore, now a physician-researcher at Children's Mercy Hospital in Kansas City, Mo., where clinical work will be done.

"The long-term impact could be phenomenal," said Kingsmore, who headed up the research at the National Center for Genome Resources in Santa Fe, N.M.

The test will be sold through Benson's foundation to eventually find cures -- a kind of "venture charity," he said.

Right now, preconception testing is recommended for just a few diseases -- like Tay-Sachs and cystic fibrosis -- and can cost as much as $2,000 each.

If the Bensons had access to this test, they might have decided to adopt, turn to in vitro fertilization and test the embryos before implantation or seek egg and sperm donors.

Their 6-year-old son Garland, who was conceived before Christiane was diagnosed, is healthy and not a carrier.

The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.

Shaan Joshi, 6 and shown here with his sister, Shefali, has Joubert syndrome and cannot walk or speak.