Genetic Disease Detection Is Skyrocketing, Could Reshape Medicine

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Genetic Disease Detection

Dramatic progress in the detection of horrendous genetic diseases in days-old human embryos is opening new frontiers in reproductive medicine, Charlotte doctors say, raising the possibility that fertility physicians may one day be sought almost as much for their genetic expertise as for enabling pregnancies.

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Rapid progress in avoiding catastrophic inherited diseases -- boosted by research in genetic development that won the Nobel Prize for a North Carolina scientist last month -- is unfolding from a procedure called pre-implantation genetic diagnosis (PGD). Used in conjunction with in vitro fertilization (IVF), PGD allows specialists to biopsy embryos in their first three, five, and six days of existence for indicators of inherited diseases and then select only healthy ones for implantation.

Since its development in 1989, the number of diseases that can be diagnosed through PGD has doubled every year, with 150 to 200 distinct single-gene disorders now detectible.

"In the future, more people will use IVF with PGD for disease prevention, not just infertility treatment," said Dr. Jack L. Crain of Reproductive Endocrinology Associates of Charlotte (REACH), a group that has achieved regional acclaim for expertise in PGD.

Denise and Chris Kennedy of Austin, North Carolina, were concerned about the risk of having a child with Duchenne muscular dystrophy, a debilitating and usually fatal genetic disease that runs in their family. They underwent PGD and Denise gave birth to healthy twins in May.

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