Infertility Doctors: Genetic Disease Detection is Skyrocketing, Could Reshape Medicine

Number of diseases that can be diagnosed just after conception is doubling yearly.  North Carolina couple among the latest to benefit by undergoing speical probe.

CHARLOTTE, NORTH CAROLINA, October 18, 2007 – 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.

Rapid progress in avoiding catastrophic inherited diseases – boosted by research in genetic development that won the Nobel Prize for a North Carolina scientist this week – 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.

The biopsy then allows doctors to select the healthiest embryos to be implanted in the mother’s uterus for gestation and birth. First developed in 1989, PGD to date has helped thousands of couples that are genetic carriers of catastrophic diseases to have healthy children.

At present, the number of diseases that can be diagnosed through PGD is doubling 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 medical group that has achieved regional acclaim for expertise in PGD.

At the same time, just this week the Nobel Prize for medicine was awarded to two Americans (including University of North Carolina professor Oliver Smithies) and their British collaborator for their work in gene targeting. This technique sheds new light on how the embryo develops in the womb and provides a picture of the development of disease, gene-by-gene. More than 500 different mouse models of human disorders have been developed thus far. Scientists are hopeful the work will help accelerate the benefits of PGD.

Although PGD use is not yet tracked by government agencies that monitor other assisted reproductive technologies, specialists report the demand for single-gene PGD has more than doubled in each of the last four years, and continued scientific breakthroughs are encouraging, Crain noted.

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. When Denise was diagnosed as a carrier, she and Chris underwent PGD, including the development of a genetic probe specifically for them. The biopsied cells were analyzed to determine which embryos might inherit the Duchenne gene and which were healthy. On May 30, 2007, Denise gave birth to healthy twins, Chloe and Chris, Jr.

“Improved diagnostic accuracy is very impressive,” said Crain. “Unfortunately, too many people who are genetic carriers of disease still are not aware of the tests that are available to help them have healthy families.”

In the last twelve years, REACH has performed more than 4,000 IVF treatments; of those, 17 involved testing for molecular genetic diseases such as Duchenne, Tay-Sachs, cystic fibrosis, and sickle cell anemia. More information about PGD is available at www.reachdrs.com/infertility-news.html.)

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About Reproductive Endocrinology Associates of Charlotte (REACH)

REACH is led by a nationally recognized team of six physicians who offer comprehensive, state-of-the-art assistance for infertile couples and women with reproductive endocrine problems. REACH physicians, all long-time practitioners in Charlotte, are widely respected for their superior pregnancy success rates – one of the highest in the region -- and for the finest patient care. REACH is a member of the IntegraMed Fertility network of 29 contracted centers in 96 locations across the United States, including 166 physicians and Ph.D. scientists. One of every five IVF procedures in the U.S. is performed in an IntegraMed fertility practice. For additional information, visit www.reachdrs.com.