New England Journal of Medicine review co-authored by VCU expert

Advances in genomics and reproductive technology have made the detection of genetic disorders during pregnancy possible, but interpreting the genetic information and its use in decision-making can be complex, and may require expert consultation, according to a new review co-authored by a Virginia Commonwealth University researcher published in the Jan. 5 issue of the New England Journal of Medicine.

There is still work to do to develop and implement appropriate guidelines, and clinicians should continue to play a central role in educating patients of technological advances, according to Jerome F. Strauss III, M.D., Ph.D., executive vice president for medical affairs for the Virginia Commonwealth University Health System and dean of the VCU School of Medicine, and Joann Bodurtha, M.D., M.P.H., a former VCU School of Medicine faculty member with the Department of Human and Molecular Genetics, now affiliated with the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins Medical Institutions.

Strauss, a professor of obstetrics and gynecology at VCU, noted that professional organizations in obstetrics and gynecology and genetics already encourage health care providers to discuss genetic issues with women and their partners before establishing a pregnancy. Unfortunately, access to genetic counseling varies widely across the country, he said.

Strauss and Bodurtha based their observations on a review of several genetic technologies that are used in preimplantation genetic screening and diagnosis, prenatal genetic and genomic testing, noninvasive prenatal diagnosis, newborn genetic screening and diagnosis.

“Rapid advances have made it possible to detect a large number of abnormalities in the structure of chromosomes and genes that lead to disease and disability, including disorders that arise later in life. This represents a major dividend from the sequencing of the human genome, and the technology developed to identify genetic variation,” said Strauss.

“However, the interpretation of the genetic information and its use in decision-making can be very complicated, and may require expert consultation. For example, there is not always a direct relationship between the genetic alterations and the severity of the condition that may develop, and in some cases the genetic abnormality may only confer risk of disease. When a genetic disease could be transmitted, special IVF methods are available to insure that pregnancies are established with disease-free embryos,” he said.

The article describes these techniques.

EDITOR’S NOTE: A copy of the review is available to reporters in PDF format by email request from mediasupport@nejm.org or by calling 781-434-7847.