Collaboration Produces Breakthrough Diagnostics

As a child, Dr. Wayne Grody was fascinated by a Life magazine cover featuring an image of DNA’s double helix structure.  That fascination led him to a career as a pioneer in the field of genetics and diagnostic molecular pathology. His close collaboration with medical technology companies enabled Dr. Grody to create and improve the cystic fibrosis genetic mutation test – to the benefit of expectant parents all over America.

In 1992, Dr. Grody, then a professor of medical genetics and molecular pathology at University of California Los Angeles (UCLA) School of Medicine, was approached by the Human Genome Project (HGP), which was seeking to apply the growing knowledge of genetics to improve understanding of complex diseases.  HGP asked Dr. Grody to help determine the likelihood, based on the parents’ genetic profile, of a child being born with cystic fibrosis, a life-threatening disease affecting roughly 30,000 Americans that usually leads to death by age 30.  The gene for cystic fibrosis had been discovered in 1989 and, according to Dr. Grody, was “extremely large and complex.” With his team at UCLA, Dr. Grody spent five years studying genetic mutations indicating that a parent has the cystic fibrosis gene.  The team focused on the six most common mutations – out of more than 1300 – to come up with a DNA-based test, ultimately producing an oral swipe test. 

They studied the test among pregnant women, screening them for the cystic fibrosis gene and, if positive, also screening the father.  To evaluate the oral swipes, Dr. Grody worked with a diagnostic test manufacturer to create and refine a test strip with DNA probes that scanned for each of the six genetic mutations.  In 1997, the team presented its work to a panel at the National Institutes of Health (NIH), which subsequently recommended that the cystic fibrosis test should be offered to all pregnant women.

Since then, Dr. Grody has continued to work with the diagnostic company to improve the test by scanning for 23 different cystic fibrosis genetic mutations.  The test is now performed with a blood sample, which has improved its sensitivity and accuracy.  Dr. Grody, who is currently a Professor in the Department of Pathology and Laboratory Medicine, Pediatrics and Human Genetics at UCLA, continues to refine the cystic fibrosis test.  He also works with the Centers for Disease Control and Prevention to create “control” cells carrying mutations for a variety of diseases for use as quality control materials in genetic molecular testing.