Often referred to as the genomics capital of the world, San Diego is now leading the country and the globe in developing the fastest genetic diagnosis for neonatal intensive care unit (NICU) babies, infants born ill or premature. Statistics show that one third of newborns admitted to NICUs in the United States have a genetic disease.
A human genetic disease is any disorder that is caused by mutations in one or more genes. A gene is a part of our DNA that is passed down from parent to child. An abnormality in the gene means that the information coded in the gene is somehow not working correctly and is different from the gene sequences of other humans. These genetic anomalies can adversely affect or completely prevent the normal function of vital body systems, such as the immune system or the endocrine system. Such mutations can prevent the normal development of organs, bones, or skin as the fetus is growing. They can also significantly increase a person's risk of developing more serious diseases later in life such as diabetes or breast cancer. The Genetic Disease Foundation now estimates that there are over 6,000 genetic diseases and disorders that can be passed from parent to child. Many of these diseases are fatal or severely debilitating and the earlier the diagnosis, the more likely that the infant can be helped by physicians. The most common genetic disorders in the United States include cystic fibrosis, Huntington’s disease, Down’s syndrome, muscular dystrophy, and sickle cell anemia.
Whole genome sequencing is a laboratory process that determines the complete DNA sequence of an organism’s genome. Genome sequencing contains information about genetic relationships of individuals, origins, or their susceptibility to specific diseases. Almost any biological sample containing a full copy of the DNA, such as saliva or a cheek swab, can provide the genetic material needed for a full genome sequencing.
Currently, researchers and physicians have developed treatments for about 500 genetic diseases. For approximately 70 of these 500 diseases, starting the treatment in newborns can help prevent disabilities or other life threatening consequences of the disorder. With faster genome sequencing, babies can receive critical care quicker. “Diagnosing acutely ill babies is a race against the clock,” said Dr. Stephen Kingsmore, the president and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital in San Diego, California. The rapid results of genomic sequencing are vitally important for infants whose symptoms are relatively vague (often just a fever, weight loss, or cough), and don’t yet have the ability to communicate how they feel. Whole genome sequencing can speak for that infant.
World renowned scientists, as well as public and private companies, have been working hard for the last 20 plus years to develop procedures to increase the speed by which genome sequencing is done. Now, the efficiency with which scientist can sequence the genome is astounding. On April 25, 2016, National DNA Day, Dr. Kingsmore who is now associated with Rady Children’s Hospital became the official title holder of the Guinness World Records designation for the fastest genetic diagnosis. He successfully diagnosed critically ill newborns in just 26 hours. Dr. Kingsmore used several time-shrinking technologies including a genomic data-crunching computer chip created by La Jolla-based company Edico Genome, as well as high quantity and data sequencing instruments developed by another California headquartered company, Illumina.
In the past, parents of ill babies could face weeks, months or even years of uncertainty attempting to obtain a diagnosis of their child’s condition. Experts estimate that many more genetic diseases could exist than we currently know of and, as a result, for many families an answer is never found. But now, by taking a DNA sample from the NICU baby, the mother, and the father, physicians are able to conduct tests and determine in just about one day the disease affecting the infant or, at a minimum, rule out diseases that are not the cause of the problem. Simply acquiring a diagnosis can help parents know what to expect and it can help them find support and other resources to offer a better quality of life for the affected child. The diagnosis is a preventative measure and can serve as the impetus to have other family members tested for the same disease.
This advance in technology will not only save countless lives in the years ahead but will also help scientists better understand genetic diseases and find treatments for them. In addition, it is inspiring to see these initiatives being pioneered by San Diego companies. Change is happening right in our own backyards.