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Overview

Genomic medicine is the study of our genetic material (DNA) and its interaction with our health, diagnosis, and treatment of disease.  Most people who exhibit diseases such as high blood pressure, kidney disease, or cancer have many subtle differences in their DNA that along with environmental factors can lead to developing the disease over their lifespan. These are typically called multifactorial conditions and in these cases, the application of genomic medicine can be challenging. In contrast, for people with a disease resulting from a single cause, the application of genomics medicine can be very successful as many times a simple error in the DNA code is responsible for their disease. We typically call these monogenic diseases, which can include many different clinical features. It is estimated that these types of diseases impact more than 300 million people worldwide, represent a major economic cost, and significantly affect quality of life.  

For some critically ill infants, the quicker a genetic diagnosis can be made and intervene, the greater the likelihood to reduce suffering and lower mortality. The application of whole genome sequencing (WGS) is one way to identify a genetic cause of monogenic diseases by cataloging the entire genetic code of each patient. For example, in the neonatal intensive care unit, the proportion of infants who receive a result of having a genetic disorder out of all who have undergone testing has been reported between 21% and 58%, with changes to medical management in 28–32% of infants with diagnoses as well as a reduction in healthcare costs. 

Project Baby Magnolia is comprised of two parts: a clinical research component and an education component:  

1. Work with primary care and genetic health professionals to identify infants/children that could benefit from WGS, consent and collect patient samples, perform sequencing analysis, and provide a detailed report to the clinical care team of possible genetic changes that could explain the disease. 

2. To address a critical shortage of genetics professionals, especially in the South, Project Baby Magnolia will include an education and training component to provide an opportunity to educate students, fellows, and/or other health care professionals of the importance of genomic medicine with a goal to increase interest in working in this field.