WGS - From Patient to Results

There are 6 general steps in Project Baby Magnolia, including:

The primary doctor will identify an infant/child that they believe will benefit from WGS. This information will be relayed and discussed with the clinical care team/research staff for a final decision.
The parent/s (or legal guardian) will be approached to discuss the research process. If there is an interest by the parent/s for their child and themselves to participate, then they will undergo a consent process that will provide information on the study, potential risks, and possible benefits of the study.
A small blood sample will be collected from the infant/child (~1 ml) as well as a parent/s willing to also provide a blood sample (1-3ml). The DNA from the parental blood sample will be compared to the child’s DNA and allow for a better chance to identify the potential genetic contribution.
The blood samples will be transported to the UMMC Molecular and Genomics Core Facility for DNA isolation, processing of DNA, and whole genome sequencing and structural variation analysis using optical genome mapping.
After sequencing, whole genome data will be passed to the data informatics group to perform the analysis to identify potential DNA changes that could be linked to the disease.
A report will be generated and provided to the clinical team identifying potential genetic changes/ variants that are linked to the disease. Additional testing to confirm the genetic changes may be performed before the information is provided back to the parents.