Whole Genome Sequencing and Patient Outcomes in Infants with Single Gene Disorders
Open Access
- Author:
- Singer, Alexa
- Area of Honors:
- Nursing
- Degree:
- Bachelor of Science
- Document Type:
- Thesis
- Thesis Supervisors:
- Britney M Wardecker, Thesis Supervisor
Lisa Ann Kitko, Thesis Honors Advisor - Keywords:
- Whole Genome Sequencing
Single Gene Disorders
Infants
Patient Outcomes - Abstract:
- Rapid genome sequencing has emerged as a tool that is capable of identifying Mendelian disorders in newborns, however, it is not a current component of standard newborn screening. Current newborn screening uses a blood test to detect common biochemical and molecular disorders. Many diseases are difficult to identify in newborns because the typical presentation of the disease may not be evident at this early stage of life or may be difficult to observe in small children. The lack of a rapid diagnostic method can allow disease symptoms to greatly progress in children before a diagnosis is made. PURPOSE: The goal of this systematic review is to synthesize existing studies to determine current standards of practice for genetic testing in infants. This study aims to answer the following questions: How does rapid genome sequencing in pre/postnatal infants affect infants’ outcomes? What recommendations can be made for the practice of whole genome sequencing as a component of standard newborn screening? METHOD: To examine existing literature on the role of rapid genome sequencing on single-gene disease diagnoses in pre/postnatal infants, a systematized literature search was conducted using PubMed, Web of Science, and CINAHL. Eleven articles were selected and together, they focus on the use of rapid genome sequencing on newborns throughout infancy. RESULTS: The majority of the 11 articles used rapid genome sequencing to quickly diagnose newborns with genetic disorders that allowed for redirection of care and proper medical management. IMPLICATIONS: A quick diagnosis of a Mendelian disorder through the use of whole genome sequencing as part of newborn screening has the potential to change the medical management of infants and improve their outcomes. A diagnosis within the first few days of life will allow healthcare teams to appropriately plan care for infants and decrease their mortality. Early diagnoses will help families move forward with genetic counseling and symptom management preparation regardless of the severity of the disorder.