What Parents Should Know about Genetic Testing for Rare Disease in Intensive Care Settings
INTRODUCTION
Genetic testing can offer hope for many families that are navigating the complex reality of rare diseases. 80% of rare diseases have a genetic origin1, and genetic testing can offer unparalleled insights into a child’s genetic makeup. This testing creates a better way to inform parents and healthcare providers on personalized treatment plans that may improve health outcomes. This is especially true in neonatal and pediatric intensive care settings, where information from genetic testing can be potentially lifesaving.
UNDERSTANDING GENETIC TESTING IN NEONATAL AND PEDIATRIC SETTINGS
Genetic testing examines a patient’s DNA to identify changes (also called mutations or variants) that may cause or increase the risk of genetic disorders. Among the testing options available, Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) stand out because they are the most comprehensive genetic tests, which can make a diagnosis while avoiding multiple rounds of testing.
There are other tests available that a clinician may choose if WGS and WES are not required:
- Chromosomal Microarray Analysis (CMA) provides comprehensive genetic testing for the most common chromosomal conditions as well as many severe genetic conditions not detected by traditional chromosome analysis.
- Mitochondrial testing for conditions associated with mitochondrial disorders. Mitochondrial disorders often impact multiple organs and can be present at any age.
- Gene panels allow for the simultaneous analysis of multiple genes associated with a particular condition, increasing the likelihood of identifying relevant genetic variants. This approach can lead to faster, more accurate diagnoses, and can be more effective than testing single genes individually.
WGS and WES explained: WGS analyzes the entire genome, providing comprehensive data that allows for the identification of a wide range of genetic variations. A genome is like an instruction manual for building and running the human body. It contains all genetic information that guides cells how to grow, develop, and function.
WES focuses on the exomes (or coding regions), which make up about 1-2% of the genome; and most known genetic disorders are found in the exome2. Exomes are a special section of the genome that include all the important instructions for making proteins in the body and are crucial for most of the body’s functions.
Both WGS and WES tests enhance the detection and understanding of genetic causes of rare diseases.
WHEN AND WHY GENETIC TESTING CAN BE RECOMMENDED
Unexplained Symptoms and Suspected Conditions: Genetic testing in intensive care units (ICU) can be beneficial for children with unexplained symptoms, complex health conditions, or when a genetic disorder is suspected3. These can range from unexplained seizures to heart issues to metabolic diseases, and other symptoms pointing towards a genetic basis for a child’s condition.
Diagnosing Rare and Complex Genetic Disorders: Genetic testing plays a pivotal role in identifying rare and intricate diseases. By decoding the child’s genetic changes, healthcare providers can pinpoint specific disorders, some of which might be rare or previously undiagnosed, facilitating accurate and timely interventions.
Baylor Genetics’ Ability to Diagnose Rare Disease for More Than 45 Years
Baylor Genetics is a leader in performing WES and WGS for clinicians and patients across the nation. WES and WGS often provide answers where traditional genetic testing methods fall short, such as gene panels or single gene testing. This expanded capability is a beacon of hope for families seeking answers and effective treatments for their children’s unique conditions.
RARE DISEASE AND DUAL DIAGNOSES
WES and WGS at Baylor Genetics can also help uncover dual diagnoses in some patients, where more than one genetic disorder is detected and diagnosed. Having this information provides critical insights into complex medical cases, especially where the symptoms don’t completely match the expected disease, and something additional might be an underlying diagnosis. By employing comprehensive testing like WGS and WES, Baylor Genetics has been able to identify multiple genetic mutations in individual patients. The ability to pinpoint dual diagnoses has significant implications for patient care, enabling tailored treatment plans and better management of the coexisting conditions, leading to improved patient outcomes and a deeper understanding of genetic disorders.
For those looking to explore genetic testing, Baylor Genetics offers a comprehensive menu of genetic testing options. Whether you are a parent or a healthcare provider, engaging with Baylor Genetics can open new avenues for diagnosis and treatment. Click here to explore FAQs for providers and patients or take a look at this blog that can help demystify several insurance terms.
CONCLUSION
The landscape of healthcare is evolving, with genetic testing at its heart, it will help deliver more precise answers to patients. As this field continues to advance, it is important for parents to engage in informed discussions with their healthcare providers about the potential benefits and limitations of genetic testing, along with implications of test results and cost/insurance coverage. Together, we can navigate the complexities of genetic health, armed with the knowledge and tools to provide the best care for children.
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