Role of Genetic Testing in Pediatric Healthcare
Genetic Testing: Transforming Pediatric Healthcare
Genetic testing is used to diagnose and manage a wide range of genetic disorders. It can guide personalized treatment plans and preventive healthcare measures. By identifying specific genetic variations early in a child’s life, healthcare providers can tailor interventions to mitigate symptoms, manage disease progression, and improve overall health outcomes.
Genetic testing can also provide valuable information for family planning and help in assessing the risk of hereditary conditions. Read below to find out more about genetic testing in pediatric healthcare.
Diagnosis of Genetic Disorders
Genetic testing can confirm the presence of suspected genetic disorders in children, such as cystic fibrosis, muscular dystrophy, or Down syndrome. By analyzing a child’s DNA, genetic tests can identify specific variations or chromosomal abnormalities that cause these conditions to provide a definitive diagnosis.
Confirmation enables healthcare providers to implement targeted treatments and interventions early, which can significantly improve the child’s quality of life. It also offers families clarity and understanding of their child’s condition, allowing them to make informed decisions about care, support, and future family planning.
Many genetic conditions are treatable. Early identification of these disorders can lead to early interventions, which may improve the quality of life and outcomes for affected children. Conditions such as phenylketonuria (PKU) can be managed with dietary changes which prevent the toxic buildup of phenylalanine, allowing for normal growth, development, and cognitive function in children with PKU. The identification of these disorders and subsequent treatment saves the lives of many children each year.
Genetic testing can help identify a child’s risk of a condition if there is a genetically-diagnosed family history and early intervention could mitigate future symptoms. It can reveal if a child is at risk of developing certain familial genetic conditions, allowing for monitoring and preventive measures to be put in place. One example is familial hypercholesterolemia. Early diagnosis in at-risk children allows for the implementation of lifestyle modifications, dietary changes, and sometimes even medication to manage cholesterol levels and reduce the risk of heart disease from a young age.
Newborn Screening
Newborn screening is used to test newborn babies for metabolic, endocrine, and hemoglobin disorders, as well as congenital heart disease and hearing loss. The majority of these diseases are genetic. The testing identifies babies with certain disorders which, without appropriate intervention, can permanently impact them and their families.
Early recognition and treatment of most of these disorders leads to a better outcome for the newborn. Pennsylvania screens newborns for 63 disorders, including sickle cell disease, spinal muscular atrophy, phenylketonuria, and cystic fibrosis.
Carrier Testing
Identifying carriers of genetic conditions through testing is important for all prospective parents, even those without a family history of genetic disorders, since many genetic disorders are rare and may not be evident in family histories. This information helps in family planning and understanding the risks of passing conditions to their children.
HNL Lab Medicine offers carrier screening for 46 recessive and X-linked genetic disorders. Some of the most common conditions include cystic fibrosis, spinal muscular atrophy, Fragile X, and sickle cell disease, which are included in our common carrier screening panel. HNL Lab Medicine also offers an extended carrier screening panel which includes 29 additional genes. For those wishing to test for a specific condition, we offer single gene carrier screening tests.
Choose HNL Lab Medicine
Genetic testing is a necessary component of pediatric healthcare. Early identification through testing allows for tailored interventions, which saves lives and preserves the quality of life of many children each year. Carrier screening can help parents make informed family planning decisions, too.
If you think genetic testing might reveal useful insights into your family’s health, talk to your healthcare provider and choose HNL Lab Medicine for your genetic testing needs. Our commitment to excellence ensures that your family receives the support and guidance you need throughout the testing process.
REFERENCES
Pennsylvania Department of Health. (2024). Newborn screening. Commonwealth of Pennsylvania. https://www.health.pa.gov/topics/programs/Newborn-Screening/Pages/Newborn%20Screening.aspx.
Health Resources & Services Administration. (2023, December). Newborn screening. Department of Health and Human Services. https://newbornscreening.hrsa.gov/your-state/pennsylvania.