Pediatric Genetic Testing: Unwinding the Risks of Disabilities among Children

Congenital disabilities such as Down’s syndrome, thalassemia, sickle cell anemia, cystic fibrosis, and epilepsies are some of the most prominent causes of disabilities as well as death among children globally. These disorders are caused due to genetic abnormalities within the child before or at the time of birth. Moreover, such genetic diseases are responsible for infants’ deaths worldwide and are a significant contributor to causing a global economic burden for diseases. For instance, according to the National Birth Defects Prevention Network (NBDPN) annual data report, the U.S., the newborns with Down’s syndrome increased in the last two decades. However, this increasing economic burden of genetic diseases can be reduced by conducting an early diagnosis through molecular genetic testing techniques. The following figure represents the rising global death incidences due to Down’s syndrome from 2012–2015.

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The increasing environmental factors, such as chemical factors, radioactive factors, and biological factors, have escalated the mutation rate, which has consequently elevated the need for the development of best gene therapeutic procedures, personalized medicine, and diagnostic procedures with less turnaround time. Several conglomerate companies and start-ups, including Quest Diagnostics, Eurofins Scientific, Invitae Corporation, and OPKO Health, Inc., among others, have been making significant investments in the fields of molecular diagnostic advancements to offer effective pediatric genetic testing.

Pediatric Genetic Testing allows the identification of risks as well as the presence of genetic abnormalities in a child or newborn. These genetic disorders can be somatic or inherited, and their identification involves the deployment of advanced molecular techniques, such as next-generation sequencing and polymerase chain reaction (PCR). The early diagnosis of the disease may lower down the risks of adverse events caused by disorders among the children. Also, such testing may reduce the overall healthcare spending for treatment and management of the disease if diagnosed at an early stage.