Using Genetic Testing to Target Disease

A new study recently published in the journal JAMA Pediatrics indicates that young children with epileptic seizures should be given routine genetic testing.

The study’s lead author Anne Berg, of the Stanley Manne Children’s Research Institute at Lurie Children’s Hospital of Chicago, states: “Precision medicine means nothing without precision diagnosis, and we can now provide precision diagnosis.”

Many researchers and physicians have supported the idea that genetic testing should be incorporated into routine initial evaluations, specifically of young children with epilepsy: the sooner a precision diagnosis is made, the sooner the child can begin effective treatment. Moreover, the level of genetic information provided through testing is extremely successful in helping physicians identify which drugs and treatments are effective, and which to avoid.

Not only does this study reinforce data that could successfully and effectively change epilepsy diagnosis, but it also confirms the idea that precision medicine should be a fundamental part of standard clinical practice.

Yet this is by no means the first study surrounding the idea that genetic testing could potentially transform levels of care, as many conditions have underlying genetic causes. Due to advances in DNA testing technology, clinicians are now able to provide more accurate, precise, and individualized ways to pinpoint genetic variations that lead to disease. Over the past two decades, the number of genetic disorders for which DNA testing is available has increased from about 10 to over 1,000, due to advances in molecular genetics.

For many disorders, genetic testing is the only way to make a completely accurate diagnosis—and avoid additional, unnecessary clinical investigations. With some genetic diseases, a combination of good surveillance and early intervention can decrease the risk of mortality, and be helpful in future family planning. Clinicians who can understand and interpret the data generated by genetic testing will be more able to choose the most appropriate, suitable therapies and support strategies for patients.