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    Personalized medicine: Right drug, right patient, right time

    The premise is to use a patient’s own genetic information to guide decisions for prevention, diagnosis, and treatment of disease and other health conditions.


    Diseases benefitting from genetic testing


    Although not widely used in clinical practice yet, research has identified genes that eventually could significantly impact how pediatricians treat asthma. In one study, a gene present in 14% of asthmatics demonstrated a poor response to salmeterol and an improved response to montelukast. The study was small; however, the impact for the 62 treated patients was significant. Importantly, the cost of the test was less than $20, making it incredibly cost effective.6

    More: Adverse childhood experiences are linked to ADHD

    Likewise, another study identified a genomic marker indicating a poor response to inhaled steroids.7 Both studies demonstrate the promise of personalized medicine: to identify therapies to which patients are more likely to respond, to avoid treatments from which the patient will be unlikely to benefit, and to avoid potential adverse effects.


    Azathioprine is one of the most common treatments for Crohn disease and inflammatory bowel disease. However, low or absent levels of the thiopurine S-methyltransferase (TMPT) enzyme can lead to toxicity and dose-dependent adverse effects. As a result, standard of care is now to check the levels of TMPT before beginning treatment. Azathioprine may still be used but will often have the dose reduced to attempt to avoid toxicity.1


    In attention-deficit/hyperactivity disorder (ADHD), the presence of several different genes have shown a positive effect related to treatment symptomology. However, no specific gene or combination of genes has been associated with a clinically relevant treatment impact.8,9 A slightly different take has demonstrated a neurobiologic subgroup of ADHD patients with electroencephalograph (EEG) characteristics that may identify a specific treatment. Electroencephalograph studies of ADHD with a subgroup termed “impaired vigilance” demonstrate excess frontal theta or alpha activity that will respond to stimulant medication. These patients, if depressed, may not respond to traditional antidepressant therapy and may need larger doses of stimulant medication instead. Another subgroup of patients with a slow individual alpha peak frequency on EEG demonstrates resistance to treatment for both ADHD and depression.10

    Commercially available tests such as GeneSight collect a patient’s DNA through a buccal swab. The provider is then given a report on how individual and combinations of a patient’s genetic makeup may impact treatment with certain US Food and Drug Administration (FDA)-approved medications for ADHD as well as other behavioral health conditions. Assurex Health (Mason, Ohio), the maker of GeneSight, has demonstrated significant improvement in depressive scores, increased likelihood of a treatment response, and decreased costs when this testing is used in adult patients with depression.11-13 The company includes in its panel common drugs the pediatrician will use in treating ADHD.

    NEXT: Pain management and pediatric cancer

    Pat F Bass III, MD, MS, MPH
    Dr Bass is Chief Medical Information officer and professor of Medicine and of Pediatrics, Louisiana State University Health Sciences ...


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