Genetic clinical applications

In this chapter, we review some of the practical clinical applications of genetic research. Once a gene is identified, it becomes feasible to diagnose the associate genetic disease in at-risk individuals. In addition, gene therapy, the correction of mutations in cells, becomes a possibility. 

The interaction of ultrasound waves with microbubbles allows a drug (including genetic material for gene therapy [10]) to be released from the particles selectively at the desired insonified areas of the body, thus allowing targeted delivery of therapeutic agents. Currently, this approach is still far from clinical application. 

Although they remain less effective than inhaled corticosteroids, a 5-LOX inhibitor (zileuton) and selective antagonists of the CysLTl receptor for leukotrienes (zafirlukast, montelukast, and pranlukast see Chapter 20) are used clinically in mild to moderate asthma. Growing evidence for a role of the leukotrienes in cardiovascular disease has expanded the potential clinical applications of leukotriene modifiers. Conflicting data have been reported in animal studies depending on the disease model used and the molecular target (5-LOX versus FLAP). Human genetic studies have demonstrated a link between cardiovascular disease and polymorphisms in the leukotriene biosynthetic enzymes, in particular FLAP, in some populations. 

Acylcarnitines are quantified by MS/MS, with their profiles playing a critical role in every clinical application of biochemical genetics prenatal diagnosis, newborn screening, evaluation of symptomatic patients, and postmortem screening. As with other complex metabolic profiles, it is critical to complement analytical proficiency with in-depth interpretation of results and informative reporting. 

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