Opportunities for Cost Reduction of Medical Care: Part 3

Monte Malach; William J. Baumol


J Community Health. 2012;37(4):888-896. 

In This Article


Genetic research and treatment opportunities are about to explode on the medical scene. The cost of an individual genetic profile was initially over $300,000, but there is now a plan to market a personal genome kit for a dozen diseases at the much lower cost of several hundred dollars. Genetics also has the potential to radically improve the effectiveness of medication. In addition, early diagnoses of diseases can be very cost effective (Note: New on the medical scene is the promise of training the human immune system to kill cancer cells by reprocessing T-cell genes for that function. An immune system trained to kill cancer was reportedly successful in two of three patients with leukemia). The promise of identifying a patient's genetic predisposition to develop certain diseases may permit earlier diagnosis and less expensive treatment. This may even extend to prevention of disease and, eventually, gene surgery.[75–77]

Lynch Syndrome is a hereditary autosomal dominant disease that results in colorectal cancer in up to 2.7% of patients, with a 2.3% occurrence of endometrial cancer. The genes that cause Lynch Syndrome are MLH1, MSH2, and MSH6.[78] However, Lynch Syndrome is not associated with multiple polyposis of the colon. In addition, KRAS gene mutation is associated with 30–50% of colorectal cancers.[79]

Most recently, a genome-wide association with GLCC11 has been identified in individuals with asthma who fail to respond well to standard inhaled glucosteroid therapy.[80] This is a further step toward personalizing the treatment of asthma.[81]

A variant in Chromosome 9P21 also has been associated with recurrent AMI and cardiac death after ACS.[82] In addition, gene variants have been associated with elevated Lp(a) lipid levels and the risk of ACS.[83]

Familial hypertrophic cardiomyopathy (HCM) is one cause of heart failure and sudden arrhythmia deaths. In a study of 320 patients with Familial HCM, a mutation of ACTN2 gene was identified as a potential cause of HCM, as well as a defect in one of 13 genes.[84]

A Beta-2 adrenergic receptor gene polymorphism has been implicated in patients with aggressive Coronary Artery Disease and those with adverse effects resulting from PCI.[85] This suggests that early diagnosis could help to lower treatment costs and save lives.

The metabolism of the anticoagulant clopidogrel is reportedly slowed by a genetic defective variant of enzyme CYP2C19.[86] This may be overridden by a larger dose of clopidogrel. This same gene variant also causes a rapid drug response to protein pump inhibitors and antidepressants.

The Brugada Syndrome has been shown to be related to Gene GPD1-2 on chromosome 3p24. The syndrome causes severe fatal ventricular arrhythmias, right heart failure, and early death.[87] Early diagnosis would be more cost effective and could improve outcomes for Brugada patients.

Patients of European[88] or Asian[89] ancestry have been identified as having a faulty genetic response to Tegretol® (carbamapazine). This may result in the Stevens-Johnson Syndrome (that is, Toxic Epidermal Necrolysis). Tegretol® is also used to treat trigeminal neuralgia, diabetic neuropathy, migraine, and bipolar disorder.


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