Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing

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From: Pharmacogenomics(Vol. 16, Issue 10)
Publisher: Future Medicine Ltd.
Document Type: Report
Length: 4,499 words
Lexile Measure: 1620L

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Author(s): Raffaella Cascella [*] aff1 , Laura Stocchi aff1 , Claudia Strafella aff1 , Ivano Mezzaroma aff2 , Marco Mannazzu aff3 , Vincenzo Vullo aff4 , Francesco Montella aff5 , Giustino Parruti aff6 , Paola Borgiani aff1 , Federica Sangiuolo aff1 , Giuseppe Novelli aff1 , Antonella Pirazzoli aff7 , Stefania Zampatti aff8 aff9 , Emiliano Giardina aff1 aff8


DNA source; HLA-B*57:01 testing; hypersensitivity reaction; molecular assay; personalized medicine; pharmacogenetics


The novel proactive healthcare model is mainly oriented towards the demystification of the disease and the maintenance of the patient welfare, in order to introduce an innovative medicine approach: the 4P Medicine [ 1 ]. This healthcare model consists of four specific 'ingredients': Prediction, Prevention, Personalization and Participation. The Predictive component concerns the exploitation of the genomic information with the aim of evaluating the individual susceptibility to complex diseases or to the drug response degree. The wide knowledge of the human genome can be further employed for the Prevention of disease conditions and the Personalization of the treatment. The predictive, preventive and personalized medicine are expected to involve the full participation of the patient, who represents the real hinge of the proactive medicine [1,2 ]. The 4P approach is essentially based on the employment of the human genome variability to improve the individual response to the pharmaceutical treatments and avoid drug adverse reactions. To this purpose, the pharmacogenomics discipline has been developed to promote a safer, more efficient and personalized therapy (i.e., 'the right drug to the right patient') [3 ]. The importance of pharmacogenomics in the clinical practice is provided by the identification of specific genetic polymorphisms (SNPs and copy number variation, [CNV]) that are able to affect the effectiveness and toxicity of the drugs [4 ]. An excellent example of the pharmacogenetic research application in the clinical practice is the genetic screening for HLA-B*57:01 allele in HIV infected patients. The HLA-B*57:01 has been significantly associated with a higher risk of developing hypersensitivity reaction (HSR) after abacavir administration (ABC, one of the most efficient antiretroviral drugs) [5-8 ]. Economic evaluations of the HLA-B*57:01 screening in the treatment of HIV patients proved to be cost-effective, resulting in a large reduction of the costs required for HSR treatment [ 9-11 ]. On the basis of this result, the US FDA and the EMA made the HLA-B*57:01 screening obligatory prior ABC treatment (from the FDA alert released on 24 July 2008: 'Screening for the HLA-B*5701 allele is recommended for all patients prior to starting abacavir therapy').

The demand for pharmacogenetic tests providing fast, high-quality, reliable and repeatable data encouraged the centralization of laboratories offering pharmacogenetic analysis. The usefulness of centralized diagnostic services lay on the higher-quality support concerning the analysis and results interpretation, which can be supplied only by specialized centers [ 12 ].

The centralization of diagnostic and medical centers providing pharmacogenetic tests has given special emphasis to the infectivity and safe transport of 'infectious substances.' The WHO defines these substances as: 'substances which are known or are reasonably expected to contain pathogens (bacteria, viruses, rickettsiae, parasites, fungi) and other agents such as prions, which...

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Gale Document Number: GALE|A428534842