Abstract
Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodologies have emerged, allowing the genetic testing industry to grow at a very rapid pace. As a consequence, a considerable number of different private diagnostic testing laboratories now provide a wide variety of genetic testing services, often employing a direct-to-consumer (DTC) business model to identify mutations underlying (or associated with) common Mendelian disorders, to individualize drug response, to attempt to determine an individual’s risk of a multitude of complex (multifactorial) diseases, or even to determine a person’s identity. Recently, we have noted a novel trend in the provision of private molecular genetic testing services, namely saliva and buccal swab collection kits (for deoxyribonucleic acid (DNA) isolation) being offered for sale over the counter by pharmacies. This situation is somewhat different from the standard DTC genetic testing model, since pharmacists are healthcare professionals who are supposedly qualified to give appropriate advice to their clients. There are, however, a number of issues to be addressed in relation to the marketing of DNA collection kits for genetic testing through pharmacies, namely a requirement for regulatory clearance, the comparative lack of appropriate genetics education of the healthcare professionals involved, and most importantly, the lack of awareness on the part of both the patients and the general public with respect to the potential benefits or otherwise of the various types of genetic test offered, which may result in confusion as to which test could be beneficial in their own particular case. We believe that some form of genetic counseling should ideally be integrated into, and made inseparable from, the genetic testing process, while pharmacists should be obliged to receive some basic training about the genetic tests that they offer for sale.
Highlights
Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process
Molecular genetic testing technology has evolved such that low- and medium-throughput methods have been largely replaced by high-throughput genome-wide microarray-based assays, an important advance which has allowed the genetic testing industry to grow at a very rapid pace [4]
A considerable number of different private diagnostic testing laboratories provide a wide variety of genetic testing services and over 2,000 specific genetic tests, often employing a direct-to-consumer (DTC) business model [4]
Summary
Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process. These private genetic laboratories offer the following types of genetic test: (a) genetic tests for the detection of single-gene (Mendelian) disorders; (b) pharmacogenomic tests to individualize drug (including cancer) treatment, e.g., to guide specific mutation-targeted treatment decisions; (c) ‘predictive genomic testing’ for complex disorders and traits, e.g., heart/cardiovascular disease, osteoporosis, diabetes, athletic performance, etc.; (d) nutrigenomic tests, to individualize diet choices with the aim of bringing about weight loss; and (e) identity DNA testing.
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