Fish and chips all round? Regulation of DNA-based genetic diagnostics

✍ Scribed by Katherine Payne

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 68 KB
• Volume: 18
• Category: Article
• ISSN: 1057-9230
• DOI: 10.1002/hec.1553

✦ Synopsis

Healthcare is experiencing considerable advances in technical innovation with the development and introduction of DNA-based genetic technologies, in general, and diagnostics, in particular (hereafter called 'genetic tests'). The genomic era is already affecting healthcare systems, although currently on a relatively small scale. The UK Genetic Testing Network (UKGTN) currently lists over 400 genetic tests to diagnose or predict the risk of single-gene disorders. Genetic testing is likely to have an insidious effect on future healthcare resources in part due to the lack of a regulatory framework supporting the development of a robust evidence base. The informational requirements for service commissioning of genetic tests have not yet been adequately addressed. The current regulatory climate for genetic tests drives a restricted focus on outcomes of analytical accuracy with stringent quality assurance and quality control procedures enforced by the laboratories providing such testing. Furthermore, in the absence of a transparent national pricing tariff the acquisition and broader cost impact of such genetic tests are not known. Currently, service commissioners have an overly simplistic view and focus on test diagnostic accuracy. To understand the true opportunity cost of a genetic test, it is necessary to describe how the test affects the referral of patients to care pathways, subsequent services and treatments.

There are many types of genetic tests and many different potential roles including: (1) to inform or predict disease diagnosis or carrier status for single-gene disorders and, to a lesser extent, for multifactorial conditions; (2) to help predict disease prognosis, such as in cancer, and (3) to target the selection of medicines (pharmacogenetic tests). Pharmacogenetic tests can be used to predict and target medicines to good responders or identify whether an individual has an increased risk of a specific adverse drug reaction from a particular medicine. All diagnostic tests are made up of a platform to run a chip and/or a collection of reagents that should ideally have a CE ('Conformite´Europe´ene') mark provided by the Medicines Healthcare Regulatory Agency (MHRA). Fewer than 1% of genetic tests have a CE mark (Rob Elles, personal communication, 2008). The majority of genetic tests are in-house developed tests offered by accredited laboratories and only a handful of commercially marketed genetic testing kits exist. An example of a genetic test offered by selected NHS laboratories is HER-2 testing to identify women with breast cancer who will respond to trastuzumab. There is ambiguity regarding the optimal HER-2 testing method (Phillips, 2008). In the UK, the HER-2 test comprises a two-step procedure, which includes as the second step, using the fluorescence in situ hybridisation (FISH)