Since the Human Genome Project first reported the complete mapping of the human genome in 2003, the general public has also become far more aware of genetic testing. As well as the benefits offered by companion diagnostics, many patients are now looking for genetic 'explanations' of congenital disease, even those without known treatment strategies. Similarly, physicians are increasingly finding themselves relying on specialist molecular diagnostics facilities to provide insight into individual cases across a broad range of disciplines. These can help identify relevant genetic tests for everything from coagulation and anesthesia for surgical procedures to prenatal genetics and medically-assisted procreation.
The genetic testing laboratories now serve such a diverse range of medical specialties that individual centers can no longer support the required expertise across every field. No single center can possibly maintain comprehensive knowledge of every genetic abnormality, so laboratories need easy access to sequencing data, current understanding and prescribing practices from across the globe - to aid physicians and, ultimately, improve patient care.
In this scenario, industry has a crucial role to play: providing data interpretation tools, able to match raw sequences to existing databases, search for relevant mutations, for related scientific and clinical information and treatment strategies in the best case. This would not only provide physicians with the information required to act on the results they receive, but would also free up resources for more clinical research – further improving patient care in the long term.
At the other end of the spectrum, the ever-increasing demand for testing means that sample numbers will continue to rise for molecular diagnostics laboratories around the globe. This calls for high throughput systems spanning all workflow steps, from pre-analytical sample testing to setup and testing. While the liquid handling technologies required for this type of system already exist, there is a need for complete solutions that are reliable and easy to use, while still providing the flexibility to work with a variety of sequencing chemistries and assay technologies. NGS is just beginning to benefit from this approach, with automated library preparation now available. But even more needs to be done to provide solutions that minimize turnaround times and the risk of human error.
It’s only when the information that links genetic mutations to disease state is widely accessible, and molecular diagnostic laboratories can address the demand for comprehensive test menus, that the true value of genetic sequencing will reveal itself.
AUTHOR: MARINA D’ENZA, TECAN PARTNERING
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