The History and Future of Clinical Genetics (Part 3)
Ruth Burton – Product Manager Genomic Solutions
Clinical genetics research tomorrow
The ability to provide affordable personal genome sequencing is likely to have a major impact on clinical genetics research. The technique offers high resolution genome maps, while providing a data source that can be reassessed when new links between the genome and disease are uncovered. However, this technology is not without its problems. The large amount of data produced by sequencing can be difficult to interpret, requiring extensive bioinformatics expertise. To make the data easier to use, software solutions that convert this data deluge into clinically-relevant insights will be essential. Current opinion suggests that aCGH will likely continue to provide the primary solution for genome screening, with sequencing used to probe specific areas of the genome in detail once potential problem areas have been identified.
In order to make full use of the data produced using next generation methods, researchers will need to further elucidate how specific genomic variations impact on disease incidence and prognosis. Genome wide association studies linking single nucleotide polymorphisms (SNPs), copy number variations (CNVs) and large structural rearrangements with the pathology of specific diseases will facilitate accurate disease identification, while suggesting possible avenues for new treatments. For example, studies undertaken by the Wellcome Trust Case Control Consortium (20,000 DNA samples) and in progress by the University of Virginia Center for Public Health Genomics (10,000 samples) involve identifying genetic changes associated with common diseases such as coronary heart disease and Type 1 diabetes respectively. Further studies of this kind will help turn genomic data into a powerful tool for the accurate diagnosis of a wide range of diseases. It will also allow clinicians to predict those individuals who are most at risk of developing a certain ailment, and may help indicate which type of treatment might be best suited to each individual.
Research and diagnosis will both be influenced by an increase in the technical sophistication of next generation techniques. For example, the ever increasing capabilities of process automation will have an impact on the speed, ease and cost of carrying out clinical genetic testing. This will help to maximise accuracy and reproducibility, while facilitating the easy implementation of high-throughput approaches. It is also likely that clinical laboratories will increasingly turn to outsourced services as a means of carrying out sophisticated genetic research. External providers can offer a fast, cost-effective and high quality service by dedicating their time, expertise and resources to specific tests. This simply cannot be achieved by in-house laboratories, as they often need to be flexible enough to provide a wide range of research options, inhibiting them from focusing on the optimisation of a few key methods.
Figure 1: With considerable expertise in delivering industry-leading products and services for cytogenetic analysis, customers can rely on OGT to lead the development and implementation the next wave of clinical research technologies.
Conclusion
The last 400 years have revolutionised our understanding of human biology, revealing the importance of the genome during normal growth and development and allowing us to use this knowledge in research and medicine. Starting with the discovery of cells, and the subsequent analysis of chromosome structure for diagnosing disease, traditional approaches are now making way for techniques that utilise the increased resolution, accuracy and speed offered by the molecular revolution. Currently, clinical research approaches are a hybrid of classical karyotyping mixed with DNA-based technologies. However, microarrays, next generation sequencing and advances in automation have the potential to further improve clinical research, and may eventually replace microscope-based methods. Importantly, industry and government bodies will need to be acutely aware of the implications of generating DNA data, putting in place adequate security measures to protect sample information. Groups such as the ACMG, ISCA and CCMC will form an important part of this process, ensuring that further technological advances are put to good use in improving healthcare. The last 400 years have provided us with many tools for advancing the accuracy and reliability of disease identification. However, at the current rate of technological development, it is unlikely that we will have to wait quite so long to see the next revolution in clinical research.
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Read Part 1 — The birth of clinical genetics research
Read Part 2 – Clinical genetics research today
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