Northern Genetics Service

New technology

Although genetics was quite advanced as a discipline in other organisms, it wasn’t until 1956 that the exact number of chromosomes in humans was obtained by scientists. Over the years, methods have greatly improved for preparing and studying the human karyotype by microscopy, and the larger rearrangements of chromosomes are often identified by skilled cytogeneticists and can be confirmed by a range of other techniques. Automation has made this process quicker and now allows the scientists to concentrate more on experienced examination and evaluation of the results.

Genetics has made huge progress over the last few years especially following the completion of the first sequence of the human genome in 2001. Much more is now known about the genetic causes of human diseases and identification of disease genes has progressed rapidly not just for the simply inherited genetic disorders but also for those very common multifactorial conditions and cancers that have both genetic and environmental components.

Observation of chromosomal rearrangements has progressed with new techniques dependent on developments from the genome project. Chromosomes can now be studied using chromosomal microarrays (CMA) which are capable of resolving much smaller unbalanced rearrangements than can be observed by conventional microscopy.

The first human genome sequence took many years and a huge co-ordinated effort to complete. Emerging new technologies for DNA sequencing mean now that such work can be done much quicker, a progress that will undoubtedly continue in the near future. Not far away is the scenario allowing for quick and cheap genome sequencing for individuals. In hand with the technological developments is progress in making sense of the huge amounts of data that they provide. Advances in bioinformatics have allowed for the development of databases, often linked in complex ways, with graphical interfaces to present the information to scientists in meaningful form. The data is often underpinned by extensive and pain-staking biological research.

Other molecular genetic techniques have advanced along with sequencing allowing for rapid testing of genetic disorders by a range of novel methods providing improvements in accuracy and speed.

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