Personalised Genomics Research Paper

3123 Words13 Pages
BE257 Scientific Literature
Darren Walsh GCB2
Personalised Genomics: Are we there yet?

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Personalised Genomics: Are we there yet? Darren Walsh GCB2


Personalised genomics (PG) is the application of genetic sequencing and gene analysis techniques to aid personalised healthcare. This aims to increase the efficacy and improve the timing of therapeutic and preventative measures against disease by availing of an individual’s genetic biological markers. Personalised genomics can be used in many different ways such as: prenatal diagnosis, disease prognosis, disease diagnosis, stratified risk assessment, genome informed treatment and research relating to lifestyle choices and
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A major problem with clinical application of genomic information is the use of these biomarkers without fully understanding the mechanisms behind them. Without full understanding of the effects of a given SNP on protein shape, function, signalling cascade, gene regulation etc. it is impossible to predict the total effect which a given variant has on a given trait or disease (Zimmern and Kroese, 2007).

SNP associations to disease can also vary depending on the population in question. A study on CFTR mutation frequency in patients clinically diagnosed with cystic fibrosis found that the mutation was present in 72.42% of Non-Hispanic Caucasians, 54.38% of Hispanic Caucasians and 38.95% of Asian Americans (Watson et al., 2004). It is this fluctuation of frequency of variations among different populations that leaves a question mark over the clinical validity of genomic
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This information is prone to change with new associations constantly being discovered. This opens the door for DTC sequencing companies to take advantage of new discoveries and charge the consumer for re-analysis of their genomes (Caulfield and McGuire, 2012). In a follow up report to genetic testing carried out on 2345 people, 61% didn’t feel the need to share their results with their GP as they found nothing concerning and 50% felt that they understood the results (Schmidlen et al., 2014). This report shows the dangers of people undergoing DTC testing and falsely feeling that they have no genetic predisposition to disease, when in fact, they might and it may just not have been discovered yet.

The rise of prenatal genetic testing has brought many ethical debates. One such debate with prenatal genome analysis is the ability for parents to choose the inherited traits of their children. The rise in non-invasive prenatal genetic testing has paved the way for future screening for non-serious conditions and trivial traits such as eye colour, height etc. The ability for humans to choose the inherited traits of their progeny could create many social issues such as the formation of a ‘super class’ generation of individuals that are genetically ‘chosen’

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