Category Archives: Technology

Medical purposes or “purely for information”? The potential applications of non-invasive prenatal testing.

A paper by Deans et al., (2015) offers an alternative viewpoint into ethics considerations surrounding non-invasive prenatal testing (NIPT). NIPT has been developed to detect cell-fetal free DNA in maternal blood. NIPT is more accurate than current screening methods and … Continue reading

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Mitochondrial disease – so what are the next steps?

Last week you couldn’t move for discussion and speculation about the debate of the draft Human Fertilisation and Embryology (Mitochondrial Donation) Regulations that was about to take place in the House of Commons. The media was full of ‘3 parent … Continue reading

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Cancer Genomes – Is sequencing or functional analysis the way forward?

An interesting article in this weeks Nature News looks at the completion of the multi-million dollar Cancer Genome Atlas project and considers which direction future work might take. With nearly 10 million cancer-related mutations identified, data from this project has … Continue reading

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Cancer genetic testing to become a routine part of cancer care

This month has seen the launch of the Mainstreaming Cancer Genetics programme. Led by the Institute of Cancer Research, in partnership with the Royal Marsden Foundation NHS Trust, the Wellcome Trust and Illumina, the three year programme aims to make … Continue reading

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Using genomic information – what makes an expert?

Thanks to the joys of Twitter I have come across an interesting article in ScienceInsider (a news magazine and part of the online presence of the journal Science). Keeping it in the family describes Manuel Corpas’ (a bioinformatician at the … Continue reading

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Born Healthy – reducing the burden of birth defects in developing countries

The Born Healthy programme was established by the PHG Foundation as a response to the urgent need to reduce the burden of birth defects in developing countries. It has recently been singled out in a WHO report as one of … Continue reading

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Non-invasive prenatal testing

Methods for non-invasive prenatal screening and testing using cell free fetal DNA (cfDNA) found circulating in maternal blood are being developed. Testing for certain (sex-linked and skeletal) conditions is currently available in the UK with tests for other conditions including … Continue reading

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Forget ‘Bigger = Better’

I was forwarded a news article today (Science 4 May 2012: vol. 336 no. 6081 pp. 534-537 DOI: 10.1126/science.336.6081.534) that looks at the promise of nanopore technology  in driving genome sequencing. For someone who spent a great deal of time … Continue reading

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