January 2014

1 January 2014

Top story this month

Non-invasive prenatal test provider Sequenom has provoked intense speculation by announcing plans to launch a new and much cheaper form of aneuploidy test, based on alternative technology and aimed at the low risk, mass antenatal market.

Opinion: The $1000 genome

Illumina appear to have finally broken through that psychologically all-important $1000 genome barrier – at least for the very largest sequencing projects – Dr Philippa Brice considers how much closer this actually brings us to genomic medicine in practice. For those who have not already seen it, this month we also launched the first in a new series of short briefing notes examining complexities of clinical genome sequencing.

Genetic testing and screening

In Quatar there are hopes that population-specific variants can improve screening for inherited diseases; in the US, revisions are proposed for the management of PKU patients, whilst a UK charity calls for coroners to encourage family screening for inherited cardiac disease after sudden deaths of younger people and US and Chinese researchers unveil a new approach to genomic egg screening to boost IVF success rates.

Genetic disease risk and prediction

Genetic variants have been newly linked with risk of type 2 diabetes, cardiovascular disease and rheumatoid arthritis, with hopes for insights that could help personalise medical prevention and care in the future. Similarly, a new clinical classification system for mutations associated with Lynch syndrome should aid diagnosis and management, whilst research shows how sleep deprivation may harm health via genetic effects.


Guidance on incidental findings (including genomic findings) from the US Bioethics Commission takes a different stance from earlier ACMG recommendations, and a new bioinformatics effort aims to support research across Europe.

From bench to bedside

Exciting results from a British gene therapy trial suggest that it may be possible to prevent some genetic forms of blindness, whilst new research reveals that a substantial proportion of DNA exons also exert regulatory control over gene expression.

Other news and articles