December 2013

1 December 2013

Our telephone numbers are changing

From 18 December all telephone numbers for the PHG Foundation are changing. The main office number will be +44(0)1223 761900. For the new number of an individual staff member please email that staff member directly here or contact the main office.

Coming soon: PHG Exchange

In 2014 the PHG Foundation will launch a new network for all those with interests in policy, health, genomics and bioscience: the PHG Exchange. We’re currently consulting on the final shape of this exciting opportunity for professionals share knowledge and ideas, and engage with the policy-making process, and will be glad to hear your thoughts in due course.

Top story this month

News that Saudi Arabia is to join the race to create a database of 100,000 human genomes provoked much interest this month, not least their decision to use Life technologies’ Ion Proton™ sequencers.

Opinion: What do we require from regulators?

As the US regulator the FDA moves against direct-to-consumer genomics provider 23andMe for non-compliance, PHG Foundation chairman Dr Ron Zimmern and colleagues consider what the regulatory requirements placed on such tests should be.

Policy and regulation

An FDA warning for 23andMe to stop marketing health-related genetic testing and interpretation services was rapidly followed by a legal claim against the company, but the FDA approved the Illumina MiSeqDx sequencing platform for clinical applications.

Genomics England

The first official briefing from GeL set out the essential differences between their 100,000 Genomes Project and that of the recently launched PGP-UK, and was followed by welcome news of funding for UK companies who can offer improved genome analysis.

Gene therapy

In a positive month for genetic therapeutics, hopes are raised for a treatment for haemophilia A whilst early research suggests the distant possibility of inducing healthy fetal haemoglobin production in hameoglobinopathy patients.

Genetics in health services

The NHS has launched a comprehensive new genetic analysis service for variants associated with cardiac conditions, and a broad UK strategy for rare diseases, with details expected in 2014. Research in Hong Kong reveals the views of pregnant women on non-invasive testing for Down’s syndrome, and a new US centre is to examine ELSI related to healthcare genomics.

Genomics round-up

Besides marking the death of double Nobel-laureate and all-round nice guy Fred Sanger, we highlight a useful new report from Sense about Science on the science of side-effects, and news of a gene with a potentially broad role in cancer.

Other news and articles