November/ December 2014

15 December 2014

Director's blog

Dr Hilary Burton considers the recent Innovative Medicines and MedTech review, applauding the movement of innovation to the top of the health policy agenda but also warning of the need for efforts to ensure prompt adoption in clinical practice.

Opinion of the month

Programme Lead for Science Dr Leila Luheshi discusses how genomics can be used to reduce the incidence of healthcare associated infections, and examines key policy questions that must be addressed to allow implementation.

New resources

A major new PHG Foundation report provides important recommendations for the application of genome sequencing in clinical practice, based on extensive work across the spectrum of UK stakeholders. New publications set out the health economics of using array CGH technology to diagnose learning disability, and fresh guidance for clinicians and patients on genomic approaches to diagnosis from Cambridge University Health Partners. Finally, a new briefing explains how genomics is being used to combat the serious issue of antibiotic resistance.

Realising Genomics in Clinical Practice - a framework for action
Array CGH testing for learning disability - when is it worth it?
Improving diagnosis in intellectual disability
Using genomics to tackle antimicrobial resistance

Infectious diseases

This month saw the news that sequencing provider Illumina has plans for a genomics-based clinical microbiology service, and early research that suggests hope for a new treatment for methicillin-resistant S. aureus, MRSA. Researchers have shed light on genetic factors that can affect individual resistance or susceptibility to the horrific Ebola virus. See also Pathogens, genomics and plumbing and Using genomics to tackle antimicrobial resistance, above.

Illumina plans bacterial genomics clinical microbiology service
New drug to combat antibiotic resistant bacteria
Genetic factors may influence Ebola virus susceptibility

Personalised medicine

Personalised medicine has been a major focus for UK policy developments, with fresh news of Australian ambitions to embrace the approach. The first gene therapy has been approved for sale in Europe whilst new research aims to improve cancer treatment and different forms of transplantation.

Plans to reform UK biomedical sector around personalised medicine
Australia aims for personalised medicine
Immunotherapy prospects receive boost
Experimental medicine to improve blood and organ donation
First approved gene therapy sets new price record

Clinical genomics

A busy few weeks for clinical genomics has seen the launch of Genomics England’s Clinical Interpretation Partnerships and commercial developments in genomic data storage and analysis. The American College of Medical Genetics and Genomics has revised its policy position on compulsory opportunistic screening in clinical whole genome sequencing, whilst retaining a very different approach from that advocated in the UK (see Realising Genomics in Clinical Practice, above). New evidence suggests that the views of genomics health professionals on such matters may also diverge from those of their patients.

Calls for researchers and doctors to join 100,000 Genomes Project
Google Genomics offers cloud-based sequence data services
Funding boost for clinical genomics company Congenica
US clarifies position on secondary findings in clinical genome sequencing
UK public at odds with health profession on genetic testing of children

Genetic testing and screening

Controversy has been sparked by a covert ‘test’ of non-invasive prenatal testing services in the US using samples from non-pregnant women; company 23andMe, currently banned from offering health-linked personal genomics services in the US has launched a pared-down version in the UK. Meanwhile there has been varied news around the issue of genetic susceptibility to cancer, and new possibilities for greater personalisation of cancer treatments raised.

Quality control concerns in non-invasive prenatal testing
23andMe launches personal genome testing service in the UK
More cancer screening needed for high risk groups
Genetic risk information does not affect cancer screening uptake
Tumour screening: making resistance futile?

Other policy developments

The UK government has released a new framework for using data and technology to improve patient health and care outcomes, whilst the importance of fresh funding in UK scientific innovation (including translational genomics and synthetic biology) has been underlined. The loss of the chief scientific advisor to the EU has provoked concerns among many, and Canada has weighed into international legal disputes on the controversial issue of gene patenting.

Reaping the benefits of the digital revolution for health
Canadian legal challenge to human gene patents
Calls for massive investment in UK's scientific innovation base
Bad day for policy as EU chief scientific advisor role scrapped

Research news

In other recent research news, researchers have shed light on genetic factors that can affect individual resistance or susceptibility to the horrific Ebola virus. Genetic links have been identified with violent crime and respiratory disease, the latter thanks to the ferret genome sequence. Moving on from genomics to proteomics, scientists have shown that the testes have the most distinct set of proteins of any tissue in the human body.

Warrior gene finds partner in violent crime
Ferreting out genomic clues to respiratory diseases
New map of the human proteome: brain v balls