Life Sciences & Society Seminar

Join us on 13 October for our next Life Sciences & Society Seminar where Dr David Erdos will give an insight into his work on the nature of data protection as it intersects with the right to privacy and the freedoms of expression, information and research. The seminar will be at Hughes Hall, Cambridge, starting at 17.30 with drinks and networking after the talk. Please book your ticket in advance here.

Opinion of the month

PHG Foundation’s Philippa Brice looks at the developments and ethical issues in non-invasive prenatal testing (NIPT) since PHG Foundation published the first report to examine the potential health service implications of NIPT.

Infectious disease

The surveillance, prevention and control of infectious diseases in the UK has seen a boost this month. Firstly, it was announced that Public Health England’s (PHE) microbiology laboratories are set to move to a new PHE science hub in Harlow, which could aid the delivery of genomics informed infection control by improving internal cooperation and coordination. Secondly, the annual PHE conference saw the new PHE National Infection Service Prof. Derrick Crook set out his vision for a national infection service. In our blog we are delighted to see PHE take the lead in the development of a national infection service in which pathogen genomics will take a central role, but warn that the new service must implement pathogen genomic services in a coordinated health system wide manner to ensure the benefits to patients are optimised.

Genomic research

It has been a good month for genomic research. The UK10K genomes project shared its data with the scientific community to boost the search for rare genetic variants that increase the risk of disease. Meanwhile the Garvan Institute in Australia and Genomics England have agreed to work together to make genomic information more accessible, meaningful and usable. Also in Australia, a new Single-Cell Genomic Centre of Excellence has been opened.
UK 10K genomes project shares its data
Garvan and Genomics England partnership
New Australian centre for single cell genomics

Genomic testing

A new briefing from the PHG Foundation calls for significant improvements in capturing and exchanging phenotypic information (i.e. description of a patient’s clinical features) across the NHS in order to maximise the benefits of genomic testing. Genomics England has launched PanelAPP which is designed to assist experts in clinical genomics to share their knowledge and experience in order to facilitate the development of reliable, consensus gene panels for specific rare disease testing. In our blog we welcome the launch of the innovative PanelApp but also highlight that for genomics to be optimised in clinical practice there remain many issues to be addressed. In a separate blog we look at the important role of the health economics GeCIP domain of the 100,000 Genomes project in providing information on where whole genome sequencing (WGS) is most likely to best represent value for money within the NHS. Lastly, we comment on the benefits and risks of a new commercial genome sequencing service in the UK and South Africa.
What's in a phenotype? Next-generation genomic diagnosis
Genomics England launches tool to crowdsource rare disease gene panels
PanelApp - the catalyst to drive improved gene panel testing?
Money matters: shaping the use of genomics in the NHS
Commercial genome sequencing as 'health screening' launched

Personalised medicine

Progress in personalised medicine is anticipated following news that the US National Institutes of Health is injecting more funding into the Electronic Medical Records and Genomics (eMERGE) network. In the UK, the Medical Director of NHS England has outlined a broad strategy for shifting the National Health System (NHS) towards delivery of personalised medicine. In Liverpool, a consortium of health partners has launched a report outlining an action plan intended to make the city a leader in precision medicine. Commenting on a new publication setting out the key challenges on the road towards personalised medicine we stress the need for a body to spot potentially disruptive or transformational healthcare technologies on the horizon.
NIH funds to move precision medicine closer to reality
NHS strategy for Personalised Medicine revealed
Plans to make UK North West a leader in precision medicine
Personalised medicine: the path to early patient benefits

Innovations and digital health

With the expanding field of health apps, we explore whether there needs to be a rethink in regulation. In new innovations, Novartis and Google are teaming up on wearable technology.
Do we need to rethink regulation for health apps?
Novartis and Google team up on wearable technology

Genomics and disease

Dementia has been in the news this month with the Office of Health Economics (OHE) predicting that one in three born in the UK this year could develop dementia. While new research reports on a genetic signature of ageing that could provide a good indication of future cognitive health. In other research, a variant in the SERT gene, which was previously linked with depression might also help people to be happier.