August 2014

27 August 2014

Director's blog

With the announcement earlier this month of massive new investment in the 100,000 Genomes Project by the UK government, Director Dr Hilary Burton celebrates this as a key transition point for genomic medicine and highlights the challenges that still lie ahead.
A new era for healthcare

Opinion of the month

With scientific promise on the one hand and political criticism of the UK government response on the other, Head of Knowledge and Communications Dr Philippa Brice calls for more joined-up thinking in science and health policy.
Using science for health: lessons from Creutzfeldt-Jakob disease

Infectious diseases

Genomics and infectious diseases are the predominant theme this month; a guest blog by Dr Cath Arnold from Public Health England sets of PHE’s progress and plans for using genomics, whilst our Programme Lead for Science Dr Leila Luheshi highlights two current examples of how genomics is being put to use tackling pathogens and the implications of such approaches.
Public Health England Initiative for Infectious Disease Genomics
Real time genomic epidemiology comes to England
How bacterial genomes could help tackle antibiotic resistance

Genetic testing and screening

As US regulator the FDA sets out plans for new approaches to oversight of genetic tests, the UK announces plans to broaden routine antenatal screening to include additional common chromosomal disorders besides Down’s Syndrome. The PHG Foundation has released a new publication examining current and potential future quality assurance systems for genomic analysis.
A new risk-based approach for genetic test regulation in the US
UK plans to expand pregnancy screening for genetic disorders
Setting the right standards for clinical genome analysis

Policy & personalised medicine

The UK Prime Minister has announced £300 million funding for the 100,000 Genomes Project and the development of genomic medicine. This includes a major new collaboration with company Illumina, who are also involved with a new partnership in the Middle East. Meanwhile, the European Medicines Agency seeks views on draft guidance on the use of genomic biomarkers in clinical trials.
UK set to be world leaders in genetic research
Qatar growing as a hub for genetic medicine
EU consults on genomic biomarkers for personalised medicine

DNA sequencing and data sharing

Underpinning all the developments in genomics and health, work on further improvements to DNA sequencing continues with new funding for research and a broad focus on nanopore approaches, whilst the Global Alliance for Genomics and Health has released a new interface to facilitate sharing of sequence data.
Quest for better DNA sequencing techniques continues
Increasing focus on nanopore DNA sequencing
Mobile genomics: Early insights & excitement
New tool for collaborative genomic data sharing

Genetics and disease

Major news this month is the new understanding of the cancer risks conferred by mutations in what has been dubbed the ‘BRCA3’ gene; rather further from clinical implementation, it has been suggested that epigenetic analysis could predict depression risk. Genome editing is used to good effect in a mouse model of muscular dystrophy and new research suggests that a genomic approach to cancer classification could improve outcomes.
Genomic cancer classification system could improve care
Epigenetics could help predict stress-related illnesses
PALB2 gene dramatically increases breast cancer risk
Therapeutic prospects for CRISPR genome editing