November 2013

1 November 2013

Top story this month

Worrying developments in the European Parliament mean that laws relating to data protection and medical devices look set to undermine genomic research and widespread clinical use of genetic testing.

Opinion: 200,000 genomes for the UK?

With the launch of the UK arm of the Personal Genome Project and the call for 100,000 citizens to donate their data for an open access repository, Head of Knowledge and Communications Dr Philippa Brice considers the potential impact.

Genomics England

The company charged with delivery of the UK’s 100,000 Genomes Project announces its second major collaborative pilot scheme and moves to commission service providers.

Opinion: Genomics is relevant to children’s health

Responding to the Chief Medical Officer’s calls to improve the health of children, PHG Foundation chairman Dr Ron Zimmern and colleagues examine the opportunities offered by genomics.

Personalised medicine

With a surge of cancer-related genetic test news, both new research programmes and policy developments set out to underpin personalised medicine in North America.

Genetic sequencing, testing and screening

Non-invasive prenatal testing (NIPT) comes to the fore with news of a major UK study on clinical implementation and a US legal ruling against commercial test provider, Sequenom, as well as developments in the DNA sequencing market and approval of new genetic tests.

Ethical issues

A contentious use of sex-specific embryo selection to avoid autism underlines the importance of public debate over use of a potentially transformative genetic engineering method, and a consultation sets out to examine ethical issues posed by the of linking, analysis and use of biological and health data.

Policy developments

Use of the PHG Foundation Health Needs Assessment Toolkit for Congenital Disorders (also called birth defects) has resulted in a new law and change of government policy to support newborn screening. The US public’s views on genetic privacy and related issues are found to fit closely with Government policy whilst the NHS seeks input to help develop specialised services for rare conditions.

Genomics and disease

Multiple new genes have been implicated in the risk of developing common, late-onset Alzheimer’s disease and mutations in a non-coding, regulatory region of the genome have been shown to cause a rare genetic disease.

Other news and articles