This month we are delighted to announce the appointment of Dr Hilary Burton as Director of the PHG Foundation.

Genetic testing, data and policy

Genomic sequencing and analysis have featured prominently in the news this month, both for the potential diagnosis of rare diseases (20 September4 October) and more common ones such as heart disease (7 October) and ADHD (30 September). In policy developments, the UK Nuffield Council on Bioethics has called for more regulation of direct-to-consumer genetic tests and other forms of personalised healthcare (12 October), and the US SACGHS has held its final meeting, which looked at evidence for the future impact of whole genome sequencing (7 October).

Other policy news

Spending cuts have been a key feature in the UK, with the news that a large number of government funded bodies are likely to close, including key players involved with genetics, human tissue and health (27 September), and a new campaign against cuts to science funding (6 October). The Indian government has set out hopes to boost global scientific prominence (5 October), and a survey of science students found, unsurprisingly, a general approval of synthetic biology (22 September).

Medicine and post-genomic research projects

In medical news, the Nobel Prize has been awarded to Robert Edwards for his work in developing the technique of IVF (4 October); the first human clinical trials of a stem cell treatment (for spinal cord injuries) has begun (12 October), and positive results from gene therapy for beta-thalassaemia have been reported (23 September). There have been new developments from the National Children’s Study (5 October), Structural Genomics Consortium (8 October), Human Proteome Project (29 September) and Roadmap Epigenome Project (14 October).

Other research news

From the scientific and medical literature, we report on the use of circulating DNA as a biomarker for cancer detection (15 September), the efficacy of preventative surgery in BRCA mutation carriers (21 September) and evidence for prostate cancer screening in high risk males (16 September). New evidence for the role of genetic factors in Alzheimer’s disease progression (22 September) and male infertility (6 October) has been published, along with data on the impact of physical activity on genetic risk of obesity (24 October) and the possible regulatory role of long non-coding RNA elements in the human genome (13 October). A paper also reports on the benefits of large-scale research projects to unravel the genetics of heart disease (14 October).

Publications and reviews

Our selection of recent reviews and commentaries (1 October)

Other recent news and research

See also the Genomics & Health Weekly Update from the CDC Office of Public Health Genomics and theGenInfo Monthly Newsletter from HumGen.