Biobanking and genetic databases

The OECD has issued recommendations about human biobanks and genetic databases (23 November), and a new report from the Human Genetics Commission sets out proposals for tighter regulation and oversight of the forensic National DNA database (2 December). The UK cancer biobank facility onCore UK is to cease active biobanking (8 December), whilst the Icelandic company deCODE has finally filed for bankruptcy, raising questions about owership of their genetic databases (3 December).

Policy and legislation

In the UK, a consultation has been launched on new plans to allow early access to innovative treatments (and potentially also diagnostics) for rare diseases (11 December), whilst an inquiry seeks views on how the UK can maintain a globally competitive position in synthetic biology, stem cells and genetics engineering (17 November). In the US, the second part of the US Genetic Information Nondiscrimination Act has been enacted (25 November). A new paper considers issues related to data-sharing from genome-wide association studies (GWAS) conducted in developing countries (27 November).

Genetic disease susceptibility

Large-scale GWAS have identified new genetic variants associated with susceptibility to inflammatory bowel disease (18 November) and Parkinson’s disease (19 November). We also look at developments in handling the uncertainties surrounding estimates of disease risk (11 December).

Genomics and disease

Recent research sheds light on dosage-dependence with a new dosage map of chromosome 18 (24 November), and the role of rare chromosomal abnormalities in extreme childhood obesity (10 December), including cases where affected children had been taken into care on the assumption that parental abuse was the cause of their size. A study in mice has shown that stress in early life can affect long-term gene expression via epigenetic changes (16 November). Returning to human subjects, papers report promising early results for gene therapy for a genetic neurodegenerative disease (13 November) and analyse progress in and limitations of pharmacogenetics (7 December).

New reviews and commentaries

Our selection of recent articles of interest (1 December)

Other recent news and research

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