Policy and regulation

2011 has begun with a drive towards improved scientific innovation and clinical translation. In the UK, this has involved new proposals for major changes to the regulatory structure for medical research (11 January). These very properly seek to boost innovation and speed clinical translation, but are already provoking concerns that the protective element could be diminished or lost as questions arise over the legal status of human embryos (11 January). A new translational research centre is to open in the US (17 December), where commentators have warned against an excessively burdensome regulatory regime as personal genome testing costs continue to fall (5 January).

Genetic testing and analysis

Non-invasive testing for Down’s Syndrome has been in the news this month, with results from a high-profile new clinical trial for use as a screening tool in high-risk pregnancy women (14 January), and a planned new trial of a commercial diagnostic test (10 January).

New applications of genomic data for personalised medical applications have been reported: diagnosis and treatment of a child for a severe inflammatory bowel condition following exome sequencing (7 January), and the potentially beneficial use of genotyping to refine PSA prostate cancer screening (16 December). Public attitudes towards genetic testing for variants said to be linked to risk of depression may be unexpectedly positive, irrespective of clinical utility (4 January).

Genomic research

New papers have reported on links between genetic variants in populations of European descent and the risk of endometriosis (15 December), and of abnormal heart rhythms linked to heart failure (7 January). A genetic study in mice has suggested that muscular dystrophy is not purely a genetic disorder, creating new avenues for therapeutic development (14 December). New methods for haplotyping using next-generation sequencing technologies have also been reported (12 January).

New reviews and commentaries

Our selection of recent articles of interest (4 January)

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.