We present an analysis of a series of articles on personalized medicine in the August issue of Genetics in Medicine (19 August). In the specific area of direct-to-consumer genetic testing services, we report news of US surveys into public awareness and understanding of such tests (21 August), and a new public consultation on a draft set of principles governing this area by the UK Human Genetics Commission (8 September).

Policy, regulation and biobanking

Biobanks have been challenged to develop revised policies to protect the interests of minors (24 August), particularly concerns abut loss of anonymity. Meanwhile, new software has been developed to reduce the possibility of the identification of individuals from genotypic data made available for research (14 September). Biobanking projects in the UK and China have received new funding (19 August), and a European-Chinese group has called for improved regulation of stem cell research and therapeutics internationally (9 September). A US report has recommended that scientific advice and policy decisions be more clearly distinguished (17 August).

Genetic disease and therapeutics

New research that could be a step towards the production of healthy embryos using eggs from women affected by mitochondrial diseases and healthy egg donors has raised ethical debate (28 August). In the UK, promising reports from trials of gene therapy for Duchenne muscular dystrophy have come at the same time as a report citing serious inequalities in access to specialist care and (31 August). There are hopes that a new map of disease-drug interactions will enhance research into alternative treatments and new drugs for different conditions (26 August).

Genomic research

We report on the accelerating pace of commercial genome sequencing for research purposes (11 September), a technique to identify rare disease-associated genetic variants (18 August), and the first application of next-generation sequencing technology to measure the rate of mutations in humans (3 September). Large-scale genome-wide association studies on Alzheimer’s disease confirmed the previous association with the APOE gene and identify novel risk variants (10 September), whilst another identified common genetic variants linked to modest alterations in the risk of lung cancer (4 September).

New reviews and commentaries

Our selection of recent articles of interest (1 September)

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.