Genomic medicine, research and policy

Strategic plans for research have been released by major public bodies this month; China talks of a new focus on innovation and translation, including in regenerative medicine and public health (8 February), whilst the US National Human Genome Research Institute has set out a vision for the future of genomic medicine (14 February). International genomic research projects are thriving, with launch of the new Genetic European Variation in Disease initiative (7 February) and International Genomics of Alzheimer's Project (10 February), along with news that China is to become a major partner in the Human Variome Project (2 February).

Genetic testing and screening

Newborn screening programmes in the United Arab Emirates have been expanded to include new conditions (24 January), and an interesting new study has shown potential to use stored newborn bloodspots for genome profiling, with potential application for population research (20 January). Research has been published examining the use of whole genome sequencing to allow pre-conception carrier screening for a large number of genetic diseases (18 January) whilst in Germany there have been renewed calls for legal amendments to allow preimplantation genetic diagnosis (PGD) for serious diseases (26 January).

The EGAPP Working Group has recommended against routine genetic testing for thrombophilia (20 January); conversely, an audit by the UK Royal College of Physicians has found that testing for familial hypercholesterolaemia is often not offered to at-risk relatives as stipulated by clinical guidelines (27 January). The ESHG has issued new recommendations on the use of genetic testing for common disorders that largely mirror those for serious conditions (11 February). New research suggests that consumers may be surprisingly willing to pay for predictive disease testing even in the absence of preventative measures (21 January), and that personal genome testing has little psychological, behavioural or clinical impact (24 January).

Ethical and legal issues

The Hinxton Group has released recommendations for stem cell research aimed at promoting data sharing and minimising legal barriers to medical benefits (30 January), whilst Japanese and US bodies have form a patent pool arrangement for induced pluripotent stem cell technologies (9 February). A UK consultation seeks views on the ethics of aspects of egg and sperm donation, including between relatives (23 January), and debate is ongoing in France over legal restrictions on research involving human embryos or embryonic stem cells (25 January).

Other genetic research

New studies have been published on the genetic basis of sleepwalking (10 February) and the risk of developing Parkinson’s disease (3 February). Clinical trials of a new form of personalised cancer therapeutic – a drug directed against melanomas expressing a specific mutated protein – have shown promising results (29 January).

New reviews and commentaries

Our selection of recent articles of interest (1 February)

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.