Delivering the benefits of genetics for medicine

In the last month we have released a new report; Genetics in mainstream medicine sets out a new approach for ensuring that genetics is used effectively across different clinical specialities (20 March).

Genetic testing and screening

The Human Genetics Commission has released new recommendations on pre-conception genetic screening (7 April), based on the findings of a small expert working group that included the PHG Foundation.

An exciting UK-wide collaborative research project aims to improve diagnosis and care for developmental disorders with a genetic basis (4 April), and there are prospects for a new non-invasive DNA-based test for transplant organ rejection (31 March). In the US, a state has introduced a new form of screening for SCID (5 April), and a company plans to market telomere testing as a marker for well-being (29 March).

Law and policy

The US Federal Court of Appeals is considering the legality of human gene patenting (10 April), whilst the Court of Justice of the European Communities has ruled against patenting of applications using either totipotent human stem cells, or pluripotent human stem cells derived from embryos on ethical grounds (28 March). The existing UK moratorium on the use of genetic test results by insurers has been extended to 2017(11 April).

Genetics and disease

Recommendations to improve the reporting of genetic risk prediction studies have been released (23 March), and a major international study has identified new genetic variants associated with Alzheimer’s disease risk (13 April). Genetic variants have been newly linked to the risk of the common pregnancy disorder pre-eclampsia in women (26 March) and the capacity for nerve repair following injury in mice (14 April). Stem cells from patients with Parkinson’s disease have been used in attempts to create a model system for studying the condition (17 March).

New reviews and commentaries

Our selection of interesting recent articles (1 April)

Other recent news and research

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