June saw the launch of a new PHG Foundation report; Heart to Heart: Inherited Cardiovascular Conditions Services reviews current provision and future need for patients and families affected by inherited cardiac conditions, and sets out key recommendations for ensuring access to the best services combining expertise in both cardiology and genetics (15 June).

Policy and consultations

The release of the influential report on Genomic Medicine looking at the implications of genomic advances for health care) by the House of Lords Science and Technology Committee has made a major impact in the UK (8 July). The decision to permit significant financial compensation of women who donate eggs solely for research purposes in New York has ignited debate (1 July). Two new consultations have been launched; a UK call for input on the anticipated impact of next-generation sequencing technologies (22 June), and a European Society of Human Genetics (ESHG) consultation on genetic testing for common disorders (16 June).

Genetic testing and screening

Startling new research has suggested a link between mutations associated with the carrier status for the single-gene disorder Gaucher disease and a substantially increased risk of Parkinson’s disease, raising ethical questions over screening programmes (18 June). In the US, the CDC has issued new laboratory guidelines relating to genetic testing for heritable diseases (17 June), whilst preliminary results from a UK trial of genetic testing for human papilloma virus (HPV) strains as part of screening for cervical cancer have failed to demonstrate a benefit (24 June). A new review failed to find any evidence of clinical benefit from genetic testing for mutations associated with increased risk of thrombosis in patients with previous venous thromboembolism or their families (12 July). 

Genetic research

In research news, major new genome-wide association studies (GWAs) have identified genomic regions linked to schizophrenia (6 July), whilst another study disproving a previously published genetic association with depression underlines the importance of independent replication of such research (25 June). The role of copy number variants (CNVs) in cancer susceptibility is raised (30 June) and a new drug targeted against tumours in BRCA mutation carriers shows promise (26 June).

Biomedical databases

A new catalogue of published GWAs has been launched (3 July), and a new database to facilitate more effective comparison of gene expression data (10 July). The European Biobank initiative has announced plans to develop a prototype system to allow researchers widespread access to samples and data (7 July).

New reviews and commentaries

Our selection of recent articles of interest (2 July)

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.