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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
Scientists say they decoded genome of Korean man
Researchers find genes that can spot worsening lung fibrosis
Italians sue over stem cells
Researchers find genes that control cholesterol in cells
Genetic clue to brain cancer risk
JAMA studies explore value of cardiovascular biomarkers
Online genetic testing appears to have benefits
Hundreds of genes could be linked to ADHD
Gene discovery points to regulation of calcium metabolism
Australian scientists kill cancer cells with "trojan horse"
In muscle stem cells, age matters: study
Biomarker in urine may lead to test for appendicitis
Huntington's disease deciphered
Gene-based patents promote innovation
Prospects for haemophilia gene therapy
Hope for test to measure ageing
US hospital to collect patients' genomic data
Anti-cancer gene therapy shows promise
See also the Genomics & Health Weekly Update from the CDC Office of Public Health Genomics and the GenInfo Monthly Newsletter from HumGen.
For our events listing, go to http://www.phgfoundation.org/events
Full listing of new additions to our website at: http://www.phgfoundation.org/whats_new.php
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