Genomics in health systems

The PHG Foundation recommendations on clinical implementation of genome sequencing, Next steps in the sequence, generated widespread media attention. The need for different public health and translational approaches, data systems and professional education have also been highlighted.

Prenatal genetic testing

In a very busy month for non-invasive prenatal diagnosis, Sequenom have finally published their clinical trial results and launched the first commercial test for Down’s syndrome; another proof-of-concept report details identification of a much smaller chromosomal abnormality.

Genomic research initiatives

The Archon-X prize for Genomics has been in the news with revised rules and a new focus on the genomes of people over 105; Google Earth has joined forces with genomics in an effort to track typhoid outbreaks, and there are major new projects in epilepsy and autism genomics.

Ethical, legal and social issues

A new PHG Foundation report lays the groundwork for a new philosophy of epidemiology. Key European legal rulings have been made supporting gene patents but opposing human embryonic stem cell patents, whilst concerns and plans over financial reimbursement for women who donate eggs for reproductive or research purposes have made headlines.

Genetics and disease

Alterations in genomes during childhood and in the brain have been highlighted by research, as well as new data on genetic risk of cancers, genetic therapy for eye disorders, and genetic insights that could help tackle dengue fever.

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