New features on the PHG Foundation website in recent weeks are a facility for press releases and a blog aiming to give a broader picture of our work; our interactive tutorials on aspects of genetic testing and genomics are now available via YouTube, as well as from our website.

Genetic testing and screening

In August, the European Society of Human Genetics (ESHG) issued guidance on genetic testing in minors and sought input from the genetics community on this issue (8 August), while the UK National Institute for Clinical Excellence and Health (NICE) recommended cascade screening for familial hypercholesterolaemia (3 September). Two centres in the US have announced plans to screen all newborns for Fragile X Syndrome for the next five years (19 September), and a new publication in the Centers for Disease Control’s Mortality and Morbidity Weekly Report discusses the potential impact of the expanded newborn screening panel recommended in the US from 2005 (29 September). New research in the US has brought the prospect of non-invasive prenatal diagnosis of Down Syndrome and other aneuplodies close and generated much media attention (7 October).

Genetics and disease

Drug trials of a new treatment for cystic fibrosis have shown promise in alleviating symptoms (10 September), and research has suggested that aggressive breast cancers in younger women may be genetically distinct from other forms of the disease (2 September). Genetic epidemiological research has suggested a possible link between obesity and cancer risk via the adiponectin pathway (4 October), and a novel approach to identifying an individual’s DNA has led to new restrictions on access to genome-wide association study data, for fear of breaching confidentiality (18 September).

Cloning and stem cells

The US National Academies have released amended guidelines for research involving human stem cells (12 September), and the Australian government has granted the first licences for cloning of human embryos for the production of stem cell lines (22 September). A new publication reported the production of induced pluripotent stem cells from patients with a selection of single-gene, complex and chromosomal diseases (5 September), and in the UK a new public blood bank and research centre opened, the Anthony Nolan Stem Cell Therapy Centre (15 September).

Health ethics and strategy

The UK government has set out challenges and targets in a new strategy for improving global health, with proposed measures including policy development and knowledge-sharing (6 October), and funding for research into ethical, legal and social implications of the Human Microbiome Project has been announced (25 September).

Selected new reviews and commentaries

Our selection of recent articles of interest (9 October)

Other recent news and research

See also the Genomics & Health Weekly Update from the CDC Office of Public Health Genomics.