Genetic sequencing and policy

The European Society of Human Genetics has issued official recommendations about the genetic testing of minors (2 June), whilst the European Parliament has moved to adopt a strategic approach to rare diseases, many of which are forms of genetic disorder (26 May). In the United States, the National Human Genome Research Institute has made strategic recommendations on its continued involvement in human genome sequencing (8 June), whilst the company Knome has become the first to offer a full-genome sequencing service directly to consumers at a substantially lower price than previous services (19 May).

Genomics and public health

New research considers whether genetic testing for the risk of prostate cancer is ready for prime-time (27 May), and a new information portal to allow health professionals and members of the public to access reliable clinical and public health evidence, NHS Evidence, has been launched in the UK (21 May). A new PHG Foundation report looks at carrier screening for Tay Sachs disease in Ashkenazi Jewish sub-populations (19 May).

Legal and regulatory issues

Umbilical cord blood banking as a source of stem cells for potential therapeutic applications continues to generate controversy, this time in Ireland where the possibility of legal challenges from patients has been raised (9 June). In the US, a legal challenge to patents held by Myriad Genetics relating to the BRCA1/2 genes could have implications for all gene patents (28 May).

Disease genetics

A research paper proposes a possible genetic basis for the observed reduced risk of certain forms of cancer in individuals with Down’s syndrome (25 May), and two more report genome wide association studies linking specific genes with the risk of testicular cancer in white men (4 June). We also report on a paper considering the risk of myocardial infarction conferred by raised levels of lipoprotein a and LPA gene variants (11June).

New reviews and commentaries

Our selection of recent articles of interest (1 June)

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.