February 2009

1 February 2009

This month we are delighted to announce the publication of the final report from our flagship project, Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, whereby the PHG Foundation led a Working Group of expert stakeholders to examine the clinical and scientific status of this rapidly developing technology, to consider associated ethical, legal and social issues, and to make recommendations regarding possible implementation within the UK National Health Service (12 February). A brief and accessible overview of the report is available from our website, along with full report and separate appendix on ethical, legal and social issues. These are valuable reading for anyone working in maternal care, genetic testing and screening, or related policy. Nor is our report the only recent development in these areas:

Genetic testing and screening

A private UK fertility clinic has publicised their use of an array comparative genomic hybridisation (array CGH) technique to screen chromosomes sampled from the polar bodies of IVF embryos (27 January). In the US, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group has issued recommendations on the use of UGTA1A1 genotyping and testing to identify Lynch Syndrome among colorectal cancer patients, and on the use of gene expression profiling tests in breast cancer patients (20 January). In Canada, a task force has released a report on genetic testing services for cancer in the Ontario region (3 February). A new systematic review assesses the evidence for clinical benefits in cystic fibrosis patients identified by newborn screening (9 February), whilst the American College of Medical Genetics (ACMG) recommends carrier screening for spinal muscular atrophy (22 January).  

Legal issues, consultations and policy developments

The UK Department of Health has launched a consultation on draft regulations to implement the Human Fertilisation and Embryology Act 2008 (15 January), and new members of the government advisory body, the Human Genetics Commission have been appointed (30 January). In the US, the legal status of patents claiming human gene sequences continues to be uncertain (5 February), and the National Human Genome Research Institute is seeking feedback on series of papers it has released on the future of human genomics research (10 February).

Disease susceptibility and risk prediction

In recent research news, a putative new susceptibility variant on the X-chromosome has been linked with increased risk of Alzheimer’s disease in women (16 January), and microdeletions in a region on chromosome 15 associated with idiopathic epilepsy (25 January). Work on another complex disease, mutiple sclerosis (MS), has revealed a possible link between key environmental and genetic susceptibility factors, whereby reduced levels of vitamin D during early development may confer an increased susceptibility to MS in later life, via interactions with the HLA-DRB1*15 susceptibility variant (6 February). The limitations of genetic susceptibility testing for clinical management are discussed with reference to a variant common in South Asian populations that may be associated with an increased risk of cardiomyopathy, and work assessing the value of combining genetic and standard measures in calculating cardiovascular disease risk (29 January). Finally, new metabolomics work has identified a novel biomarker that could be used for an improved non-invasive test to distinguish between slow and aggressive forms of prostate cancer (13 February).

Funding and research initiatives

Progress in stem-cell therapeutic research is highlighted along with potential change in funding for such research under the new US administration, and claims that major UK funders have deliberately withheld funding from controversial work involving the creation of hybrid embryos (26 January). New funding for research centres to focus on the ethical, legal and social issues arising from genomic research has been announced (27 January), along with plans for a major US biobank (19 January).

New reviews and commentaries

Our selection of recent articles of interest (2 February)

Other recent news and research

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