December 2008

1 December 2008

Genomic tools for clinical management

The widening applications of genomics in medicine feature prominently in the news this month. A new study reports on the feasibility of including genotypic data in calculations of the risk of developing diabetes (3 December), whilst the American College of Preventative Medicine is working on a programme to improve clinicians’ understanding of genetic risk estimates (25 November). A new model that uses gene expression data to predict the recurrence risk of colon cancer has been reported (5 December), as has an improved technique that could allow the non-invasive prenatal diagnosis of recessively inherited genetic disorders (9 December). The US Department of Health and Human Services has released its second report on the prospects for personalised medicine based on genomic information (21 November), looking forward to when it may be possible to use such information to tailor preventative and therapeutic interventions to individual patients.

Genetic testing and screening

More established applications of genetic testing have been reported recently with the news that a cascade screening programme for familial hypercholesterolaemia is to begin in Wales (9 December) and the suggestion that comparative genomic hybridisation may be a superior approach for the screening of IVF embryos (14 November). France and Australia have been dealing with issues related to rights and restrictions on personal information from genetic testing (27 November), and the American Society of Medical Genetics has released guidance on direct-to-consumer genetic testing for ancestral research purposes (1 December).

Genetics research

New research using a method for identifying different RNA products produced from a single gene has shown a significant different in the isoforms present in different tissues (21 November); an article reports on progress of the Human Variome Project (19 November).

Legal and regulatory issues

Myriad’s European patent for the BRCA1 gene associated with familial breast and ovarian cancer has been upheld by the EPO in an amended form (26 November), and in the UK attempts to obtain a judicial review of the decision of the regulator to grant licences allowing the creation of human-animal hybrid embryos for research purposes have been rejected by the High Court (11 December).

Selected new reviews and commentaries

Our selection of recent articles of interest (8 December)

Other recent news and research

New Genetic Target For Sickle Cell Disease Therapy Found
Study finds 5 possible genetic markers of prostate cancer
Study links gene to lung maturation of newborn mice
Researchers use DNA chips to enhance prenatal diagnostics
Sports-related genetic test for children stirs concerns
Technique may lead to faster, cheaper genome sequencing
Study: Small sacs from tumor cells carry genetic data
Study finds 5 possible genetic markers of prostate cancer
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
Genetic susceptibility to Alzheimer’s disease
Pfizer to establish stem cell facilities in U.S., U.K.
RNA interference holds promise for cholesterol-lowering drugs
Compound from synthetic DNA holds promise for allergies

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