1 September 2013
Generating clinically useful genetic information: the importance of linked, high quality phenotypic data.
As the UK releases new quality standards for FH, Dr Philippa Brice is frustrated by current under-diagnosis.
We cast a slightly cynical eye over estimates of genomic market value, examine whether DTC pharmacogenetic tests are a sensible approach, and note the cancellation of the Genomics X prize – a success or a failure?
In a bold approach to the highly contentious concept of full genome sequencing at birth, the US funds pilot studies, and Canada sets out to compare non-invasive prenatal tests, whereas a prominent genomic medicine project falls behind and concerns are raised over new funding arrangements for rare diseases in the UK.
An important new development in regenerative medicine has seen scientists make adult tissue cells revert to a stem-cell like state – and form tumours – whilst trials of gene therapy for heart failure get underway.
Genomics has provided varied new insights, notably into common genetic changes underlying cancer and the genetic complexity that underpins antibiotic resistance in tuberculosis.