June 2014

26 June 2014

Director’s Blog

This month Director Dr Hilary Burton wonders why policy-makers acknowledge the vital need for multidisciplinary input – but aren’t prepared to fund it.
Knowledge brokerage and policy-making: bypassing the Catch-22

Opinion of the month

PHG Foundation Chairman Dr Ron Zimmern uses an unusual analogy to set out the fundamental differences between classic clinical genetics and the potential new medical genomics being developed by Genomics England.
Whole Genome Sequencing: Savile Row or Marks & Spencer?

Genomic and personalised medicine

As the new Chief Executive of NHS England calls for the UK to be a world leader in personalised medicine, both NSW in Australia and Qatar announce major new investmentsto integrate genomics with health systems.
NHS should lead world in genomics & personalised medicine
Australian funding underpins genomic and personalised medicine
Qatar moves towards genomic and personalised medicine

Regulatory and policy issues

In the UK, experts have called for further tests of safety but expressed confidence in prompt legalisation of mitochondrial transfer, whilst in the US personal genomic testing provider 23andMe have made the first moves towards compliance with FDA requirements to resume trading, and a report claims that new regulatory powers are needed for synthetic biology. Various national and international groups have been concerned with genomic cancer databases.
23andMe engages with the FDA on health-related genetic tests
Balancing public access and security for genomic cancer data
Regulatory challenges posed by synthetic biology
Three-person IVF possible within two years in the UK

Genetic testing and screening

Dr Philippa Brice wonders whether new funding to boost cascade screening for familial hypercholesteroalemia could have negative impacts; charity UNIQUE underlines the rapidly increasing diagnostic rates for rare chromosomal disorders, and the Chinese authorities have taken new steps to expand newborn screening to rural populations.
Inequities may widen for inherited cardiovascular disease
Sharp rise in rare chromosomal disorders diagnosis rate
China moves to expand newborn screening

Genomic research and clinical interpretation

Attempts to address the practical difficulties of interrogating and interpreting genomic big data via bioinformatics are the basis for significant new projects centred on autism, cancer and clinical genomic research.
Google Genomics supports major autism project
French consortium launch cancer exome interpretation project
New pan-Canadian Genomics Innovation Network

Other news

The first databases detailing the human proteome are hailed as a valuable new biomedical resource, whilst there is (more) bad news for BRCA2 mutation carriers as their lung cancer joins the list of cancers for which they are at increased risk. Finally, in an unusual departure, we look at the public health implications of the banana genome.
First the genome, now the human proteome
BRCA2 gene mutations linked to lung cancer risk in smokers
Improving global health via genetic modification of bananas