April 2013

1 April 2013

Top stories this month

The American College of Medical Genetics (ACMG) has issued new recommendations that patients undergoing clinical genome sequencing should be told of some incidental findings unrelated to the condition for which the test was initiated. PHG Foundation’s Director Hilary Burton and Chairman Ron Zimmern respond with a strongly critical commentary.

PHG Foundation publications

In a Nature Genetics special issue devoted to the international COGS project, in which the PHG Foundation is leading a strand examining implementation of genetic data in cancer screening, we publish our commentary ‘Public health implications from COGS and potential for risk stratification and screening’. We also publish a new report recommending how incidental findings from the UK’s 100,000 Genomes Project should be managed.

Opinion: ACMG guidelines on non-invasive prenatal diagnostic techniques

PHG Foundation’s Dr Philippa Brice examines the key points and implications of a new ACMG policy statement on the use of non-invasive DNA-based techniques for prenatal diagnosis.

Legislation, regulation and policy

In the UK the HFEA agrees advice for ministers on the use of donor mitochondrial DNA following its recent consultation, whilst the new NHS organisational structure that came into force at the beginning of this month has raised concerns about service fragmentation, privatisation, and confused accountability. In the US the Supreme Court has heard oral arguments on the validity of human gene patents and will now consider its decision.


The publication of the HeLa genome sequence online and its subsequent removal has provoked much controversy and discussion over genomic consent, how much personal and medical information can be deduced from a published sequence, and potential impact on family members.

Genes, disease and medicine

A smartphone app aims to employ human pattern recognition abilities to identify new cancer mutations, UK Biobank announces a deal with US company Affymetrix to genotype its 500,000 participants, a multi-gene test to determine the best treatment option for cancer patients is trialled on the NHS for the first time, a large-scale study links BRCA2 gene mutations to more aggressive prostate cancer, and two major studies find new genetic links to both childhood and adult obesity.

New reviews and commentaries

Other news