April 2014

1 April 2014

Top story this month

Lasting impact is expected from the PHG Foundation health needs assessment toolkit for birth defects, which has been formally handed over to a Brazilian national centre of excellence in genetics and congenital disorders.

Opinion: Stronger guidance is needed on return of genomic research findings

Experts in law and ethics examine and broadly approve the new MRC and Wellcome Trust proposed framework on the feedback of health-related findings from research, but find room for improvement for genomic research.

Genetic screening

Screening features prominently in this month’s news with the PHG Foundation calling for action to expand the current scope of newborn screening and underpin the evidence-based application of genomics in other screening programmes – such as for breast cancer.


The American College of Medical Genetics has relaxed its earlier stance on making screening for selected severe genetic conditions mandatory for clinical whole genome sequencing subjects whilst the European Society for Human Genetics

Genomic medicine

This month the UK has devoted more money to innovations in genomics and bioinformatics, whilst in the US geneticists outline progress in medical exome sequencing and a patent is granted for the CRISPR genome-editing system. Researchers also identify a genetic link between cancer risk and viral resistance.

Stem cells and synthetic biology

An exciting month for regenerative medicine has seen some important milestones including delivering new human tissues and rejuvenating mouse tissues, and the UK is to fund new centres for DNA synthesis to support synthetic biology.

External news and opinion