Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 46 NETS5 | DOI: 10.1530/endoabs.46.NETS5

London.


Genomics England with the consent of participants and the support of the public is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes. 50,000 genomes from cancer, two per patient (tumour and a paired blood sample) and 50,000 from rare disease, three genomes per patient (affected person plus two blood relatives). The main project started sample collection in March 2015, aiming to collect samples by the end of 2017 through its network of 13 Genomic Medicine Centres in England and now extending to include Scotland, Wales and Northern Ireland. It can also link a whole lifetime of medical records to this data, to understand more about the impact of cancer or rare disease. Its four main aims are to create an ethical and transparent programme based on consent; to bring benefit to patients and set up a genomic medicine service for the NHS; to enable scientific discovery and medical insights; and to kick start the development of a UK genomics industry. There are opportunities for individuals with NETs and families with NETs to be recruited within both arms of the programme. Current cancer patients with small bowel and pancreatic NETs are eligible in the cancer programme, with tumour and normal sample collection, to be sequenced in parallel. Patients with NETs-primarily paragangliomas and phaeochromocoytomas, may be eligible in the rare diseases programme under inherited cancers, provided they meet eligibility criteria in the multiple endocrine tumour category. There is also an opportunity to nominate further rare diseases or tumour types for consideration, for more NET patients to benefit from the project.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts