Frequently asked questions

The Genomics England Clinical Interpretation Partnership (GeCIP) is the way that funders, researchers, trainees and clinicians will collaborate – forming a community of disease-specific and function-specific domains. The aim is to analyse and constantly refine the clinical interpretation of the 100,000 genomes dataset.

GeCIP is the next step for the data after the whole genome sequencing, annotation and integration of existing phenotypic data is completed. GeCIP is about making the best use of the data and getting the most benefit from it once we have it. It is about enhancing the clinical interpretation of the data and deriving new findings from the data.

As new knowledge is generated by (i) the experts who are undertaking research on the 100,000 Genomes dataset or (ii) other researchers worldwide, we will also make sure that if it’s relevant to individuals, the information is fed back to their clinicians who can use it to make decisions about their treatment.

Genomics England has developed this partnership model to ensure that maximum benefit is derived from the dataset.  Through data linkage, this dataset will develop as a rich resource of longitudinal life-course data that is continually augmented and refreshed over time.  This will be a truly unique resource, both with regards to its number of subjects and its breadth of variables (such as, phenotypes, health events and outcomes). Each disease area has a complex research and clinical knowledge base.  By enlisting the contribution of the relevant expert clinicians, healthcare professionals and academics over the timescale of the programme and beyond, we are likely to make greater progress in shorter timescales to bring benefit to patients sooner.

Genomics England can’t do this as well on our own.  The benefits of bringing the best people together to work collaboratively are well known.

In order to be a member of GeCiP, you need to add value to the 100,000 Genomes Project. There are several categories of GeCIP members who may access the 100,000 Genomes Project dataset.  These are explained below, along with some of the basic functions that might be allocated to each category.

GeCIP researchers within a domain                                    
A researcher who is part of a disease-specific or function-specific domain which has been approved via inauguration by the Genomics England Chief Scientist. In the case of a disease-specific domain, the researcher is undertaking research on the data pertaining to that disease.

  • undertake ethically approved research project or equivalent work
  • commit results / findings to Genomics England Knowledge Base
  • gain priority access to the relevant component of the 100,000 Genomes Project dataset via domain-specific embassy. No fee levied for data access.
  • have advantage when applying for strategic initiatives and response-mode funding from GeCIP funders.

GeCIP researchers outside of a domain                             
These are researchers applying to analyse data pertaining to a disease for which they are not part of the relevant GeCIP domain.
These researchers must contribute significant value to the 100,000 Genomes Project dataset or Genomics England Knowledge Base (e.g. samples, data, annotation, tools etc.)

  • undertake ethically approved research project or equivalent work
  • commit results / findings to Genomics England Knowledge Base
  • gain delayed access to relevant component of the 100,000 Genomes Project dataset following successful application for data access.  The data release will be subject to a six month delay. No fee levied for data access.
  • these researchers may or may not be members of other GeCIP domains.

GeCIP clinicians/healthcare professionals within a domain
A clinician who is part of a disease-specific or function-specific domain which has been approved via inauguration by the Genomics England Chief Scientist.

  • informs and drives collection of clinical, phenotypic and laboratory data and samples to the 100,000 Genomes Project dataset.  This may include collection of enhanced data fields, additional biosamples and familial samples.
  • contributes to the interpretation, validation and feedback domain
  • gain priority access to the relevant component of the 100,000 Genomes Project dataset via domain-specific embassy. No fee levied for data access.
  • commits results / findings to Genomics England Knowledge Base

GeCIP clinicians/healthcare professionals outside of a domain
A clinician/healthcare professional at a Genomics Medicine centre who recruits patients, collects samples and data for the 100,000 Genomes Project.

  • granted access to 100,000 Genomes Project dataset relating to patients under their care via the access provided to their Genomics Medicine Centre
  • delivers updated clinical, phenotypic and laboratory data on their patients to 100,000 Genomes Project dataset

There will also be potential to access the 100,000 Genomes Project dataset for researchers and commercial users who are outside of GeCIP and therefore not GeCIP members.

100,000 Genomes Project researchers outside of GeCIP

  • do not contribute value to the 100,000 Genomes Project dataset or Genomics England Knowledge Base
  • undertake ethically approved research project or equivalent work
  • commit results / findings to Genomics England Knowledge Base
  • gain delayed access to relevant component of the 100,000 Genomes Project dataset following successful application for data access.  The data release will be subject to a six month delay. Fee levied for data access.

Yes, clinicians of patients who take part in the 100,000 Genomes Project are automatically eligible to be part of GeCIP through their institutions and they will be able to access the dataset on their patients for direct patient care or for ethically approved research.  They need not be part of the respective disease-specific domain to access these data.

There is no central funding in GeCIP so under all circumstances you will need to show you have the resources or clear plans for obtaining the resources to do the work you intend to carry out.

Researchers wanting to undertake research through GeCIP will either apply to a funding body through response mode or specific funding calls that are targeted at using the 100,000 Genomes Project dataset.  This applies to researchers within or outside of domains.

See also About GeCIP funders and funding

100,000 Genomes Project dataset: this is the patient-level dataset generated via the integration of the whole genome data, the phenotypic data,  other sample/patient level administrative metadata with evolving linked data to other resources such as HES, ONS and registry data.

The Genomics England Knowledge Base: this is the growing sum of knowledge we will accrue around the links between phenotype, disease, genes and variants.  This will be generated via expert input regarding what is already known from the existing research base along with emerging data generated from findings and research using the 100,000 Genomes Project Dataset

The Genomics England data centre: this is a secure facility located within the NHS firewall in which the genomic and other data relating to the patient are stored.  Access to the Genomics England data centre will be via domain-specific embassies or Genomics Medicine Centres.  There are clearly defined policies regarding data access and data sharing (see Appendix 1). Data does not leave the Genomics England data centre: it is analysed through access into the data centre.  The types of data and the subsection of data that can be viewed and analysed is dependent on the access to which that GeCIP member is eligible.

The Genomics England computing infrastructure: This is the system of computing hardware and software with which we store, process and enable access to the 100,000 Genomes Project Dataset and the Genomics England Knowledge Base.

Domains will have specific ‘embassies’ within the Genomics England data centre, which comprise of the sub-section of the data related to that domain and components of the Genomics England computing infrastructure relevant to analysis of the data. These embassies are intended to be seen as areas in which healthcare professionals, researchers, trainees and pre-competitive industry partners undertake their work. Work undertaken within the embassies is subject to the governance and terms and conditions of Genomics England.

Couldn’t find the answer?

If you can’t find what you are looking for here, please get in touch with us via the contact page.

Ask a question

Share thisShare on FacebookShare on Google+Tweet about this on TwitterShare on LinkedInEmail this to someone