The Genomics in Health Implementation Forum (GHIF) aims to support more accurate data interpretation, diagnosis, and innovative solutions across healthcare through global cooperation in data sharing and clinical implementation of genomics. The forum helps initiatives reduce both duplication of efforts and promote the collection of compatible clinical genomic data and health information to enable global data sharing.
GHIF is primarily focused on supporting uptake of GA4GH standards at global genomics initiatives and providing real-world insights to the GA4GH Work Streams as they develop new standards to support data sharing. The group also enables collective learning by sharing best practices, challenges, and opportunities with a technical, regulatory, clinical, or educational focus.
The GHIF’s three key areas of work are to:
- Identify areas of collaboration and resource/expertise sharing
- Develop pilot projects for global data sharing using large scale cohorts
- Identify common needs for standards across initiatives
2021 Virtual Working Meeting - March 9 & 10, 2021
Meeting materials
https://broadinstitute.swoogo.com/ghif2021-working/meeting-materials
Hi all,
We won't be meeting in March, but instead will arrange a meeting to coincide with the April 2021 Business meeting, along with the other CRGs and project groups. We will post the meeting notification and agenda closer to the time, when we have scheduled the meeting times for all groups.
Kind regards
Ian Green
Dear all,
We are hosting a meeting of the Genomics and Precision Medicine CRG Meeting on the 10th February 2021 at 20:00 UTC.
2021-02-10 - Genomics and Precision Medicine CRG Meeting
The focus of the meeting will be to further discuss and develop the discussion paper on the use of SNOMED CT to support precision medicine. The meeting will also report on some of the content work underway within the SNOMED community to support the recording of Genomics information within the EHR
We look forward to joining the call and receiving your comments,
Regards,
Ian Green
Dear all,
We are hosting a meeting of the Genomics and Precision Medicine CRG Meeting on the 13th January 2021 at 20:00 UTC.
2021-01-13 - Genomics and Precision Medicine CRG Meeting
The focus of the meeting will be to start the discussion on how SNOMED CT can best support the future implementation of Precision Medicine. SNOMED International is looking to develop a high level descriptive document that will inform the community on the use of SNOMED CT to meet this use case. The meeting will provide background detail, and then will look to the audience to participate in discussion.
We look forward to receiving your comments and thoughts,
Regards,
Ian Green
Dear all,
We are hosting a meeting of the Genomics and Precision Medicine CRG Meeting on the 2nd December 2020 at 17:00 UTC.
The focus of the meeting will be to start the discussion on how SNOMED CT can best support the future implementation of Precision Medicine. SNOMED International is looking to develop a high level descriptive document that will inform the community on the use of SNOMED CT to meet this use case. The meeting will provide background detail, and then will look to the audience to participate in discussion.
We look forward to receiving your comments and thoughts,
Regards,
Ian Green
In this special report, seven experts in personalized medicine – from Accenture, CereCore, Chilmark Research, Deloitte and Orion Health – offer best practices for optimizing technology to help health systems advance innovation.
SUMMARY
The healthcare provider organization is a crucial participant in a fast-evolving ecosystem around precision medicine, which includes pharma and biotech companies, medical device manufacturers, national research organizations, academic medical centers, patient advocacy groups, and others.
According to the Precision Medicine Initiative, precision medicine is “an approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyles.”
Precision medicine and personalized medicine often are used interchangeably, but have slightly different connotations – with the former focused more on the clinical realm of genomics and the latter taking a more expansive view of social and behavioral health.
Both hold huge potential for better health outcomes – but also require complex and challenging technology deployments, changes to clinical workflow, and education for physicians and patients alike.
“It is important that the provider CIO help to lead their organization into this new world by considering how existing technologies can be optimized and how new, disruptive technologies can be anticipated over multiple years of capital budget investments,” said Dan Kinsella, managing director, healthcare and life science, at consulting giant Deloitte.
“Of paramount importance to the typical provider CIO is how to operationalize precision medicine at the point of care. There is not a one-size-fits-all solution for healthcare providers, but there are leading practices to consider whether you are an academic medical center, an integrated delivery network or a community hospital.”
In this special report, seven precision medicine technology experts – from Accenture, CereCore, Chilmark Research, Deloitte and Orion Health – offer healthcare provider organization CIOs and other health IT leaders best practices for optimizing this technology.
ELIXIR and the Global Alliance for Genomics and Health (GA4GH) have announced a Strategic Partnership that will provide technical standards and regulatory frameworks to facilitate responsible sharing of genomic data across national borders. The effort will enable the creation of a secure infrastructure to store, access, and analyse genomic and sensitive health data from tens of millions of participants across and beyond Europe.
"Genomic Session - developing for the future" at the SNOMED International Business Meeting in London
April Business Meeting, Thursday, 11th, April 2019
Time: 9:00 - 16:30
Waldorf Astoria, The Strand, London
"Genomics is developing globally at a very fast rate, and globally there are developments to support the delivery Genomics into mainstream clinical care. SNOMED CT is in a position to enable these developments by the provision of enhanced content coverage in the EHR to support both the recording of phenotypic data (essential for Genomics research) and the utility to support interoperability between the clinical EHR and Genomics researchers. The session aims to bring together implementation examples of how SNOMED CT is currently being used to support Genomics and the development of Precision Medicine. Specifically, there will also be a focus on SNOMED CT’s ability to support data analytics both in the Genomics arena and more generally across clinical practice”.
Link to the agenda (and presentations will be available here after the meeting:
Genomics Session - Developing for the future. 11th, April 2019
NHS England, through its role in the direct commissioning of specialised services, is ideally placed to improve the care of patients who have rare diseases.
This is the Implementation Plan setting out NHS England’s delivery contribution tothe UK Strategy for Rare Diseases.
The Plan sets out NHS England’s proposed actions against all of the commitments in the Strategy for which it has a lead responsibility. In particular, the Plan aims to address the following three objectives
- Facilitating earlier diagnosis and intervention
- Improving care coordination
- Promoting research.
Of particular note are the following key actions:
The continuing progress of the 100,000 Genomes Project and the concurrent development of a genomic testing strategy that will underpin the development of a new genomic medicine services for the NHS
The development of a set of criteria that will allow NHS England to hold providers to account for the way in which they treat patients with rare diseasesvia a rare disease ‘insert’ to the standard NHS Contract
- The development of Rare Disease Collaborative Networks. These will be groups of providers who have a demonstrable research-active interest in a rare/very rare disease, with the aim of improving patient outcomes
STU3 moves beyond FHIR DSTU2 Standard Genetics profile on Observation allowing increased granularity and less ambiguity by creating a new resource to be called Sequence. This resource will be used to hold clinically relevant sequence data in a manner that is both efficient and versatile integrating new and as yet undefined types of genomic and other -omics data that will soon be commonly entered into health records for clinical use. Sequence will be leveraged by other FHIR resources, including Observation. This is consistent with how all FHIR resources are designed and used.
The September 2014 Informative Ballot (“HL7 Clinical Genomics, Domain Analysis Model: Clinical Sequencing Release 1”) provided guiding use cases, which initially informed development of the initial Standard Genetics profile that is found in FHIR DSTU2. The same use cases also led to a second Project to develop a Sequence resource (“Develop FHIR sequence resource for Clinical Genomics”).
The FHIR guidance documentation continues to develop, but the latest version is available here:
The rise of genomically targeted therapies and immunotherapy has revolutionized the practice of oncology in the last 10–15 years. At the same time, new technologies and the electronic health record (EHR) in particular have permeated the oncology clinic. Initially designed as billing and clinical documentation systems, EHR systems have not anticipated the complexity and variety of genomic information that needs to be reviewed, interpreted, and acted upon on a daily basis. Improved integration of cancer genomic data with EHR systems will help guide clinician decision making, support secondary uses, and ultimately improve patient care within oncology clinics. Some of the key factors relating to the challenge of integrating cancer genomic data into EHRs include: the bioinformatics pipelines that translate raw genomic data into meaningful, actionable results; the role of human curation in the interpretation of variant calls; and the need for consistent standards with regard to genomic and clinical data. Several emerging paradigms for integration are discussed in this review, including: non-standardized efforts between individual institutions and genomic testing laboratories; “middleware” products that portray genomic information, albeit outside of the clinical workflow; and application programming interfaces that have the potential to work within clinical workflow. The critical need for clinical-genomic knowledge bases, which can be independent or integrated into the aforementioned solutions, is also discussed.
- Jeremy L. Warner
- Sandeep K. Jain and
- Mia A. Levy
Genome Medicine20168:113
https://doi.org/10.1186/s13073-016-0371-3 © The Author(s). 2016
Published: 26 October 2016
Genomics England is allowing more than 500 researchers to access the 100,000 Genomes Project dataset to support scientific discovery after announcing that Professor John Mattick will become its first CEO. He will move on from his role at the Garvan Institute of Medical Research in Australia, now seen as one of the most renowned genomic centres in the world. |
