MEETING REPORT

“Genomic Education and Training for Healthcare”; sponsored by the ‘Global Consortium for Genomic Education (GC4GE)’, The Genomic Medicine Foundation, UK (www.genomicmedicine.org ); Convener: Professor Dhavendra Kumar; CEO & Medical Director- The Genomic Medicine Foundation (UK).

This workshop was held on 24^th April 2019, at the Human Genome Meeting 2019, Seoul, South Korea. Aims and objectives included-

• Essential skills and competencies for delivering the effective genomic medicine & healthcare
• Core curriculum for genomic education & training
• Organization and quality outcomes of genomic education & training program
• Genomic education and training in developing and less developed nations
• Role of public and media in genetic and genomic education
• Continuous genetic and genomic education through tertiary multi-disciplinary specialist genetic & genomic clinics (oncology, cardiovascular, neurology, psychiatry, fetal/neonatal etc.)

The faculty included- Prof. Dhavendra Kumar, Cardiff, UK (kumard1@cf.ac.uk); Prof. Mark Caulfield, QMUL, London, UK (m.j.caulfield@qmul.ac.uk ); Dr. Heather Colley, NHGRI, Bethesda, MD, USA (junkinsh@mail.nih.gov); Prof Eva Maria Cutiongco-de la Paz, MD, Executive Director, National Institutes of Health, University of the Philippines Manila (eccutiongcodelapaz@up.edu.ph); Dr. Mercy Laurino, Manila, Philippines; (mylaurino@post.upm.edu.ph ), Seattle Cancer Care Alliance, Genetics & Prevention Programs, President, Professional Society of Genetic Counselors in Asia; Dr. Annie Hasan, Director, Board of Genetic Counselling, India (qhasan2000@yahoo.com); Professor Ming Qi, Chinese Academy of Sciences, Beijing, Rep. of China (Ming_Qi@URMC.Rochester.edu)

 
The workshop was very successful and feedback from Prof. Charles Lee, The President of HUGO has been positive and encouraging. It is likely that this workshop could be included on the program of the next Human Genome Meeting held in Perth Australia (5-8 April 2020). In the meanwhile the Faculty agreed to expand membership of the global genomic education interest group to represent scientific, medical, nursing, healthcare, media and public communities. Regular online updates on GC4GE are available (www.genomicmedicine.org).

There is continued interest around on the new project: Global Familial Heart Challenge. However, the progress has been slow, largely due to lack of funding. An informal meeting of current and prospective members of GFHC is planned at the 7^th International Cardiovascular Genomic Medicine Conference held in York, England from 4-5 December 2019. Leading members of the Indian team are joining. They have secured funding for systemic collection of phenotype data on familial and inherited cardiovascular diseases. The genotype information would also be included as it became available. The group will discuss different aspects of GFHC and explore funding options. The British Heart Foundation has launched a new funding stream related to health innovation, initially focused on heart failure.

The BRCA Exchange team recently received a rare perfect score on a grant proposal to the U.S. National Cancer Institute.  Under the proposed work, BRCA Exchange will launch a federated data analysis program to "bring the code to the data".  This will enable the secure analysis of protected, patient-level data within its home environment, generating variant-level summary statistics that can be shared more openly without divulging patient privacy.  Programs including Genomics England and the U.S.-based All Of Us initiative are developing cloud interfaces to support federated data analysis.  We look forward to exploring this new avenue for data sharing, with hopes that it will foster a secure flow of information to benefit researchers worldwide..
 

Ethics Checklist for Database Curators and Submitters

These guidelines have now been published on the HVP website. 

Click here to view the paper

We encourage all memebers to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming national meetings and local workshops

HGVS: Copy Number Variation - data collection & analysis

14th June 2019

Gothenburg, Sweden

events.hgvs.org

A scientific meeting of the Human Genome Variation Society

Satellite meeting to the European Society of Human Genetics' annual meeting.

Going to ESHG?  You may wish to attend the HGVS meeting. Register before 15th April to receive the earlybird discount.

Copy Number Variations or CNV are major causative contributors in the genesis of rare and common genetic diseases as well as human tumors. Despite their importance, their detection, collection, annotation and interpretation are still in their youth and much remains to be done. With the developments of the Next-Generation Sequencing technologies, especially Whole Genome Sequencing, which is increasingly becoming the primary choice for genomic screening analysis, new algorithms to efficiently detect all CNV types ranging from single exon to large genomic regions, and from germline to somatic events, are needed.

The aim of this Human Genome Variation Society meeting is to provide an overview of the most recent advances on this topic at the international level and to address more specifically;

•       CNV detection pipelines

•       availability of reference datasets

•       data collection and sharing in FAIR environments, including specifications related to data formats and annotations required for efficient data interpretation; and

•       specific tools for CNV interpretation.

•       To speed-up international collaboration, a new Human Copy Number Variations Community (h-CNV) was created within ELIXIR. It will work in close interaction with the Global Alliance for Genomic and Health (GA4GH), the European Joint Project for Rare Diseases (EJP-RD) and other international initiatives.

Scientific Program Committee

Johan T. den Dunnen (LUMC, Leiden, Netherlands)

Christophe Béroud, (Marseille, France)

Find out all the details including the program on the website:

events.hgvs.org

Global Globin 2020 Challenge (GG2020) Conference 2019

The third Global Globin 2020 Challenge (GG2020) Conference 2019 will be held at the UNESCO Headquarter, Paris from 28-30 October 2019. The theme for this year’s conference is "Enhancing Partnership in Genomic Capacity Towards Equitable Healthcare". Kindly save the date and please help to promote and disseminate the info to your contacts.  For further information about the conference, please contact myhvp@usm.my or gg2020conference@gmail.com. More information about the conference can be obtained at http://hvpmalaysia.kk.usm.my/gg2020/index.html.

http://isv.variome.org/