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Consortium Update - October 2017
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Check the following link to read the first major article outlining HVP’s project-wide initiative GG2020 that focusses on haemoglobinopathies as an entry point into genomic medicine, particularly for low-resources settings. It also raises the important issue of insuring that results diverse populations are systematically included in variant databases.



ClinGen has launched a list of Clinical Laboratories Meeting Minimum Requirements for Data Sharing to Support Quality Assurance
Accompanying paper attached and media stories below:
1.            Genome Web – July 17, 2017 - ClinGen Lists Labs Meeting Requirements for Quality Data Sharing on Genetic Variants
2.    Diagnostics World – July 17, 2017
Heidi Rehm Calls For Sharing of Variant Interpretation Data
3.    Genetics in Medicine GenePod – July 17, 2017
PodCast: Making sense of a deluge of variants: harnessing the power of community

Collecting genetic variant information in a single large database

A newly published paper in Genetics in Medicine from  colleagues based at Mt Sinai in Canada has reinforced the fundamental importance of collecting information about genetic variances in a single large database.  With so much important genetic information being used globally to understand the underlying genetic influences of diseases, researchers and clinicians need an accessible repository to share this information. This highlights activities related to the Canadian Node.

Click for more information….


From Human Mutation this important article addresses the role of the curator and the necessary curation processes required for clinical responses using the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) and the issue of their interpretation being hampered by the lack of available data and resources, making patient care and genetic counselling very challenging. In response to this issue, INSERM  developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years of experience of CFTR testing, CFTR-France currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), foetuses with ultrasound bowel
anomalies, newborns awaiting clinical diagnosis, and asymptomatic compound heterozygotes

For each of the 736 different variants reported in the database, patient characteristics and genetic information (other variations in cis or in trans) have been thoroughly checked by a dedicated curator.

Combining updated clinical, epidemiological, in silico, or in vitro functional data helps to the interpretation of unclassified and the reassessment of misclassified variants. The article explains the value of this comprehensive CFTR database as a tool for diagnostic laboratories gathering information on rare variants, especially in the context of genetic counselling, prenatal and preimplantation genetic diagnosis. Importantly CFTR-France is thus highly complementary to the international database CFTR2 focused so far on the most common CF-causing alleles. This harmonising between the national approach and the international one is important for many other HVP members. Any questions or comments should be directed to Mireille Claustres


New Director-General of WHO appoints new senior team

Dr Tedros Adhanom Ghebreyesus of Ethiopia was elected as WHO Director-General for a five-year term by WHO Member States at the Seventieth World Health Assembly in May 2017. He took office on 1 July 2017 and more about his background can be found here –

In early October he announced his new senior team to be based at HQ in Geneva and it predicts a few likely changes to the way WHO will work in the future. The new team includes individuals drawn from clinical practice, health bureaucracy, politics and public health roles.  They also have a wide geographic spread, coming from India, UK, Italy, Russia, Brazil, South Africa, Saudi Arabia among other countries.  Further information on each of the fourteen key appointments can be found in the profiles in this link


Of course, if you know of any of these people – now is the time to congratulate them and talk to them about medical genomics and HVP! We are still waiting to hear exactly how HVP’s MOU with WHO may be affected by these new appointments.


Upcoming Meetings

ASHG – 17–21 October 2017, Orlando USA
HVP: 2nd Variant Effect Prediction Training Course – 6–8 November 2017, Prague
A-PCHG – 8–10 November 2017, Bangkok Thailand
African Society of Human Genetics – 7-10 November Cairo, Egypt
World Science Forum – 7–10 November Amman Jordan
TIF – 17-19 November - Thessaloniki, Greece.
HUGO & HVP meeting 13–15 March 2018, Yokohama Japan