Following the first meeting of the International Confederation of Countries Advisory Council meeting in Beijing last year, it has become evident that the concept of HVP Country Nodes has evolved from their initial definition as repositories of genetic variation information in single countries. There appears to be a desire amongst Human Variome Project Consortium members that HVP Country Nodes should be seen as a nucleus for activities relating to human genetics within a country. With this view in mind, the Human Variome Project International Coordinating Office has prepared a new model for HVP Country Nodes. This model was presented (see http://www.slideshare.net/variomeproj/a-suggested-model-for-hvp-country-nodes) at the 4th Biennial Meeting of the Human Variome Project Consortium to initiate discussion and debate during this panel session. It is a “straw man” model, meant to be knocked down, dissected and discussed, in the hopes of building a better, more representative model.

1. Just presented
A Suggested Model for HVP
Country Nodes
Helen Robinson and Timothy Smith

2. HVP Country and Regional Nodes
Towards a Definition
Operational Management
Strategic Management
Normative Management

3. Panel
• Najib Al Khaja, Centre for Arab Genomic
Studies, United Arab Emirates
• Zilfalil Al Alwi, Malaysia
• Andreas Hadjisavvas, The Cyprus Institiute of
Neurology and Genetics, Cyprus
• Ming Qi, Centre for Genetic and Genomic
Medicine; Zhejiang University School of
Medicine, China
• Raj Ramesar, Div of Human Genetics, U of Cape
Town, South Africa
Diversity is strength

4. Modified Panel
• Zilfalil Al Alwi Malaysia
• Andreas Hadjisavvas Cyprus
• Ming Qi China
• Raj Ramesar South Africa

5. Format
• Brief presentations will encompass their own environment
re the development of a node in each of these diverse
settings
• Followed by an interactive phase with the following
objective:
To discuss and debate the model presented
• Is the model required?
• Should it look like the one presented?
• What does the presented model lack?

6. Getting Current Putting Moving Fully
Ready status? pieces forward Functional
together
Data
collection
and sharing
Key
Resources
ELSI
Nature of
Genetic
Services
Public
Education

7. Getting Current Putting Moving Fully
Ready status? pieces forward Functional
together
Data
collection
and sharing
Key
Resources
ELSI
Nature of
Genetic
Services
Public
Education

8. Getting Current Putting Moving Fully
Ready status? pieces forward Functional
together
Data
collection
and sharing
Key
Resources
ELSI
Nature of
Genetic
Services
Public
Education

9. Getting Current Putting Moving Fully
Ready status? pieces forward Functional
together
Data
collection
and sharing
Key
Resources
ELSI
Nature of
Genetic
Services
Public
Education

10. South Africa
• Historically, genetic testing arbitrarily located
in the environment of the 4-5 academic
genetic or related departments (Medical
Genetics, Chemical Pathology: Inborn Errors of
Metabolism) around the country
• Federally regularised through the Dept of
Health (catalog of genetic tests available)

11. Currently
• A range of genetic tests (on the Dept of
National Health website

12. All lab based testing through a single National Health Laboratory Service (NHLS, •Laboratories
independent of the academics/health care providers)
Custodians of Genetic test results (as are referring
About
UsWho Are
We?
Who's Who
In The
NHLS
Divisions
Laboratorie
s
clinicians)
Regions
Contact Us
Vacancies
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Locate A
Laboratory
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The
following
laboratorie
s are
available in
the
Western
Cape
province.
Click here
to view all
laboratorie
s in the
Coastal
region.
De Aar
Manager: Mrs. Igme Igme Strauss
Telephone: 0536310669
(
E-mail: igme.sauss@nhls.ac.za
Best placed for providing info for databases (not necessirily interested in maintaining
Address: Visser Street
De Aar
De Aar
Western Cape
Show Lab on Map
George
Manager: Mrs. Sheena Stoneley
Telephone: 0448742022
Cellular: 0829073347
E-mail: sheena.stoneley@nhls.ac.za
Address: Davidson Road
database) Some ‘b
George
George
Western Cape
Show Lab on Map
George
Manager: Mrs. Helena Pienaar Koen
Telephone: 0448742022
E-mail: helena.koen@nhls.ac.za
Address: Davidson Road
George
George
Western Cape
Show Lab on Map
GF Jooste
Manager: Mr. Anthony Henry Williams
Telephone: 0216922633
E-mail: anthony.williams@nhls.ac.za
Address: Room F2
Duinefontein Road
Manenberg
Western Cape
Show Lab on Map
GPC - Chemical Pathology
Some ‘boutique’ tests coming out of individual research labs (idea is to get them into
Manager: Mrs. Sophia Catharina Lloyd
Telephone: 0214179328
E-mail: sorina.lloyd@nhls.ac.za
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Haematology
Manager: Mr. Mogamad Abdul Wahaab Davids
Telephone: 0214179338
the NHLS system)idea is to get them into HLS system)
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Laboratory Support Service
Manager: Mrs. Nomgcobo Tabita Tabita Makula
Telephone: 0219384169
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Media/Glassware
Manager: Mrs. Elzane Cronje
Telephone: 0214179350
Cellular: 0845042033
E-mail: elzane.cronje@nhls.ac.za
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Microbiology
Manager: Mrs. Anthea Collette Ryan
Telephone: 0214179344
Cellular: 0724799485
E-mail: anthea.ryan@nhls.ac.za
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Public Health
Manager: Mr. Johann Adriaan Steyl
Telephone: 0214179354
Cellular: 0822160586
E-mail: johan.steyl@nhls.ac.za
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GPC - Tuberculosis
Manager: Mrs. Marlein Elizabeth Bosman
Telephone: 0214179358
E-mail: marlein.bosman@nhls.ac.za
Address: Portswood Road
Greenpoint
Cape Town
Western Cape
Show Lab on Map
GSH - Chemical Pathology
Manager: Ms. Nasima Ahmed Yasien Mohamed
Telephone: 0214044196
E-mail: nasima.mohamed@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Cytology
Manager: Ms. Beverley Beverly Bollaert
Telephone: 0214043508
E-mail: beverley.bollaert@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Genetics
Manager: Mrs. Theresa Ruppelt
Telephone: 0214044509
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Haematology
Manager: Mr. Francois Etienne Barton
Telephone: 0214044151
E-mail: francois.barton@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Histopathology
Manager: Mrs. Carrol Ann Bilobrk
Telephone: 0214066173
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Immunology
Manager: Mrs. Erna Kotze
Telephone: 0113866000
Cellular: 0
E-mail: erna.kotze@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Laboratory Support Service
Manager: Mrs. Jolanda Truter
Telephone: 0214044322
Cellular: 0839618050
E-mail: yolande.truter@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Laboratory Support Service
Manager: Ms. Marguerita Hill
Telephone: 0214044133
Cellular: 0785448164
E-mail: margi.hill@nhls.ac.za
Address: Anzio Road
Observatory
Cape Town
Western Cape
Show Lab on Map
GSH - Management and Admin

13. Stakeholders
• Southern African Society for Human Genetics
• Academic Units/Medical Genetics
practitioners/boutique labs
• National Health Laboratory Services
• Government: Department of Science and
Technology/Department of Health
• Regionally: African Society for Human Genetics
(excellent continental network)

14. Objective
To discuss and debate the model presented
• Is the model required?
• Should it look like the one presented?
• What does the presented model lack?

15. Output
• For all the countries that are here
• It would be really good value to use this
documentation to provide an insight of what
is going on
• Internationally valuable mapping resource

16. Thank You