El 19 y 20 de noviembre de 2008 se realizó en San Juan, Puerto
Rico, un Taller de Genética y Salud Pública organizado por la
Organización Panamericana de la Salud, para Países del
Caribe de Habla Inglesa y Puerto Rico.
Pan American Health Organization
Report of a Workshop on Genetics and Public Health for
English Speaking Caribbean Countries and Puerto Rico, held
in San Juan, Puerto Rico, November 19-20, 2008
Coordinator: Prof. Dr. Victor B. Penchaszadeh, Professor of Genetics and Public
Health, Columbia University
1. Background:
The Pan American Health Organization started recently a Regional Action Plan on
Genetics and Public Health with the general objective promoting effective ways of
applying genetic technologies for the prevention of disease and the promotion of health in
the Region. The specific objectives of the Action Plan are:
1. To establish prioritization and guidelines criteria for the implementation of
genetic services in the Region, properly integrated into primary health care
2. To ensure proper application of ethical guidelines in the practice of medical
genetics and in genetics research, such as: obtaining and using DNA samples,
genetic databases, informed consent and intellectual property
3. To advise ministries of health and other governmental and non-governmental
organizations about public policies in genetics and health in the Region.
4. To stimulate training in genetics and public health among health professionals
and decision makers in the Region
2. Workshops on Genetics and Public Health
As part of its strategy to accomplish the above objectives, PAHO commissioned Prof. Dr.
Victor Penchaszadeh to organize and conduct subregional workshops on Genetics and
Public Health. The specific objective of these workshops is to promote interdisciplinary
analysis of the relationship between genetics and public health and the design and
implementation of public policies that contribute to the proper application of genetic
technologies for disease prevention and health promotion.
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The subject of this report is the first of a series of workshops on Genetics and Public
Health. It was directed at English-speaking Caribbean countries and Puerto Rico, and
took place in San Juan, Puerto Rico, November 19-20, 2008. The local host was the
School of Public Health of the University of Puerto Rico in San Juan, and the local
coordinator was its Dean, Dr. José Cordero. Participant countries were Jamaica,
Trinidad-Tobago, Barbados, Bahamas and Puerto Rico.
3. Participants:
BAHAMAS
Dr. Gwendolyn McDeigan
Consultant
Department of Paediatrics
Princess Margaret Hospital
Public Hospitals Authority
Telephone: 1 [242] 322 5025 [w]
1 [242] 380 5437 [pager]
E-mail address: neopaeddoc@coralwave.com
Dr. Latonia Moncur
Senior Medical Officer
Department of Public Health
Ministry of Health
Telephone: 1 [242] 361 6596 [h]
1 [242] 392 1784 [w]
E-mail address: nixlat@hotmail.com
BARBADOS
Dr. Marquita Gittens-St.Hilaire
Lecturer in Microbiology
Faculty of Medicine
The University of the West Indies
Cave Hill Campus
Cave Hill
St. Michael.
Director,
Leptospira Laboratory
Enmore #2
Lower Collymore Rock,
St. Michael
Barbados
Tel: 1-246-427-5586/1-246-436-6632
Fax: 1-246-426-9920
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Email: mgittens@uwichill.edu.bb
margitts2001@yahoo.com or margitts@gmail.com
JAMAICA
Dr. Colin McKenzie
Senior Lecturer
Tropical Medicine Research Institute
University of the West Indies, Mona Campus
Kingston 7, Jamaica
Email: colin.mckenzie02@uwimona.edu.jm
Dr. Tracey Gibson
Lecturer/Consultant
Department of Pathology
University Hospital of the West Indies
Mona, Kingston 7, Jamaica
Email: tracey.gibson@uwimona.edu.jm
TRINIDAD-TOBAGO
Dr. Kenneth Charles
Medical Director
National Blood Transfusion Service
Ministry of Health
160 Charlotte Street
Port of Spain
Trinidad and Tobago
Tel: (868) 627-2619
Fax: (868) 623-8204 or 627 2619
Email: skcharles58@hotmail.com
PUERTO RICO
Dr. José F. Cordero
Dean, Graduate School of Public Health
University of Puerto Rico
PO Box 365067
San Juan, PR 00936-5067
787 764-5975
jose.cordero6@upr.edu
Dr. Santiago Borrero
Head, Newborn Screening Program
Ministry of Health
Puerto Rico
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Tel 1 787 754 7410
Ms. Diana Valencia
Head, Registry of Congenital Malformations
Ministry of Health
Puerto Rico
Email: dvalencia@salud.gov.pr
UNITED STATES
Dr. Juan Acuña
Associate Professor Obstetrics, Gynaecology, and Epidemiology
Director Data, Information, and Research Coordinating Center
Florida International University College of Medicine
Guest Researcher, Centers for Disease Control and Prevention WHO-PAHO
Collaborating Center
11200 SW 8th Street
HLS II 367
Miami, FL 33199
Phone (305) 348 0676
Email: jacuna@fiu.edu
COORDINATOR
Dr. Victor B. Penchaszadeh
Professor of Genetics and Public Health
Mailman School of Public Health, Columbia University
República Arabe Siria 3260
1425 Buenos Aires
Argentina
Tel 54 11 4802 4361
Email: vbp2002@Columbia.edu
4. Agenda of the Workshop
Wednesday November 19:
9:00 - 9:30: Welcome addresses and introductions.
9:30 – 10:30: Medical genetics and its applications in public health. Introduction,
objectives and methodology of the workshop. Victor Penchaszadeh
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10:30 – 12:00: Overview of health situation and status of genetic health services and
research in participant countries. Presentations by participants.
12:00 – 12:30. Discussion
12:30 – 1:30 pm Lunch
1:30pm – 2: 30. Registries of congenital malformations: A tool for the study of the
epidemiology of congenital disorders and the detection of teratogens. Diana Valencia
2:30- 3:00. Break
3:00 – 4:00 pm: Newborn screening. Santiago Borrero
4:00 – 5:00: Clinical genetics and genetic counseling services. Victor Penchaszadeh
Thursday November 20:
9:00 – 9:45 am: Prenatal diagnosis. Juan Acuña
9:45 – 10:30 am: Diagnostic and predictive genetic testing. Victor Penchaszadeh
10:30- 11:00am: Break
11:00 – 11:45 Actions in genetics to promote health and detect genetic risk at the
primary, secondary and tertiary levels of care. Juan Acuña
11:45 – 12:30 - Ethical issues in genetic services. Victor Penchaszadeh
12:30 – 1:30: Lunch
1:30 – 5:00: Discussion and plan of action to integrate genetics into the health system in
participant countries
5. Presentations of participants
Presentations of faculty and participants sparked animated discussions. Overall, the
common denominator of the health situation in the participant countries is one of low
infant mortality and the preponderance of non communicable diseases as a share of
burden of disease. In terms of genetic services in Bahamas, Barbados, Jamaica and
Trinidad-Tobago, there is a lack of services for the diagnosis of genetic disorders and
genetic counseling and testing in the public health system. The important exception is the
diagnosis of sickle cell anemia and the proper management of affected patients. In
contrast, the private sector offers some genetic services using private laboratories
overseas, including prenatal screening and prenatal diagnosis by amniocentesis. It was
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noted that only a small fraction of the population of these countries can afford the fees
charged by the private sector.
Dr. Gittens St Hilaire from Barbados reported that the only genetic test performed in
Barbados is for the diagnosis of sickle cell disease. There are no dedicated genetics or
genomics laboratories in Barbados. All other tests inclusive of maternal serum
biochemical markers, cancer or cardiovascular markers etc are performed overseas.
There is no designated genetic counselor in Barbados.
Dr. Gibson from Jamaica reported preliminary discussions being held at the UHWI
between an obstetrician with specialist training in maternal & foetal medicine and the
chemical pathology (clinical chemistry) laboratory, to start second trimester prenatal
screening (triple test – alpha fetoprotein, human chorionic gonadotropin and
unconjugated oestriol). In addition, the Department of Pathology at the University
Hospital of the West Indies/ University of the West Indies plans to establish a
cytogenetics laboratory to perform routine karyotyping and FISH analysis. On the other
hand, there is no formal genetic counseling, nor any immediate plans to institute this
service in the public sector.
Dr. McKenzie from Jamaica discussed the importance that biomedical research be linked
to health services. He presented as examples the research work being performed at the
Tropical Medicine Research Institute of the University of the West Indies, on genetic
susceptibility of hypertension and of oedematous severe childhood malnutrition. He also
described the newborn screening program for sickle cell disease and how an
internationally recognized cohort study started in 1973 has provided considerable data on
the natural history and on interventions to improve the outcomes of persons with HbSS.
Currently the NBS program in Jamaica covers 33% of births/year.
Dr. Moncur from Bahamas reported a similar lack of genetic services in the public sector.
All mothers are screened for sickle cell disease during pregnancy. If found to be sickle
cell positive or sickle cell trait, the baby is screened at 6 months. On another topic, and
given that young Bahamian women were being diagnosed with advanced stages of breast
cancer in Florida where they were seeking medical care, a study was initiated by
physicians in the Bahamas in collaboration with the University of Miami to determine
whether this was due to mutations in the BRCA1/2 genes or to other factors. The research
is still ongoing.
Dr. Santiago Borrero and Ms Diana Valencia presented the excellent experience of
Puerto Rico in newborn screening and the registry of congenital malformations. It was
apparent also that clinical genetic services and genetic counseling do exist in the main
medical centers of the major cities of the island. However, there is a shortage of
experienced clinical geneticists and genetic counselors, as well as of laboratories for
genetic tests, which tend to be shipped to private labs in the continental USA.
6. Discussion and conclusions
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Faculty and participants of Bahamas, Barbados, Jamaica and Trinidad-Tobago agreed
that there is a good case for the development of genetic services within the public health
sector in their countries, because of the recent reductions in infant mortality, the rise of
non-communicable diseases with genetic contribution and the development of new
technologies for the early detection and prevention. The reduction in infant mortality has
exposed congenital anomalies, which are now second cause of death of infants.
Furthermore, non-communicable diseases with genetic contribution in their causation are
increasing their contribution to the burden of disease.
There was consensus in that the development of genetic services should be lead by the
ministries of health, according to their own priorities and with participation of all
stakeholders (including clinicians and patient organizations) to determine the best
direction these services should take. According to the experience of other countries of the
Region, it was felt of high importance to develop the knowledge about the epidemiology
of congenital defects and of non-communicable diseases such as cancer, cardiovascular
conditions, diabetes, obesity and mental disorders. The best way to assess the prevalence
of congenital defects is to develop systematic registries of these conditions. The Region
has ample experience in this field and PAHO could easily assemble consultants to advise
the interested ministries of health to implement a registry of congenital malformations. A
similar approach could be entertained for the study of the non-communicable conditions
with genetic contribution mentioned above. Genetic services should be implemented in a
key hospital in each country, and training in clinical genetics and genetic counseling
could be offered to a single physician in each country, who would then be in charge of
addressing the demand for diagnosis of genetic conditions and genetic counseling. Given
that hemoglobinopathies are a significant health problem in the participant countries, it is
recommended that their diagnosis, prevention and treatment be given priority. Linkages
between pediatrics, internal medicine, obstetrics, hematology, pathology and public
health must be encouraged.
The group of participants expressed their interest in continuing being linked to genetic
initiatives by PAHO and in becoming the liaison between these initiatives and the
ministries of health in their countries.
7. Specific recommendations
1. It is recommended that, with the help of PAHO, a task force on the development
of genetic services in the English-speaking Caribbean countries be developed,
with the participants in this workshop as initial members.
2. It is recommended that the ministries of health of the participant countries
identify and select a physician to be trained in clinical genetics and genetic
counseling abroad, in order to stimulate the development of a clinical genetics
center in a key hospital of the country.
3. Implementation of a registry of congenital defects in newborns
4. Implementation of early detection and treatment of hemoglobinopathies is a
priority, which an approach of combining the best possible treatment with
prevention opportunities.
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5. It is recommended that a laboratory facility in genetics in the public sector could
be developed and shared by more than one country, starting with cytogenetics.
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