Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy.16126126

Ramalho A.S.

Silva R.B.

English

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261
Cad. Saúde Pública, Rio de Janeiro, 16(1):261-263, jan-mar, 2000
NOTA  RESEARCH NOTE
Community Genetics: a new discipline 
and its application in Brazil
Genética Comunitária: uma nova disciplina 
e sua aplicação no Brasil
1 Departamento 
de Genética Médica,
Faculdade de Ciências
Médicas, Universidade
Estadual de Campinas.
C. P. 6111, Campinas, SP
13081-970, Brasil.
dgmfcm@obelix.unicamp.br
Antonio Sérgio Ramalho 1
Roberto Benedito de Paiva e Silva 1
Abstract  Community genetics is a new discipline which aims to provide genetic services to the
community as a whole. As a science, community genetics encompasses all research needed to de-
velop and evaluate its application. There is no question that the development of community ge-
netics is necessary in Brazil. The implementation of such programs in our country, especially for
hemoglobinopathies, has been recommended by the World Health Organization and other inter-
national organizations. Apart from the need for and appeal of community genetics programs,
some aspects require serious review. This article discusses various cultural, social, psychological,
and economic factors that can make genetic screening an invasion of individual privacy.
Key words  Community Genetics; Genetic Counseling; Genetics
Resumo  A Genética Comunitária é uma nova disciplina, que tem por objetivo o fornecimento
de serviços de genética para a comunidade como um todo. Enquanto ciência, engloba todas as
pesquisas necessárias ao desenvolvimento e à avaliação das suas aplicações. Indiscutivelmente,
o desenvolvimento da disciplina no Brasil é muito necessário e a implantação de programas
brasileiros de genética comunitária vem sendo recomendada pela Organização Mundial de
Saúde e por outras organizações internacionais, sobretudo para as hemoglobinopatias. Apesar
da necessidade e do lado atraente dos programas comunitários, alguns aspectos destes devem ser
seriamente considerados. No presente artigo, são discutidos alguns fatores culturais, sociais, psi-
cológicos e econômicos que podem transformar a triagem genética em uma invasão da privaci-
dade dos indivíduos.
Palavras-chave  Genética Comunitária; Aconselhamento Genético; Genética
RAMALHO, A. S. & PAIVA E SILVA, R. B.262
Cad. Saúde Pública, Rio de Janeiro, 16(1):261-263, jan-mar, 2000
The emerging possibilities of applying new di-
agnostic techniques to genetic diagnosis and
population screening indicate the need for a
community genetics discipline (Modell &
Kuliev, 1998). As with many other disciplines,
community genetics has both scientific and
applied aspects (Ten Kate, 1998). Its aim is to
deliver genetic services to the community as a
whole. As a science, community genetics en-
compasses all research needed to develop and
evaluate its application. Community genetics
as a science is a broad field which is better
characterized as meta-genetics than by its con-
tribution to genetics itself (Ten Kate, 1998).
Population screening is an essential part of
community genetics. There are two major
types of genetic screening tests. The first aims
at the early recognition of affected individuals
for whom medical intervention will have a
beneficial effect. This group includes fetal
screening, with prenatal diagnostic tests for
conditions like Down’s syndrome, and neona-
tal screening, of which the classic example is
the phenylketonuria survey. The second major
form of genetic screening, more common in
community genetics programs, is the identifi-
cation of individuals at risk of transmitting a
genetic disease. Classic examples are carrier
detection tests for diseases such as Tay-Sachs,
cystic fibrosis, sickle cell anemia, and the tha-
lassemias (Gelehrter & Collins, 1990).
Among the hereditary disorders, the hemo-
globinopathies are the ideal field for Brazilian
community genetics programs, for three rea-
sons: they are the most common serious sin-
gle-gene disorders in this country, they are rel-
evant to health, and screening programs for
hemoglobinopathies have been initiated in
some universities. Because of the ethnic com-
position of the population, sickle cell syn-
dromes, hemoglobin C, and ß–thalassemia are
common in Brazil and constitute a public
health concern (Ramalho, 1986). In an attempt
to ameliorate this situation, an optional genet-
ic counseling program for hemoglobinopathies
has been developed by the authors at the Blood
Center of the State University of Campinas
(UNICAMP) over the last 15 years (Paiva e Silva
et al., 1993; Ramalho et al., 1995).
Implementation of community hemoglo-
binopathy programs in Latin America has been
recommended by the World Health Organiza-
tion (WHO, 1983), the Third World Academy of
Science (TWAS, 1986), and the Pan-American
Health Organization (OPS, 1987). The WHO
Committee for the Prevention and Control of
Hemoglobinopathies has again recommended
the implementation of community hemoglo-
binopathy programs in Latin America, espe-
cially in Brazil (Penchaszadeh, 1993). Other ex-
amples of genetic disorders amenable to com-
munity programs in Brazil are cystic fibrosis in
the white population, Tay-Sachs disease in Jew-
ish communities, and glucose-6-phosphate de-
hydrogenase deficiency in the population as a
whole. However, a community program’s suc-
cess depends on the population’s receptivity to
such studies. Evaluation of results is thus im-
portant, since receptivity depends on socioe-
conomic, psychological, and cultural factors.
Indeed, as commented by Bowman (1991),
population programs are often conceived in a
theoretical, idealized world, but are carried out
in the very different real world.
Apart from the need for and appeal of com-
munity genetics programs, some aspects rele-
vant to Brazil and other Latin American coun-
tries should be considered:
• Community programs must be offered on
a voluntary basis, as recommended by the
Medical Code of Ethics. The ability to achieve
prospective carrier screening depends on the
availability of motivated individuals, level of
development of health services, and rate of
change in social attitudes in each country
(Modell & Kuliev, 1998). In an extensive survey
of a Brazilian population, Teixeira & Ramalho
(1994) encountered a good community response
to an optional program on hereditary hemoglo-
binopathies. However, many researchers tend
to routinely perform involuntary screening,
generally not consulting the screened individ-
uals about their desire to participate.
• Community programs require adequate in-
frastructure to provide population screening,
genetic counseling, and information and edu-
cation to professionals and the public at large.
In Brazil, such infrastructure is still highly pre-
carious in some regions and requires urgent
development.
• Genetic counseling is a communications
process dealing with human problems associ-
ated with the occurrence (or risk of occurrence)
of a genetic disorder in a family. This process
involves an attempt by one or more appropri-
ately trained professionals to help the individ-
ual or family understand the medical facts and
make the best possible adjustment to the dis-
order. Since genetic counseling is a communi-
cations process, several aspects of information
transfer must be considered. One must assess
the emotional, cultural, and intellectual recep-
tivity of individuals seeking such counseling.
The information communicated is often emo-
tionally loaded and may contain medical
information that is difficult for individuals to
Cad. Saúde Pública, Rio de Janeiro, 16(1):261-263, jan-mar, 2000
understand and/or accept (Gelehrter & Collins,
1990). Thus, in many community genetics pro-
grams, genetic counseling is provided by a mul-
tiprofessional health team, including physi-
cians, medical geneticists, psychologists, social
workers, and specifically trained genetic coun-
selors.
• Communities should be consulted about
the application of new genetic knowledge
(Modell & Kuliev, 1998). However, in Brazil such
public consultation is hampered by people’s
limited knowledge about genetics.
• Community programs in the Northern
Hemisphere include prenatal diagnosis and
the possibility of “therapeutic” abortion in
their methodology. The aim of prenatal diagno-
sis is to offer parents the assurance of having
unaffected children when the risk of having an
affected child is unacceptably high. Prenatal
diagnosis also allows one to convert a proba-
bility statement about the risk of a specific dis-
ease to a certainty. However, Brazilian legisla-
tion forbids abortions in such cases. Therefore,
the sheer application of new genetic tech-
niques to clinical problems may clash with re-
ligious, socioeconomic, and legal factors that
cannot be ignored.
• Population screening of asymptomatic het-
erozygotes in order to provide genetic guid-
ance entails the risk of labeling, discrimina-
COMMUNITY GENETICS 263
tion, stigmatization, and loss of self-esteem by
screened individuals (Wilkie, 1994). The effect
of a community program varies according to
the circumstances of screening and genetic
counseling. Social, cultural, and psychological
aspects must thus be considered in each case.
The effects of genetic counseling for Brazilian
blood donors with the sickle cell trait (hemo-
globin S heterozygotes) has been investigated
(Paiva e Silva & Ramalho, 1997). The theoretical
risks of genetic screening did not appear to be
a cause for concern in most of the cases exam-
ined. However, despite the ethical and psycho-
logical precautions taken, signs of stigmatiza-
tion, labeling, discrimination, and loss of self-
esteem were evident in a few cases. These pa-
tients received psychological support. We won-
der whether other Brazilian community pro-
grams evaluate the psychological effects of their
counseling.
The above-mentioned difficulties are obvi-
ously not insurmountable in Brazil. However,
this word of caution is intended to help prevent
Brazilian community genetics programs from
invading individual privacy under the auspices
of a new discipline. Several Brazilian research
centers currently fulfill the technical, profes-
sional, and ethical conditions needed for the
development of high-quality community ge-
netics programs.
References
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