El asesoramiento genético: evolución, actualidad y retos en la era genómica / Genetic counseling: evolution, current affairs and challenges in the genomic era

Introducción: El asesoramiento genético es un proceso de comunicación centrado en el paciente/cliente, con el objetivo de ayudarlo a entender, adaptarse y ajustarse a las consecuencias médicas y psicosociales de las contribuciones genéticas a la enfermedad. Objetivo: Describir la evolución del concepto, modelos de asesoramiento genético y de la profesión de asesor genético, desde su inicio hasta la etapa actual, denominada era genómica con sus nuevos retos. Material y Métodos: Se llevó a cabo una sistematización a partir de la lectura reflexiva y crítica sobre el tema, en publicaciones sin límite de tiempo anterior y hasta el 2020; se contó también con la experiencia individual en la docencia, la asistencia médica y la investigación sobre el tema. Desarrollo: Se hace un recorrido y valoraciones acerca de los nuevos conceptos y modelos prácticos de asesoramiento genético, la profesión de asesor genético y los servicios, el asesoramiento genético en la era genómica y aspectos éticos. Conclusiones: El asesoramiento genético, en más de medio siglo de práctica formal influenciada por una variedad de factores sociales, culturales, históricos, locales - regionales y técnicos, ha evolucionado en sus objetivos y alcance. Los nuevos asesores (genómicos) tendrán que enfrentar nuevos dilemas éticos como: la decisión de comunicar hallazgos secundarios, el potencial de incertidumbre a partir de la gran cantidad de datos generados por las tecnologías genómicas; así como la posible vulneración de la privacidad, la discriminación, la estigmatización y el abuso, basados en el uso de la información genómica(AU)

Introduction: Genetic counseling is a patient/client centered communication process with the aim of helping them understand, adapt and adjust to the medical and psychosocial consequences of genetic contributions to the disease. Objective: To describe the evolution of the concept, models of genetic counseling and the profession of the genetic counselor from its inception to the current stage called the "genomic era" and its new challenges. Material and Methods: A systematization was carried out on the basis of reflective and critical reading on the subject. Publications without previous time limit and until 2020 were selected. Individual experience in teaching, medical assistance and research on the subject was also taken into account. Development: Analyses and assessments are made in relation to new concepts and practical models of genetic counseling, the profession of genetic counselor and services, genetic counseling in the genomic era and ethical aspects. Conclusions: Genetic counseling, in more than half a century of formal practice influenced by a variety of social, cultural, historical, local - regional and technical factors has evolved in its objectives and scope. The new (genomic) counselors will have to face new ethical dilemmas such as: the decision to communicate secondary findings; the potential for uncertainty from the large amount of data generated by genomic technologies; and the possible violation of privacy, discrimination, stigmatization and abuse based on the use of genomic information(AU)

Los servicios de genética médica en Venezuela / Medical genetics services in Venezuela / Serviços de genética médica na Venezuela

RESUMEN Objetivo. Caracterizar los servicios de genética médica de Venezuela con el fin de conocer la distribución de sus recursos, servicios, tecnologías y formación profesional. Métodos. Se realizó una investigación descriptiva, de tipo documental, entre febrero y noviembre de 2016 de los servicios de genética, mediante la revisión de fuentes documentales primarias y el uso de una ficha de recolección de datos en las instituciones de investigación para información referente a disponibilidad de recursos humanos, servicios de atención y diagnóstico, así como formación profesional, y la base de datos de la Sociedad Venezolana de Genética Humana, que permitió identificar los recursos humanos en centros de genética. El criterio de inclusión fue instituciones con recursos humanos formados en genética. Resultados. Los criterios fueron cumplidos por cuatro instituciones de investigación, siete universidades y cuatro hospitales, todos del sector público. En estas instituciones trabajan 124 profesionales, 56 son médicos y 68 se desempeñan en el área de laboratorio. Sesenta y dos por ciento de los profesionales pertenecen a las instituciones de investigación; estas cuentan con servicios de atención clínico, diagnóstico molecular, bioquímico y, con menos frecuencia, los análisis citogenéticos, prenatales y forenses. Cinco regiones del país tienen entre dos y cuatro médicos genetistas por millón de habitantes. El 96% de los profesionales de laboratorio se localizan en dos regiones (Capital y Zuliana), cinco regiones carecen de ellos. Las instituciones de investigación han formado en genética el 40% de los recursos humanos actuales del país. Conclusiones. Los servicios de genética presentan gran variabilidad de opciones diagnósticas, un acceso limitado y grandes aportes en formación profesional; se requieren políticas coordinadas que los integre y disminuya las brechas.

ABSTRACT Objective. To characterize medical genetics services in Venezuela and describe the distribution of their resources, services, technologies, and professional training. Methods. A descriptive, documentary study of genetic services was conducted between February and November 2016, involving a review of primary documentary sources and the use of a data collection form in research institutions to obtain information on the availability of human resources, clinical care, and diagnostic services, as well as professional training. Furthermore, the Venezuelan Society of Human Genetics database was used to identify the human resources available in genetics centers. The criterion for inclusion was being an institution with staff trained in genetics. Results. The inclusion criterion was met by four research institutions, seven universities, and four hospitals, all in the public sector. A total of 124 professionals work in these institutions; 56 of them are physicians and 68 are laboratory staff. Of these professionals, 62% are affiliated with research institutions, which offer patient care services, molecular and biochemical diagnostic services, and, more rarely, cytogenetic, prenatal, and forensic testing. Five regions of the country have between two and four physicians specializing in genetics per million inhabitants. Of the laboratory professionals, 96% are located in two regions (Capital and Zuliana); five regions have none. Research institutions have provided training in genetics to 40% of the country's current human resources. Conclusions. Genetics services show great variability in terms of diagnostic options. They train large numbers of professionals, but access is limited. There is a need for coordinated policies to integrate these services and reduce existing gaps.

RESUMO Objetivo. Caracterizar os serviços de genética médica da Venezuela com a finalidade de conhecer a distribuição dos recursos, prestação de serviços, tecnologias usadas e formação profissional nesta área. Métodos. Uma pesquisa descritiva documental dos serviços de genética médica foi realizada de fevereiro a novembro de 2016. Foi feita uma revisão das fontes documentais primárias nas instituições de pesquisa com o preenchimento de fichas de coleta de dados com informação sobre a disponibilidade de recursos humanos, prestação de serviços de atendimento e diagnóstico e formação profissional. Foi feita também uma revisão do banco de dados da Sociedade Venezuelana de Genética Humana para identificar os recursos humanos nos centros de genética. O critério de inclusão do estudo foi ser uma instituição com recursos humanos formados em genética. Resultados. Os critérios do estudo foram satisfeitos por 4 instituições de pesquisa, 7 universidades e 4 hospitais, todos da rede pública. Foram identificados 124 profissionais trabalhando nestas instituições: 56 médicos e 68 funcionários da área de laboratório. Sessenta e dois por cento dos profissionais pertencem a instituições de pesquisa que prestam serviços de atendimento clínico e diagnóstico molecular e bioquímico e, menos frequentemente, realizam análises citogenéticas, pré-natais e forenses. Cinco regiões do país têm entre 2 e 4 médicos geneticistas por milhão de habitantes. Além disso, 96% dos profissionais de laboratório estão distribuídos em 2 regiões (capital e Zuliana), sendo que não há nenhum profissional em 5 regiões. As instituições de pesquisa formam atualmente 40% dos recursos humanos em genética do país. Conclusões. Os serviços de genética médica são caracterizados por grande variabilidade nas opções diagnósticas, acesso limitado e grande contribuição para a formação profissional. Fazem-se necessárias políticas coordenadas para integrar e reduzir as lacunas.

Manual de normas y procedimientos servicios de genética médica en Cuba 2017

El manual de normas y procedimientos. Servicios médica en Cuba, tiene el propósito de constituirse en el documento metodológico rector para la organización y funcionalmente de lo servicios de genética médica en el país. Es una herramienta en el trabajo diario de los profesionales y técnicos que laboran en función de la promoción-prevención de las enfermedades genéticas y los defectos congénitos como parte del Sistema Nacional de Salud.

Perfeccionamiento de los servicios genéticos a gestantes y recién nacidos mediante la Red Informatizada de Salud SALGEN / Improvement genetics services to pregnant women and newborn by health informatic network SALGEN

La red informatizada de salud SALGEN se utiliza desde el 2009 en la atención genética a la gestante y el recién nacido en la provincia de Sancti Spíritus, insertada en las facilidades de conexión en tiempo real entre todas las instituciones de salud que brinda INFOMED. Se han atendido 34 452 gestantes hasta septiembre 2015, realizando evaluación de riesgo genético, pesquisa de anemia de hematíes falciformes, dosificación de alfafetoproteína, diagnóstico prenatal citogenético, ultrasonido de cada trimestre, características del parto y del recién nacido, pesquisas metabólicas neonatales y evaluación genético clínica del lactante. El software brinda160 reportes que han permitido evaluar la calidad de todos los procederes del programa de la atención genética a gestantes y recién nacidos y otras acciones organizativas del programa de atención materno infantil además de indicadores evaluativos para ecografía prenatal de acuerdo a estándares internacionales que son visualizados online por los especialistas como forma de autoevaluación. Los resultados validan al sistema informático para su utilización a nivel de cualquier policlínico, municipio o provincia del país. Este trabajo tiene por objetivo evidenciar la utilidad de SALGEN en el perfeccionamiento de la atención genética a gestantes y recién nacidos y en el control de calidad de acciones del Programa de Atención Materno Infantil (PAMI)(AU)

The Sancti Spíritus Provincial Medical Genetics Network has been using the Salgen informatics platform since 2009 for health care, administrative and research activities oconcerning pregnant mothers and newborns. The network uses the national Infomed backbone to provide real-time connection between community-based polyclinics in primary health care and the Provincial Medical Genetics Reference Center. Until September 2015 the platform has recorded 34 452 pregnant women and sequential clinical data on genetic risk assessment in early pregnancy, prenatal ultrasound, sickle cell anemia screening, alpha-fetoprotein levels, cytogenetic antenatal diagnosis, delivery and newborn characteristics, neonatal metabolic screening, and infant clinical assessment. The system makes health care results immediately available and provides 160 health alerts to enable timely preventive care for pregnant women. It also provides guidelines for processes and practices, and streamlines administrative and monitoring activities through statistical reports. The database generates indicators for assessing fetal growth and applies international standards for antenatal ultrasound quality control. Salgen can be use in any institution of primary health services, municipality or provinces of Cuba(AU)

Utility of Transmission Electron Microscopy in Small Round Cell Tumors

Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin\'s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.

Gene therapy, science fiction or science fact?

The term gene therapy is commonly understood to be the use of DNA as a pharmaceutical agent to treat diseases. This may be done by replacing defective or absent genes or to counteract those that are overexpressed. This would have been a science fiction story only a few years ago. Currently, gene therapy has attracted considerable attention and has become a hot topic for investigation. Gene therapy aims to repair the cause of the problem and not merely suppress symptoms, provides long-term cure, and does not require repeated applications or clinic visits

Contribuição oftalmológica no exame de pacientes do Serviço de Genética do Hospital das Clínicas da UFMG / Ophthalmology contribution to patients referred from the genetic service of UFMG University Hospital

Objetivos: determinar o perfil dos pacientes encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG para avaliação oftalmológica no Hospital São Geraldo, no período de julho de 2008 a janeiro de 2010; determinar as principais causas desses encaminhamentos, as alterações encontradas nos pacientes e os achados mais comuns em algumas das doenças encontradas. Métodos: estudo descritivo baseado em dados dos pacientes atendidos no Setor de Retina do Hospital São Geraldo, encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG, no período de julho de 2008 a janeiro de 2010. Foram coletadas informações sobre gênero, idade, motivo do encaminhamento, principais características clínicas e suspeita diagnóstica. Para cada paciente foram realizados biomicroscopia do segmento anterior e exame do fundo de olho. Resultados: no período foram avaliados 100 pacientes. As principais suspeitas diagnósticas foram retardo mental e dismorfismos sem diagnóstico estabelecido (21%), síndrome de Marfan (12%), síndrome de Cohen (11%), erro inato do metabolismo (9%), neurofibromatose tipo 1 (5%) e síndrome de Stickler (4%). A avaliação oftalmológica contribuiu para o esclarecimento diagnóstico em 66% dos casos. As principais alterações encontradas foram: palidez de disco óptico 10%; estrabismo, iridodonese e alteração da pigmentação da retina, 7% cada; aumento da escavação do disco óptico 6%, disco óptico hipoplásico 5%, coloboma eptose palpebral, 4% cada. Conclusões: as alterações oftalmológicas são características importantes em diversas doenças genéticas. Quando avaliadas adequadamente podem contribuir para o diagnóstico e para estabelecer o prognóstico das síndromes genéticas...

Objectives: To identify the profile of the patients referred from the Special Genetic Service of UFMG University Hospital to ophthalmologic evaluation at São Geraldo Hospital from July 2008 through January 2010; to determine the major causes of such referrals, the patients? disorders, and the most common findings for some of the diseases. Methods: This is a descriptive study based on data of patients at the Retina Sector of São Geraldo Hospital that were referred from the Special Genetic Service of UFMG University Hospital from July 2008 through 2010. The collection included data on gender, age, reason for referral, main clinical characteristic, and suspected diagnosis. Biomicroscopy of the anterior segment and fundoscopy were carried out for all patients. Results: A total of 100 patients was assessed in the period. The main suspected diagnoses were mental retardation and dimorphisms without established diagnosis (21 %), Marfan syndrome (12 %), Cohen syndrome (11 %), innate errors of the metabolism (9 %), neurofibromatosis type 1 (5 %), and Sitckler syndrome (4 %). The ophthalmologic examination contributed to clarifying diagnosis in 66 % of the cases. The major disorders found were: pale optic disc (10 %); strabismus, irregular retinal pigmentation, and iridodonesis (7 % each); increased optic disc cupping (6 %); hypoplastic optic disc (5 %); and coloboma and ptosis (4 % each). Conclusions: Ophthalmologic disorders are important characteristics inherent to several genetic disorders. When properly assessed, they are of great relevance for diagnosis and prognostic of genetic syndromes...

Current Issues and Tasks of Genetic Cancer Nursing in Korea

PURPOSE: The purpose of this review article is to introduce how the Korean Society of Genetic Nursing (KSGN) has evolved and tried to translate genomic knowledge to nursing practice, and then to suggest the future role of genetic nurses in Korea. METHODS: A literature review was performed and the current status of genetic counselling in Korea was explored. Then the educational and clinical experiences of the authors were incorporated. Finally, the main activities of Korean nursing for genetics were identified. RESULTS: Two types of genetic counsellor certification have been issued in Korea: one is issued by the Korean Society of Genetic Medicine, another by the Korean Society of Breast Cancer since June 2011. A few Korean nursing researchers have continuously performed research related to genetic nursing and undertook several research projects funded by the government since 2003. In February 2011, KSGN was established and is now trying to establish further international networks. CONCLUSION: Nursing genetic experts should be trained to integrate all specialties for genetic counselling, so they can provide holistic genetic services including ethical, legal, and social issues (ELSI).

Utility of molecular studies in incontinentia pigmenti patients.

The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.

A master of science in genetic counseling program in the Philippines

In the Philippines, there is an urgent need to expand the clinical services for diagnosis, management and emotional support for patients with genetic conditions and their family members. Despite the lack of trained providers with specialization in genetics, public health related geneticsprograms are continuously being implemented. These address these current demands,strategic planning began in 2009 between local medical geneticists and international genetic professionals to develop the curriculum for an advanced degree in genetic counseling program. The board of regents at the University of the Philippines approved the proposed curriculum in January 2011, and training of the Philippines first cohort of genetic counseling students commenced in June 2011. The successful implementation of the MS of Genetic Counseling program will provide the opportunity to incorporate the match needed genetic counseling services in the country.

[Study of the genetic disorders of couples attending genetics clinic, Imam Khomeini hospital complex during 1995 to 2004]

Background and Aim: These days with the improvements in science and technology the number of individuals who suffer from genetic disorders should be drastically less. A crucial method for preventing these disorders, in the first place, is by genetic counseling. Educating the public in regards to how they can avoid producing affected children

Materials and Methods: In this retrospective cross-sectional study, all the files of the couples attending Genetics Clinic of the Imam Khomeini Hospital Complex, during 1995 to 2004 were studied. The data were collected using a reliable questionnaire and SPSS software was applied for data analysis

Results: The most important variable in this study was the relationship between the couples. The most frequent among the consanguineous marriages was the cross first cousins [45.3%], and the least frequency belonged to non-related marriages [6.4%]. The most frequent genetic diseases belonged to children who their parents were parallel first cousins [84.8%]

Conclusion: Due to the importance of genetic counseling in relation to reducing the frequency of the genetic disorders in society, educating the general public about compulsory genetic counseling before marriage, is the cheapest and the most effective approach in limiting the number of patients with genetic abnormalities

Communication Patterns in Korean Families during BRCA Genetic Testing for Breast Cancer / 종양간호학회지

PURPOSE: The purpose of this micro-ethnography is to examine whether science and societal changes impact family communication patterns among a convenience sample of 16 Korean women. METHODS: The authors observed family communication in the context of a new breast cancer genetic screening and diagnostic testing program to detect BRCA gene mutations in Korean women at highest risk. RESULTS: Analysis of in-depth interviews and field notes taken during participant observation illustrated that communication patterns in families vary according to a woman's position in the family. If a grandmother tests positive for a gene mutation, her daughters make decisions on her behalf; they open and maintain the communication channel among family members. If a housewife is diagnosed with cancer and a genetic mutation, she immediately consults her husband and her sisters. The husband creates an open communication channel between his wife, his parents and his siblings. As a result, a woman's cancer is a concern for the whole family not merely a woman's secret or crisis. CONCLUSION: Cultural differences are important to consider when designing new genetic service programs in different countries.

Feasibility of introducing genetic services in the National Family Welfare Programme in India.

Background & objective: Genetic factors could play an important role in the outcome of pregnancy. This study was carried out to identify risk factors that result in adverse pregnancy outcome and to develop a system of screening and referral to a tertiary hospital equipped with facilities for diagnosis and management of such high risk pregnancies. Methods: District level hospitals close to the participating centers e.g. All India Institute of Medical Sciences, New Delhi, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, BJ Medical College, Pune, St. John Medical College, Bangalore and Genetic Research Center, (ICMR), Mumbai, were selected. Pregnant women < 28 wk gestation attending antenatal OPD of selected district hospitals were included. All eligible women who gave consent for participation in the study, were screened using a predesigned proforma based on family history, past pregnancy history, history of genetic disease/ congenital malformation in previous child and history of present pregnancy. Pregnancy outcome was noted. Results: There was statistically significant difference in the outcome of pregnancy in the following groups: (i) past pregnancy history of 3 or more spontaneous abortions (RR= 3.9; CI=1.17-9.02); (ii) still birth (RR= 2.5; CI= 1.41-4.48); (iii) previous child with neurol tube defect (NTD) (RR=2.3; CI= 1.22- 4.60); and (iv) previous child with congenital malformation (RR=2.2; CI = 1.11- 4.35). Interpretation & conclusion: A sample questionnaire may be used for screening of pregnant women at risk of having and adverse outcome. Also screening of pregnant women for thalassaemia carrier state and maternal serum α-foetoprotein (AFP) for NTD may be useful.

Chorionic villus sampling: a safe tool for prenatal diagnosis of genetic disorders

To determine the safety and efficacy of chorionic villus sampling [CVS] for early prenatal diagnosis of genetic disorders. Descriptive study. Department of Obstetrics and Gynecology, Foundation University Medical College, Rawalpindi, from December 2002 to April 2006.Subjects who had high risk factors like personal or family history of genetic disorders were referred to us for CVS after 10 gestational weeks. Under local anaesthesia and ultrasound guidance [USG] guidance a special chorion biopsy double needle [outer guide and inner aspiration needle] was introduced through anterior abdominal wall into placenta to obtain specimen from chorionic villi. Women were observed for 1-2 hours to notice any immediate complications like uterine cramps and vaginal bleeding. Follow up was done till end of pregnancy to know the outcome. Specimen obtained was sent to laboratory for DNA analysis to diagnose beta-thalassaemia in 234 patients and for karyotyping to diagnose Down's syndrome in 17 patients. Of 252 CVS performed, sample was successfully obtained in 99.6% of cases and only one procedure failed. Most common indication was beta -thalassaemia [93.0%]. The immediate complications were uterine cramps in 41 [16.3%], vaginal bleeding in one [0.8%] and amniotic cavity puncture in six [2.4%] subjects. Noteworthy was the fact that miscarriage rate was quite low [2.4%]. At follow up no evidence of incorrect sampling was reported. Of 234 specimens for DNA analysis, 23.5% were homozygous for beta-thalassaemia, to whom termination of pregnancy [TOP] was offered to prevent birth of an abnormal baby. CVS is a safe and effective method for early prenatal diagnosis of genetic disorders. Its use can help in early detection and prevention of birth of babies with lethal genetic disorders

Challenge of Personalized Medicine in the Genomic Era

"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the 21st century "genomic era." This is especially true in Korea, where provisions for clinical genetic services are inadequate for the existing demand, let alone future demands. Genomics-based knowledge and tools make it possible to approach each patient as a unique biological individual, which has led to a paradigm-shift in medical practice, giving it more of a predictive focus as compared with current treatment oriented approach. With recent advancements in genomics, many genetic tests, such as susceptibility genetic tests, have been developed for both rare single gene diseases and more common multifactorial diseases. Indeed, genetic tests for presymtomatic individuals and genetic tests for drug response have become widely available, and personalized medicine will face the challenge of assisting patients who use such tests to make appropriate and wise use of genetic risk assessment. A major challenge of genomic medicine lies in understanding and communicating disease risk in order to facilitate and support patients and their families in making informed decisions. Establishment of a health care system with provisions for genetic counseling as an integral part of health care service, in addition to genomic literacy of health care providers, is vital to meet this growing challenge. Realization of the promise of personalized medicine in the era of genomics for improvement of health care is dependent on further development of next generation sequencing technology and affordable sequencing test costs. Also necessary will be policy development concerning the ethical, legal and social issues of genomic medicine and an educated and ready medical community with clinical practice guidelines for genetic counseling and genetic testing.

Resultado del programa de genética comunitaria, área centro, Ciego de Avila, 2005 / Results of the community genetics programs, central area, Ciego de Avila, 2005

La evaluación de los programas de Genética Comunitaria, en el área centro del municipio Ciego de Ávila, no tiene antecedentes. Después del año 2002 en la Atención Primaria de Salud (APS) se resuelve por primera vez: acercar los servicios de genética a la comunidad, realizar el seguimiento preconcepcional, prenatal y postnatal del riesgo genético. Brindar servicios de asesoramiento genético preconcepcional, prenatal, postnatal, y de las enfermedades del adulto. Registrar y controlar las malformaciones congénitas y las enfermedades genéticas puras que están incidiendo en el área. Identificar y controlar los pacientes con agregación familiar para las enfermedades comunes y dar un nuevo enfoque al seguimiento y control del discapacitado. Por todo lo antes expuesto se ejecutó una investigación en el Policlínico Comunitario Docente Área Centro del municipio de Ciego de Ávila en el período correspondiente al año 2005 con el objetivo de evaluar la calidad de los servicios de la Genética comunitaria, se exponen principales resultados y se emiten recomendaciones.

The evaluation of the community genetics programs,in central area of Ciego de Avila, don´t have antecedents. Since 2002 in the Primary Health Assistance (PHA) resolve for the first time: to approach genetics services to the community, to do a preconceptional, prenatal and postnatal pursuit of genetics risk. To offer services of genetics advisory preconceptional, prenatal and postnatal and about the adults illnesses. To register and to control the congenital malformations as well as pure genetics illnesses that are affecting this area. To identify and to control the patients with family addition to common illnesses and it´s given a new approach to the pursuit and control disabled persons. For all this it was put into practice a research in the Community Polyclinic of the central area of Ciego de Avila during 2005 with the purpose to evaluate the quality of community genetics services, there are also expound the main results and send out recommendations.

Servicios para la atención y la prevención de defectos congénitos: Síntesis de una reunión de la Organización Mundial de la Salud y la Fundación March of Dimes / Services for the care and prevention of birth defects. Reduced report of a World Health Organization and March of Dimes Foundation meeting

On 17-19 May 2006, the World Health Organization (WHO) and the March of Dimes Birth Defects Foundation held a meeting in Geneva: The Management of Birth Defects and Haemoglobin Disorders. Meeting participants included 18 experts from developing and industrialized countries, including the author and nine staff from WHO Headquarters. The meeting had five goals: (A) ratify the data on the global toll of birth defects presented in the MOD Global Report; (B) agree upon a definition of terms; (C) develop a collaborative plan for strengthening care and prevention of birth defects; (D) develop a plan for strengthening care and prevention of haemoglobin disorders; and (E) determine how potential stakeholders could contribute to these efforts. The consensus for each of the goals were: a) Participants endorsed the estimates in the MOD Global Report, b) Participants concluded that the term "birth defect" is synonymous with the term "congenital disorder", whereas the term "congenital anomalies" should be avoided, c) Participants agreed that 70 percent of birth defects could be prevented, ameliorated or treated effectively, by the strengthening of medical genetic services, d) Participants agreed that efforts must be made to improve the control of hemoglobin disorders in developing countries, and e) Progress will require the combined efforts and political will of the WHO.

Atenção aos defeitos congênitos no Brasil: características do atendimento e propostas para formulação de políticas públicas em genética clínica / Birth defects in Brazil and health care: proposals for public policies in clinical genetics

O impacto dos defeitos congênitos no Brasil vem aumentando, apontando para a necessidade de estratégias específicas na política de saúde. Apesar da íntima ligação da genética clínica com a atenção aos defeitos congênitos, menos de 30 por cento da demanda vem sendo absorvida pelos serviços do país. São problemas na atenção aos defeitos congênitos: dificuldades de acesso aos serviços de genética com concentração destes no Sul/Sudeste e suporte laboratorial insuficiente. Para melhor abordagem aos defeitos congênitos, ações para o estabelecimento de política em genética clínica deveriam ser deflagradas, preferencialmente sob coordenação de grupo técnico vinculado ao Ministério da Saúde, tendo como objetivo organizar rede clínico-laboratorial na especialidade. Ações visando à otimização de recursos e ao aumento da cobertura deverão ser consideradas. Para suporte laboratorial são prementes arranjos visando o fluxo de exames e criação de mecanismos de financiamento. Ações complementares de prevenção e registro epidemiológico dos defeitos congênitos, educação médica e do usuário são recomendadas. Com tais propostas contempladas, será possível a estruturação de uma rede regionalizada, hierarquizada e funcional, além de mais justa e mais democrática, voltada à atenção aos defeitos congênitos no Brasil.

The impact of birth defects in Brazil has increased steadily, indicating the need for specific health policy strategies. Despite the close relationship between clinical genetics and management of birth defects, less than 30 percent of the total demand is currently met by existing genetic services. The main problems are: difficult access to genetic services, services highly concentrated in the South and Southeast regions of the country, and insufficient laboratory support. With the aim of improving management of birth defects, a specific national policy coordinated by the Ministry of Health needs to be developed. The main goal of such a policy should be the organization of a functional integrated genetics network, in addition to rational use of resources and enhanced coverage. In order to formalize a national laboratory network, sample shipping and billing mechanisms must be created. Birth defect prevention, education for the medical community and general population, and solid epidemiological data collection are strongly recommended as complementary measures. If such recommendations are implemented, it could be possible to organize a network for management of birth defects in Brazil that is regionalized, hierarchical, functional, and democratic as well.