Genetics and genomics in Brazil: a promising future

Passos‐Bueno, Maria Rita; Bertola, Débora Romeo; Horovitz, Dafne Dain Gandelman; Ferraz, Victor Evangelista de Faria; Brito, Luciano Abreu

doi:10.1002/mgg3.95

Cited by 54 publications

(69 citation statements)

References 63 publications

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“…Genetic‐related activities that can be performed at PHC level include, for example, family history assessment, early clinical diagnosis and interventions, and genetic counseling. All of these can contribute to decreasing morbidity and mortality, thereby promoting family health (Horovitz et al ., ; Vieira et al ., ; Passos‐Bueno et al ., ; Ashton‐Prolla et al ., ).…”

Section: Introductionmentioning

confidence: 99%

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study

Lopes-Júnior

Júnior

Ferraz

et al. 2016

Nursing & Health Sciences

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Recent advances in genomics and related technologies have the potential to improve health care throughout the world. In this cross-sectional study, we examine genetics education, knowledge, and genetics-related experiences among the nurses and physicians who provide primary care in a Brazilian city. Fifty-four healthcare professionals from family health units participated in the study (response rate: 90%). Data were collected using a structured 36-item questionnaire divided into five axes: sociodemographic data and academic background; genetics education; genetics knowledge; genetics-related experiences in family practice; and knowledge regarding the National Policy for Comprehensive Care in Clinical Genetics in the Unified Health System. Although most participants (85.2%) acknowledged receiving some genetic content during their undergraduate education, the majority (77.8%) advised that they did not feel prepared to deliver genomics-based health care in primary care. The results suggest that nurses and physicians often lack the knowledge to provide genomics-based health care in primary care. Therefore, continuing education in genetics/genomics should be provided to primary healthcare professionals in order to enhance family practice and compliance with national policies.

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Section: Introductionmentioning

confidence: 99%

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study

Lopes-Júnior

Júnior

Ferraz

et al. 2016

Nursing & Health Sciences

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“…Until very recently, molecular genetic testing was accessible only through a few commercial laboratories, for patients able to pay out-of-pocket, or through research projects in reference centres (Toledo et al 2012;Melo and Sequeiros 2012;Horovitz et al 2013;Passos-Bueno et al 2014). Additional significant limitations are that genetic counselling is mainly provided by physicians (clinical geneticists or other MDs); there is no formal genetic education for non-MD health care professionals; and genetic counsellors are not yet recognized.…”

Section: Specificities Of the Application Of Ngs And Genomic Testing mentioning

confidence: 99%

“…It has also restricted the prescription of genetic tests to clinical geneticists, to assure that genetic counselling is performed. Two years later, in January 2014, molecular diagnostic technologies and genetic counselling were formally incorporated in the list of procedures of SUS in Brazil, in a law proposed by the Ministry of Health, to allow integral access to health care for persons with rare diseases, 80 % of which are genetic in nature (BRASIL 2014a, b;Passos-Bueno et al 2014). This landmark for clinical genetics included, for the first time, access to genetic testing to patients in the SUS.…”

Section: Specificities Of the Application Of Ngs And Genomic Testing mentioning

confidence: 99%

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

et al. 2015

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Despite significant advances in the diagnosis and treatment of genetic diseases in the last two decades, there is still a significant proportion where a causative mutation cannot be identified and a definitive genetic diagnosis remains elusive. New genome-wide or high-throughput multiple gene tests have brought new hope to the field, since they can offer fast, cost-effective and comprehensive analysis of genetic variation. This is particularly interesting in disorders with high genetic heterogeneity. There are, however, limitations and concerns regarding the implementation of genomic analysis in everyday clinical practice, including some particular to emerging and developing economies, as Brazil. They include the limited number of actionable genetic variants known to date, difficulties in determining the clinical validity and utility of novel variants, growth of direct-to-consumer genetic testing using a genomic approach and lack of proper training of health care professionals to adequately request, interpret and use genetic information. Despite all these concerns and limitations, the availability of genomic tests has grown at an extremely rapid pace and commercially available services include initiatives in almost all areas of clinical genetics, including newborn and carrier screening. We discuss the benefits and limitations of genomic testing, as well as the ethical implications and the challenges for genetic education and enough available and qualified health care professionals, to ensure the adequate process of informed consent, meaningful interpretation and use of genomic data and definition of a clear regulatory framework in the particular context of Brazil.

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“…Following the same feature of centralization of public health services in South and Southeast of Brazil, the panorama of our 50 years of experience in human and medical genetics shows a heterogeneous setting up of public and private genetic services across the country, with better infrastructure and development in these regions, when compared to other regions of the country (Passos-Bueno et al, 2014). However, genetics services in dentistry are still scarce or nonexistent along some parts of the country, and it remains unclear if there are genetic services available in dentistry area, not only for treatment but also for diagnosis.…”

Section: Is There One Main Gene?mentioning

confidence: 93%

Dental genetics in Brazil: Where we are

Casado

Quinelato

Cataldo

et al. 2018

Molec Gen & Gen Med

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Dentistry constitutes the basic nucleus of professionals of higher level of health in Brazil with one of the largest concentrations of dentists per capita in the world. However, the genetic in dentistry in Brazil is explored, basically, in research field. Future actions need to be performed in order to deep the whole knowledge about diagnosis and treatment of diseases with genetic basis in dentistry, in Brazil.

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Genetics and genomics in Brazil: a promising future

Cited by 54 publications

References 63 publications

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study

Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

Dental genetics in Brazil: Where we are

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