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

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An Erratum to this article was published on 29 July 2015

Abstract

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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Acknowledgments

The authors thank Marcia Santana Fernandes and Leonardo Stoll de Morais for the productive discussions and for their important contributions regarding privacy in the context of genetic testing and genetic disorders.

Conflict of interest

The authors declare that they have no competing interests.

Compliance with ethical standards

This work does not include any research done in human participants or animals. Informed consent was thus not applicable. This manuscript has not been submitted to other journals for simultaneous consideration. This manuscript has not been published previously (partly or in full). This study is not part of a larger one that has been split up into several parts. No data have been fabricated or manipulated to support our conclusions. No data, text or theories by others are presented as if they were the authors’ own. Proper acknowledgement to other work is given. Quotation marks are used for verbatim quoting, and permissions are secured for material that is copyrighted. Consent to submit has been received explicitly from all co-authors, as well as from the responsible authorities—tacitly or explicitly—at the institute/organization where the work has been carried out, before the work was submitted. All authors have contributed sufficiently to the scientific work and share collective responsibility and accountability for the statements and conclusions.

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Authors and Affiliations

  1. Serviço de Genetica Medica, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil

    Patrícia Ashton-Prolla & Filippo Pinto e Vairo

  2. Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

    Patrícia Ashton-Prolla, José Roberto Goldim & Ursula da Silveira Matte

  3. Serviço de Bioética, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil

    José Roberto Goldim

  4. Centro de Pesquisa Experimental, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil

    Patrícia Ashton-Prolla, José Roberto Goldim & Ursula da Silveira Matte

  5. i3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

    Jorge Sequeiros

  6. IBMC - Institute for Molecular and Cell Biology, Universidade do Porto, Porto, Portugal

    Jorge Sequeiros

  7. ICBAS, Universidade do Porto, Porto, Portugal

    Jorge Sequeiros

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  1. Patrícia Ashton-Prolla
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Correspondence to Patrícia Ashton-Prolla.

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This article is part of the special issue on “Genetics and Ethics in Latin America”

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Ashton-Prolla, P., Goldim, J.R., Vairo, F.P. et al. Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil. J Community Genet 6, 275–283 (2015). https://doi.org/10.1007/s12687-015-0238-0

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