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

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.

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

“…In January 2014, through Ordinance 199, the Ministry of Health introduced and approved the National Policy for Rare Diseases within the SUS, which encompasses some aspects of the NPCCCG assessed in this study. An important contribution of the policy is the need to train professionals to perform GC (Brazil, 2014;Lima & Horovitz, 2014;Ashton-Prolla et al, 2015).…”

“…In order to achieve this goal, healthcare professionals require a basic knowledge of genetic principles and the ability to integrate genomics into their daily clinical practice (Thompson & Brooks, 2011;Boyes, 2013;Umberger et al, 2013;Seven et al, 2015). In Brazil, the need has been recognized to structure the Unified Health System (SUS)a network of regionalized and hierarchical servicesto provide comprehensive care in clinical genetics (Brazil, 2009;Lopes-Júnior et al, 2014a;Passos-Bueno et al, 2014;Ashton-Prolla et al, 2015). In 2009, Brazil's Ministry of Health proposed a plan of action to pursue this challenge (Brazil, 2009).…”

“…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 Vieira et al, 2013;Passos-Bueno et al, 2014;Ashton-Prolla et al, 2015).…”

Diagnosis of Mucopolysaccharidoses

“…Ethical aspects are one of the main challenges of WES/WGS due to incidental findings, such as the identification of pathogenic mutations in genes not related to the main investigation [119]. Careful consideration will also need to be given to variants of unknown significance (VUS), identified through NGS.…”

‘Omics Approaches to Explore the Breast Cancer Landscape

“…Finally, genomic analysis for the early identification of tailored therapy for cancer patients has been made possible with the development of the Cancer Genome Atlas (TCGA) 1 . We envision that TCGA and COSMIC databases will revolutionize cancer patient diagnosis and treatment (Ashton-Prolla et al, 2015). This is already being realized in the MOSCATO trial where druggable genomic aberrations were identified and targeted in patients (Massard et al, 2017).…”