In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the Brazilian healthcare system. The cohort presented here results from a joint collaboration between private and public hospitals in Brazil considering the initiative of a clinical laboratory to provide timely diagnosis for critically ill infants. We performed trio (proband and parents) WGS in 21 infants suspected of a genetic disease with an urgent need for diagnosis to guide medical care. Overall, the primary indication for genetic testing was dysmorphic syndromes (n = 14, 67%) followed by inborn errors of metabolism (n = 6, 29%) and skeletal dysplasias (n = 1, 5%). The diagnostic yield in our cohort was 57% (12/21) based on cases that received a definitive or likely definitive diagnostic result from WGS analysis. A total of 16 pathogenic/likely pathogenic variants and 10 variants of unknown significance were detected, and in most cases inherited from an unaffected parent. In addition, the reported variants were of different types, but mainly missense (58%) and associated with autosomal diseases (19/26); only three were associated with X-linked diseases, detected in hemizygosity in the proband an inherited from an unaffected mother. Notably, we identified 10 novel variants, absent from public genomic databases, in our cohort. Considering the entire diagnostic process, the average turnaround time from enrollment to medical report in our study was 53 days. Our findings demonstrate the remarkable utility of WGS as a diagnostic tool, elevating the potential of transformative impact since it outperforms conventional genetic tests. Here, we address the main challenges associated with implementing WGS in the medical care system in Brazil, as well as discuss the potential benefits and limitations of WGS as a diagnostic tool in the neonatal care setting.
Genetic Testing , Intensive Care Units, Neonatal , Whole Genome Sequencing , Humans , Brazil/epidemiology , Infant, Newborn , Male , Female , Genetic Testing/methods , Pilot Projects , Infant , Genetic Diseases, Inborn/diagnosis , Genetic Diseases, Inborn/genetics
A patologia clínica/medicina laboratorial é uma especialidade direcionada à realização de exames complementares no auxílio ao diagnóstico, com impacto nos diferentes estágios da cadeia de saúde: prevenção, diagnóstico, prognóstico e acompanhamento terapêutico. Diversos elementos apontam para maior utilização da medicina diagnóstica no futuro. Para discutirmos as principais tendências na medicina laboratorial, descrevemos os fatores que colaboram e são fundamentais para o crescimento desse mercado denominados, neste estudo, drivers de crescimento. As principais tendências que terão forte impacto na medicina laboratorial, e que serão descritas neste artigo, são: ferramentas de gestão, inserção de novos testes no mercado e rol de procedimentos, qualidade dos serviços em medicina diagnóstica, modelos de operação, automação, consolidação e integração, tecnologia da informação, medicina personalizada e genética. Sabemos que a medicina diagnóstica demonstra sua importância ao participar de 70 por cento das decisões clínicas, absorvendo uma pequena parte dos custos em saúde (cerca de 10 por cento). Todas as tendências analisadas neste trabalho apontam para um crescimento na utilização dos exames laboratoriais e também para sua importância na cadeia de saúde. Esse novo posicionamento, somado às novas expectativas de alta resolubilidade, pressiona o mercado e as companhias que o compõem a buscar mudanças e novas estratégias de atuação.
Clinical pathology/laboratory medicine, a specialty focused on performing complementary tests to aid diagnosis, has impact upon several stages of health care: prevention, diagnosis, prognosis, and therapeutic management. There are several factors that will foster the use of laboratory medicine in the future. In order to discuss the main trends in laboratory medicine, this article describes the major factors that have promoted growth in this market, which herein are referred to as growth drivers. The major trends that will cause substantial impact on laboratory medicine are: management tools, inclusion of new tests and procedures, service quality, operational models, automation, consolidation and integration, information technology, personalized and genetic medicine. Laboratory medicine occupies a pivotal role in 70 percent of all clinical decisions with minimal healthcare costs of approximately 10 percent. All trends discussed herein sustain an increase in the use of laboratory tests as well as its importance in health care. Both this new model and the expectation of optimal solutions have led the market to search for changes and new management strategies.
Automation, Laboratory , Clinical Laboratory Techniques , Pathology, Clinical/trends
Nas últimas décadas, a introdução da automação na medicina laboratorial foi destacada como a espinha dorsal na busca de eficiência e viabilidade das empresas atuantes nesse setor e expandiu-se em todas as fases dos processos no laboratório clínico: pré-analítica, analítica e pós-analítica. A implementação de um processo de automação laboratorial deve levar em consideração o posicionamento estratégico da empresa e sua forma de atuação. Diferentes modelos de processos automatizados funcionam para diferentes negócios, definidos pelo mix de exames, volume de processamento, atributos estratégicos necessários, capacidade de investimento, entre outros. Este artigo tem como principal objetivo apresentar uma breve revisão dos processos automatizados disponíveis em medicina laboratorial.
In the last decades, the introduction of automation in laboratory medicine has played a major role in the search for efficiency and viability promoted by enterprises from this sector. Additionally, it has been expanded to all phases and processes within clinical laboratories: pre-analytical, analytical and post-analytical. Automation program implementation must take into account the company's strategic planning and business approach. Different automated processes cater for different business platforms, which are defined by test mix, workflow volume, required strategic characteristics, investment capacity, among others. This article aims at briefly reviewing the automation processes available in laboratory medicine.
A medicina diagnóstica é, hoje, um conglomerado de especialidades direcionadas à realização de exames complementares no auxílio ao diagnóstico. A maior competitividade do mercado fez com que os gestores realizassem os denominados trade offs entre diferentes fatores estratégicos de produção - qualidade, confiabilidade, flexibilidade, velocidade e custo -, com o objetivo de definir o posicionamento ante a contribuição da área de produção para a organização. A determinação dos fatores escolhidos, diante das expectativas dos clientes e de um benchmarking com a concorrência, analisados de forma sistemática, define o posicionamento estratégico da organização. Para sedimentar os conceitos defendidos neste artigo, uma simulação de um caso de definição da estratégia da área de produção é apresentada.
Diagnostic Medicine is currently a pool of medical specialties oriented to conduct complementary tests for clinical diagnostics. The higher market competitiveness has led management teams to make trade offs among strategic factors such as quality, reliability, flexibility, velocity and costs with the aim to define the contribution of the production area to the company. The determination of these factors based on clients' expectations, benchmarking and subject to systematical analysis define the company strategy. The simulation of a production area strategy planning is presented to demonstrate the concepts discussed in this article.
Humans , Health Management , Quality Indicators, Health Care , Health Strategies , Diagnostic Techniques and Procedures
