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Mineração de dados identifica pistas genéticas para doenças



-----Mensagem original-----
De: SBIS-News@yahoogrupos.com.br [mailto:SBIS-News@yahoogrupos.com.br] Em nome de Renato M.E. Sabbatini, PhD
Enviada em: quarta-feira, 27 de abril de 2011 06:56
Para: SBIS-News@yahoogrupos.com.br
Assunto: [SBIS-News] Mineração de dados do PEP identifica pistas genéticas para doenças

Resumo: O recrutamento de milhares de pacientes para coletar dados de 
saúde para indícios genéticos de uma doença é caro e demorado, mas pode 
ser mais rápido e mais barato quando se usa a técnica de mineração de 
dados existentes nos registros médicos eletrônicos, de acordo com nova 
pesquisa da Northwestern University nos EUA. Neste estudo, usando as 
informações de pacientes em PEPs com consultas médicas de rotina em 
cinco hospitais permitiram aos pesquisadores identificar corretamente 
pacientes com cinco tipos de doenças: diabetes tipo 2, demência, doença 
arterial periférica, cataratas e arritmias cardíacas. Foi obtida 
precisão de 73 a 98%. As instituições que participaram do estudo fazem 
parte de um consórcio chamado Electronic Medical Records and Genomics 
Network.
Fonte: http://www.sciencedaily.com/releases/2011/04/110420143654.htm
Resumo por Renato M.E. Sabbatini

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Mining Data from Electronic Records: Faster Way to Get Genetic Clues to 
Disease

ScienceDaily (Apr. 20, 2011) - Recruiting thousands of patients to 
collect health data for genetic clues to disease is expensive and time 
consuming. But that arduous process of collecting data for genetic 
studies could be faster and cheaper by instead mining patient data that 
already exists in electronic medical records, according to new 
Northwestern Medicine research.

In the study, researchers were able to cull patient information in 
electronic medical records from routine doctors' visits at five national 
sites that all used different brands of medical record software. The 
information allowed researchers to accurately identify patients with 
five kinds of diseases or health conditions -- type 2 diabetes, 
dementia, peripheral arterial disease, cataracts and cardiac conduction.

"The hard part of doing genetic studies has been identifying enough 
people to get meaningful results," said lead investigator Abel Kho, 
M.D., an assistant professor of medicine at Northwestern University 
Feinberg School of Medicine and a physician at Northwestern Memorial 
Hospital. "Now we've shown you can do it using data that's already been 
collected in electronic medical records and can rapidly generate large 
groups of patients."

The paper is published April 20 in Science Translational Medicine.

To identify the diseases, Kho and colleagues searched the records using 
a series of criteria such as medications, diagnoses and laboratory 
tests. They then tested their results against the gold standard -- 
review by physicians. The physicians confirmed the results, Kho said. 
The electronic health records allowed researchers to identify patients' 
diseases with 73 to 98 percent accuracy.

The researchers also were able to reproduce previous genetic findings 
from prospective studies using the electronic medical records. The five 
institutions that participated in the study collected genetic samples 
for research. Patients agreed to the use of their records for studies.

Sequencing individuals' genomes is becoming faster and cheaper. It soon 
may be possible to include patients' genomes in their medical records, 
Kho noted. This would create a bountiful resource for genetic research.

"With permission from patients, you could search electronic health 
records at not just five sites but 25 or 100 different sites and 
identify 10,000 or 100,000 patients with diabetes, for example," Kho said.

The larger the group of patients for genetic studies, the better the 
ability to detect rarer affects of the genes and the more detailed 
genetic sequences that cause a person to develop a disease.

The study also showed across-the-board weaknesses in institutions' 
electronic medical records. The institutions didn't do a good job of 
capturing race and ethnicity, smoking status and family history, all 
which are important areas of study, Kho said. "It shows we need to focus 
our efforts to use electronic medical records more meaningfully," he added.

The institutions participating in the study are part of a consortium 
called the Electronic Medical Records and Genomics Network.

The research was supported by the National Human Genome Research 
Institute with additional funding from the National Institute of General 
Medical Sciences.

1. A. N. Kho, J. A. Pacheco, P. L. Peissig, L. Rasmussen, K. M. Newton, 
N. Weston, P. K. Crane, J. Pathak, C. G. Chute, S. J. Bielinski, I. J. 
Kullo, R. Li, T. A. Manolio, R. L. Chisholm, J. C. Denny. Electronic 
Medical Records for Genetic Research: Results of the eMERGE Consortium. 
Science Translational Medicine, 2011; 3 (79): 79re1 DOI: 
10.1126/scitranslmed.3001807
http://stm.sciencemag.org/content/3/79/79re1




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