Personalized genomic disease risk of volunteers

Gonzalez-Garay M.L.; McGuire A.L.; Pereira S.Caskey C.T.

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Personalized genomic disease risk of volunteers

机译：Personalized genomic disease risk of volunteers

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Next-generation sequencing (NGS) is commonly used for researching the causes of genetic disorders. However, its usefulness in clinical practice for medical diagnosis is in early development. In this report, we demonstrate the value of NGS for genetic risk assessment and evaluate the limitations and barriers for the adoption of this technology into medical practice. We performed whole exome sequencing (WES) on 81 volunteers, and for each volunteer, we requested personal medical histories, constructed a three-generation pedigree, and required their participation in a comprehensive educational program. We limited our clinical reporting to disease risks based on only rare damaging mutations and known pathogenic variations in genes previously reported to be associated with human disorders. We identified 271 recessive risk alleles (214 genes), 126 dominant risk alleles (101 genes), and 3 X-recessive risk alleles (3 genes). We linked personal disease histories with causative disease genes in 18 volunteers. Furthermore, by incorporating family histories into our genetic analyses, we identified an additional five heritable diseases. Traditional genetic counseling and disease education were provided in verbal and written reports to all volunteers. Our report demonstrates that when genome results are carefully interpreted and integrated with an individual's medical records and pedigree data, NGS is a valuable diagnostic tool for genetic disease risk.

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《Proceedings of the National Academy of Sciences of the United States of America》 |2013年第42期|16957-16962|共6页
作者
Gonzalez-Garay M.L.; McGuire A.L.; Pereira S.Caskey C.T.;
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作者单位

Center for Molecular Imaging, Division of Genomics and Bioinformatics, Brown Foundation Institute of Molecular Medicine, Houston, TX 77030, United States;

Center for Medical Ethics and Health Policy, Department of Medicine and Medical Ethics, United States;

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States;

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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
原文格式 PDF
正文语种英语
中图分类自然科学总论;
关键词
Disease prediction; Molecular medicine; Whole exome sequencing;

Personalized genomic disease risk of volunteers

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