Personalized genomic disease risk of volunteers

• DOI: 10.1073/pnas.1315934110
• Publication Date: 2013-10-01T06:09:28Z
• Authors: Manuel L. Gonzale...; Amy L. McGuire; Stacey Pereira; C. Thomas Caskey
• Keywords: Adult; Male; 0301 basic medicine; Genetic Diseases, Inborn; Genes, Recessive; Genetic Counseling; Sequence Analysis, DNA; Middle Aged; Medical Records; Pedigree; 3. Good health; 03 medical and health sciences; Patient Education as Topic; Risk Factors; Humans; Female; Alleles; Genes, Dominant

SignificanceReplacing traditional methods for genetic testing of inheritable disorders with next-generation sequencing (NGS) will reduce the cost of genetic testing and increase the information available for the patients. NGS will become an invaluable resource for the patient and physicians, especially if the sequencing information is stored properly and reanalyzed as bioinformatics tools and annotations improve. NGS is still at the early stages of development, and it is full of false-positive and -negative results and requires infrastructure and specialized personnel to properly analyze the results. This paper will explain our experience with an adult population, our bioinformatics analysis, and our clinical decisions to assure that our genetic diagnostics were accurate to detect carrier status and serious medical conditions in our volunteers.