Personal genomic information management and personalized medicine: challenges, current solutions, and roles of HIM professionals.

In recent years, the term personalized medicine has received more and more attention in the field of healthcare. The increasing use of this term is closely related to the astonishing advancement in DNA sequencing technologies and other high-throughput biotechnologies. A large amount of personal genomic data can be generated by these technologies in a short time. Consequently, the needs for managing, analyzing, and interpreting these personal genomic data to facilitate personalized care are escalated. In this article, we discuss the challenges for implementing genomics-based personalized medicine in healthcare, current solutions to these challenges, and the roles of health information management (HIM) professionals in genomics-based personalized medicine.

[1]  Ø. Ekeberg,et al.  Suicide risk in cancer patients from 1960 to 1999. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[2]  Rohan Williams,et al.  The influence of genetic variation on gene expression. , 2007, Genome research.

[3]  Vincent Ferretti,et al.  Clinical genomics information management software linking cancer genome sequence and clinical decisions. , 2013, Genomics.

[4]  Paul Theodor Pyl,et al.  The Genomic and Transcriptomic Landscape of a HeLa Cell Line , 2013, G3: Genes, Genomes, Genetics.

[5]  Xiaohui Xie,et al.  Sequence analysis Human genomes as email attachments , 2022 .

[6]  F. Collins,et al.  The Human Genome Project: Lessons from Large-Scale Biology , 2003, Science.

[7]  Joshua R. Vest,et al.  Health information exchange: persistent challenges and new strategies , 2010, J. Am. Medical Informatics Assoc..

[8]  E. Feldman,et al.  The Genetic Information Nondiscrimination Act (GINA): Public Policy and Medical Practice in the Age of Personalized Medicine , 2011, Journal of General Internal Medicine.

[9]  E. Mardis Next-generation sequencing platforms. , 2013, Annual review of analytical chemistry.

[10]  Muin J Khoury,et al.  Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time , 2011, Genetics in Medicine.

[11]  Erika Check Hayden,et al.  Privacy protections: The genome hacker , 2013, Nature.

[12]  C. McBride,et al.  Too Many Referrals of Low-Risk Women for BRCA1/2 Genetic Services by Family Physicians , 2008, Cancer Epidemiology Biomarkers & Prevention.

[13]  Jeanette J McCarthy,et al.  Genomic Medicine: A Decade of Successes, Challenges, and Opportunities , 2013, Science Translational Medicine.

[14]  Konrad J Karczewski The future of genomic medicine is here , 2013, Genome Biology.

[15]  George Church Improving genome understanding. , 2013, Nature.

[16]  T. Furey ChIP – seq and beyond : new and improved methodologies to detect and characterize protein – DNA interactions , 2012 .

[17]  Alexander A. Morgan,et al.  Clinical assessment incorporating a personal genome , 2010, The Lancet.

[18]  K. Fulda,et al.  Ethical issues in predictive genetic testing: a public health perspective , 2006, Journal of Medical Ethics.

[19]  Surendra Kumar,et al.  BLAST output visualization in the new sequencing era , 2014, Briefings Bioinform..

[20]  M. Bhagwat,et al.  Searching NCBI's dbSNP Database , 2010, Current protocols in bioinformatics.

[21]  N. Singh,et al.  Dental and periodontal health status of Beta thalassemia major and sickle cell anemic patients: a comparative study. , 2013, Journal of international oral health : JIOH.

[22]  J. Zou,et al.  Tracing the Transcriptomic Changes in Synthetic Trigenomic allohexaploids of Brassica Using an RNA-Seq Approach , 2013, PloS one.

[23]  Muin J. Khoury,et al.  Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations , 2009, Bioinform..

[24]  Kensaku Kawamoto,et al.  Bmc Medical Informatics and Decision Making a National Clinical Decision Support Infrastructure to Enable the Widespread and Consistent Practice of Genomic and Personalized Medicine , 2009 .

[25]  M. Sharp,et al.  Redefining the roles of health information management professionals in health information technology. , 2009, Perspectives in health information management.

[26]  Jun Wang,et al.  Whole genome DNA methylation analysis based on high throughput sequencing technology. , 2010, Methods.

[27]  Laurie D. Smith,et al.  Testing Children for Adult-Onset Genetic Diseases , 2012, Pediatrics.

[28]  M. W. Foster,et al.  The role of community review in evaluating the risks of human genetic variation research. , 1999, American journal of human genetics.

[29]  Gregory D. Schuler,et al.  Database resources of the National Center for Biotechnology Information: update , 2004, Nucleic acids research.

[30]  C. McBride,et al.  Patient Physical Characteristics and Primary Care Physician Decision Making in Preconception Genetic Screening , 2009, Public Health Genomics.

[31]  Michael J. Becich,et al.  Next generation sequencing in clinical medicine: Challenges and lessons for pathology and biomedical informatics , 2012, Journal of pathology informatics.

[32]  Hong Yu,et al.  An examination of the OMIM database for associating mutation to a consensus reference sequence , 2012, Protein & Cell.

[33]  E. Clayton Ethical, legal, and social implications of genomic medicine. , 2003, The New England journal of medicine.

[34]  L. Dressler Integrating personalized genomic medicine into routine clinical care: addressing the social and policy issues of pharmacogenomic testing. , 2013, North Carolina medical journal.

[35]  Robert C. Green,et al.  Clinical Genome Sequencing , 2013 .

[36]  I. Wiechers,et al.  The emergence of commercial genomics: analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990 to 2004 , 2013, Genome Medicine.

[37]  A. Mortazavi,et al.  Computation for ChIP-seq and RNA-seq studies , 2009, Nature Methods.

[38]  P. Lane Sickle cell disease. , 1996, Pediatric clinics of North America.

[39]  J. Witte,et al.  The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop , 2009, Genetics in Medicine.

[40]  D. Veenstra,et al.  Managed care in the genomics era: assessing the cost effectiveness of genetic tests. , 2003, The American journal of managed care.

[41]  Emerging genomic technologies and the concept of personalized medicine: An overview of ethical, legal and social implications , 2008, Cell cycle.

[42]  Russ B. Altman,et al.  Clinical evaluation incorporating a personal genome , 2010 .

[43]  Brecht Claerhout,et al.  Privacy protection for clinical and genomic data: The use of privacy-enhancing techniques in medicine , 2005, Int. J. Medical Informatics.

[44]  Rm,et al.  Sickle cell disease , 1996 .

[45]  E. Myers,et al.  Basic local alignment search tool. , 1990, Journal of molecular biology.

[46]  Bernd Rinn,et al.  openBIS: a flexible framework for managing and analyzing complex data in biology research , 2011, BMC Bioinformatics.

[47]  Peter D. Newell,et al.  A Small-Group Activity Introducing the Use and Interpretation of BLAST † , 2013, Journal of microbiology & biology education.

[48]  Ben Adida,et al.  GenePING: secure, scalable management of personal genomic data , 2006, BMC Genomics.

[49]  Geoffrey S. Ginsburg,et al.  The Personalized Medicine Coalition , 2005, American journal of pharmacogenomics : genomics-related research in drug development and clinical practice.

[50]  Bin Ma,et al.  DNACompress: fast and effective DNA sequence compression , 2002, Bioinform..

[51]  Jay Shendure,et al.  The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line , 2013, Nature.

[52]  W. Burke,et al.  Ethical issues arising from the participation of children in genetic research. , 2006, The Journal of pediatrics.

[53]  F. Collins,et al.  First FDA authorization for next-generation sequencer. , 2013, The New England journal of medicine.

[54]  D. Mozaffarian,et al.  Heart disease and stroke statistics--2012 update: a report from the American Heart Association. , 2012, Circulation.

[55]  B. Mishara Suicide, euthanasia and AIDS. , 1998, Crisis.

[56]  Richard K. Wilson,et al.  Challenges of sequencing human genomes , 2010, Briefings Bioinform..

[57]  Sanjay Tyagi,et al.  Interactions between the FTO and GNB3 Genes Contribute to Varied Clinical Phenotypes in Hypertension , 2013, PloS one.

[58]  Laura Bonetta,et al.  Whole-Genome Sequencing Breaks the Cost Barrier , 2010, Cell.

[59]  Donald A B Lindberg Biomedical informatics: precious scientific resource and public policy dilemma. , 2003, Transactions of the American Clinical and Climatological Association.

[60]  W. J. Kent,et al.  The UCSC Genome Browser , 2003, Current protocols in bioinformatics.

[61]  Christian R. A. Regenbrecht,et al.  Data management strategies for multinational large-scale systems biology projects , 2012, Briefings Bioinform..

[62]  C. Barash,et al.  Personalized medicine: part 2: ethical, legal, and regulatory issues. , 2010, P & T : a peer-reviewed journal for formulary management.

[63]  Ning Ma,et al.  BLAST: a more efficient report with usability improvements , 2013, Nucleic Acids Res..

[64]  Yulei N. Wang,et al.  The Genomic Analysis of Erythrocyte microRNA Expression in Sickle Cell Diseases , 2008, PloS one.

[65]  Shane J. Neph,et al.  Personal and population genomics of human regulatory variation , 2012, Genome research.

[66]  Clinical implementation of whole genome sequencing a valuable step toward personalized care. , 2013, WMJ : official publication of the State Medical Society of Wisconsin.

[67]  M. Pelias Genetic testing of children for adult-onset diseases: is testing in the child's best interests? , 2006, The Mount Sinai journal of medicine, New York.

[68]  B. Solomon,et al.  Suicide in lung cancer: who is at risk? , 2013, Chest.

[69]  A. McGuire,et al.  Research ethics and the challenge of whole-genome sequencing , 2008, Nature Reviews Genetics.

[70]  Russ B. Altman,et al.  Interpretome: A Freely Available, Modular, and Secure Personal Genome Interpretation Engine , 2011, Pacific Symposium on Biocomputing.

[71]  F. Collins,et al.  A vision for the future of genomics research , 2003, Nature.

[72]  Meredith Wadman,et al.  James Watson's genome sequenced at high speed , 2008, Nature.

[73]  Martin Kircher,et al.  High‐throughput DNA sequencing – concepts and limitations , 2010, BioEssays : news and reviews in molecular, cellular and developmental biology.

[74]  Erik Larsson,et al.  Hypertension and Genetic Variation in Endothelial-Specific Genes , 2013, PloS one.

[75]  Leming Zhou,et al.  Flexible approaches for teaching computational genomics in a health information management program. , 2013, Perspectives in health information management.