Combining health records and genome sequencing for precision medicine
Public Health Genomics Knowledge Base (v1.2)
Last Posted: Jan-06-2017 0PM
Last Posted: Jan 05, 2017
- Combining health records and genome sequencing for precision medicine
J. Harris, PHG Foundation, January 4, 2017
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey Frederick E et al. Science (New York, N.Y.) 2016 Dec 354(6319)
- Bridging the Gap from Bench to Bedside--An Informatics Infrastructure for Integrating Clinical, Genomics and Environmental Data (ICGED).
et al. Studies in health technology and informatics 2015 2161054
- The Application of Genomics in Diabetes: Barriers to Discovery and Implementation.
Floyd James S et al. Diabetes care 2016 Nov 39(11) 1858-1869
- Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He Karen Y et al. PloS one 2016 11(12) e0167847
- Increasing the Detection of FH Using General Practice Electronic Databases.
Vickery Alistair W et al. Heart, lung & circulation 2016 Nov
- The power of big data must be harnessed for medical progress.
et al. Nature 2016 Nov 539(7630) 467-468
- Integrating pharmacogenomics into electronic health records with clinical decision support.
Hicks J Kevin et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2016 Dec 73(23) 1967-1976
- Text Mining for Precision Medicine: Bringing Structure to EHRs and Biomedical Literature to Understand Genes and Health.
Simmons Michael et al. Advances in experimental medicine and biology 2016 939139-166
- A primer on precision medicine informatics.
Sboner Andrea et al. Briefings in bioinformatics 2016 Jan 17(1) 145-53
- Integrating cancer genomic data into electronic health records.
Warner Jeremy L et al. Genome medicine 2016 Oct 8(1) 113
- Advanced Big Data Analytics for -Omic Data and Electronic Health Records: Toward Precision Medicine.
Wu Po-Yen et al. IEEE transactions on bio-medical engineering 2016 Oct
- Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies.
Knickelbine Thomas et al. Journal of clinical lipidology 10(5) 1182-7
- Privacy: The myth of anonymity.
Savage Neil et al. Nature 2016 537(7619) S70-2
- Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.
Heale Bret S E et al. Applied clinical informatics 2016 7(3) 817-31
- Opportunities for community awareness platforms in personal genomics and bioinformatics education.
Bianchi Lucia et al. Briefings in bioinformatics 2016 Aug
From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
- NIOSH and Electronic Health Records
- Including Work Information in Electronic Health Records
- Early Hearing Detection and Intervention and Electronic Health Records Technology
- Electronic Health Records: What's in it for Everyone?
- Meaningful Use of Electronic Health Records
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- Translational research is a key to nongeneticist physicians' genomics education.
Feero W Gregory et al. Genet. Med. 2014 Dec 16(12) 871-3
- A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians.
Scheuner Maren T et al. Genet. Med. 2014 Jan 16(1) 60-9
- Testing the feasibility of a National Spina Bifida Patient Registry.
Thibadeau Judy K et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2013 Jan 97(1) 36-41
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Prevention Status Reports: Heart Disease and Stroke [PDF 133.98 KB] Texas, 2013
[Disease: Stroke|Heart Disease|Familial Hypercholesterolemia; Type: Data|Policy|Program; State: Texas]
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Epidermal Growth Factor Receptor Mutational Testing and Erlotinib Treatment Among Veterans Diagnosed With Lung Cancer in the United States Department of Veterans Affairs.
Clinical lung cancer 2016 Dec .
Lynch Julie A, Berse Brygida, Chun Danielle, Rivera Donna, Filipski Kelly K, Kulich Scott, Viernes Benjamin, DuVall Scott L, Kelley Michael
- A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.
PLoS genetics 2016 Oct 12 (10): e1006371.
Hoffmann Thomas J, Keats Bronya J, Yoshikawa Noriko, Schaefer Catherine, Risch Neil, Lustig Lawrence
- Evidence for extensive pleiotropy among pharmacogenes.
Pharmacogenomics 2016 Jun 0.
Oetjens Matthew T, Bush William S, Denny Joshua C, Birdwell Kelly, Kodaman Nuri, Verma Anurag, Dilks Holli H, Pendergrass Sarah A, Ritchie Marylyn D, Crawford Dana
- Unravelling the human genome-phenome relationship using phenome-wide association studies.
Nature reviews. Genetics 2016 Mar 17 (3): 129-45.
Bush William S, Oetjens Matthew T, Crawford Dana
- Breast cancer multigene testing trends and impact on chemotherapy use.
The American journal of managed care 2016 22 (5): e153-60.
Ray G Thomas, Mandelblatt Jeanne, Habel Laurel A, Ramsey Scott, Kushi Lawrence H, Li Yan, Lieu Tracy