| Title |
Developing genomic knowledge bases and databases to support clinical management: current perspectives
|
|---|---|
| Published in |
Pharmacogenomics and Personalized Medicine, September 2014
|
| DOI | 10.2147/pgpm.s49904 |
| Pubmed ID | |
| Authors |
Vojtech Huser, Murat Sincan, James J Cimino |
| Abstract |
Personalized medicine, the ability to tailor diagnostic and treatment decisions for individual patients, is seen as the evolution of modern medicine. We characterize here the informatics resources available today or envisioned in the near future that can support clinical interpretation of genomic test results. We assume a clinical sequencing scenario (germline whole-exome sequencing) in which a clinical specialist, such as an endocrinologist, needs to tailor patient management decisions within his or her specialty (targeted findings) but relies on a genetic counselor to interpret off-target incidental findings. We characterize the genomic input data and list various types of knowledge bases that provide genomic knowledge for generating clinical decision support. We highlight the need for patient-level databases with detailed lifelong phenotype content in addition to genotype data and provide a list of recommendations for personalized medicine knowledge bases and databases. We conclude that no single knowledge base can currently support all aspects of personalized recommendations and that consolidation of several current resources into larger, more dynamic and collaborative knowledge bases may offer a future path forward. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | 3% |
| Germany | 1 | 1% |
| Finland | 1 | 1% |
| Korea, Republic of | 1 | 1% |
| Mexico | 1 | 1% |
| Spain | 1 | 1% |
| Unknown | 61 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 14 | 21% |
| Researcher | 7 | 10% |
| Student > Bachelor | 7 | 10% |
| Student > Doctoral Student | 6 | 9% |
| Other | 6 | 9% |
| Other | 15 | 22% |
| Unknown | 13 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 19 | 28% |
| Agricultural and Biological Sciences | 13 | 19% |
| Biochemistry, Genetics and Molecular Biology | 8 | 12% |
| Computer Science | 7 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 3% |
| Other | 3 | 4% |
| Unknown | 16 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 12. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 November 2022.
All research outputs
#2,921,955
of 25,748,735 outputs
Outputs from Pharmacogenomics and Personalized Medicine
#1
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Outputs of similar age
#29,421
of 249,477 outputs
Outputs of similar age from Pharmacogenomics and Personalized Medicine
#1
of 1 outputs
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