| Title |
Emergency medical genomes: a breakthrough application of precision medicine
|
|---|---|
| Published in |
Genome Medicine, July 2015
|
| DOI | 10.1186/s13073-015-0201-z |
| Pubmed ID | |
| Authors |
Stephen F. Kingsmore, Josh Petrikin, Laurel K. Willig, Erin Guest |
| Abstract |
Today there exist two medical applications where relatively strong evidence exists to support the broad adoption of genome-informed precision medicine. These are the differential diagnosis of single gene diseases and genotype-based selection of patients for targeted cancer therapies. However, despite the availability of the $1000 genome and $700 exome for research, there is as yet little broad uptake of genomic medicine, even in these applications. Significant impediments to mainstream adoption exist, including unavailability in many institutions, lack of scalability in others, a dearth of physician understanding of interpreted genome or exome results or knowledge of how to translate consequent precision medicine care plans, and a lack of test reimbursement. In short, genomic medicine lacks a breakthrough application. Rapid genome sequencing of acutely ill infants with suspected genetic diseases (STATseq) may become that application when scaled to dozens of trios per day without loss of timeliness or accuracy. Also critical for broad adoption is embedding STATseq in software for timely patient ascertainment, augmented intelligence for interpretation, explanation of results for generalist physicians, and dynamic precision medicine decision support. |
X Demographics
The data shown below were collected from the profiles of 47 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 | 16 | 34% |
| United Kingdom | 5 | 11% |
| France | 2 | 4% |
| Germany | 2 | 4% |
| Australia | 2 | 4% |
| Spain | 2 | 4% |
| Canada | 2 | 4% |
| Netherlands | 1 | 2% |
| Argentina | 1 | 2% |
| Other | 1 | 2% |
| Unknown | 13 | 28% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 26 | 55% |
| Scientists | 19 | 40% |
| Practitioners (doctors, other healthcare professionals) | 2 | 4% |
Mendeley readers
The data shown below were compiled from readership statistics for 73 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 1% |
| Unknown | 72 | 99% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 15 | 21% |
| Other | 10 | 14% |
| Student > Master | 8 | 11% |
| Student > Ph. D. Student | 6 | 8% |
| Professor | 4 | 5% |
| Other | 11 | 15% |
| Unknown | 19 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 15 | 21% |
| Medicine and Dentistry | 14 | 19% |
| Agricultural and Biological Sciences | 10 | 14% |
| Computer Science | 5 | 7% |
| Nursing and Health Professions | 2 | 3% |
| Other | 6 | 8% |
| Unknown | 21 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 34. 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 17 August 2018.
All research outputs
#1,194,211
of 25,446,666 outputs
Outputs from Genome Medicine
#238
of 1,589 outputs
Outputs of similar age
#14,783
of 275,142 outputs
Outputs of similar age from Genome Medicine
#6
of 40 outputs
Altmetric has tracked 25,446,666 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,589 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 26.7. This one has done well, scoring higher than 85% of its peers.
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We're also able to compare this research output to 40 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.