| Title |
A Clinical Decision Support Tool to Predict Cancer Risk for Commonly Tested Cancer‐Related Germline Mutations
|
|---|---|
| Published in |
Journal of Genetic Counseling, March 2018
|
| DOI | 10.1007/s10897-018-0238-4 |
| Pubmed ID | |
| Authors |
Danielle Braun, Jiabei Yang, Molly Griffin, Giovanni Parmigiani, Kevin S. Hughes |
| Abstract |
The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each. Through an extensive literature review, we have identified reliable studies and derived estimates of absolute risk. We have also developed a systematic mechanism and informatics tools for (1) data curation, (2) the evaluation of quality of studies, and (3) the statistical analysis necessary to obtain risk. We produced the risk prediction clinical decision support tool ASK2ME (All Syndromes Known to Man Evaluator). It provides absolute cancer risk predictions for various hereditary cancer susceptibility genes. These predictions are specific to patients' gene carrier status, age, and history of relevant prophylactic surgery. By allowing clinicians to enter patient information and receive patient-specific cancer risks, this tool aims to have a significant impact on the quality of precision cancer prevention and disease management activities relying on panel testing. It is important to note that this tool is dynamic and constantly being updated, and currently, some of its limitations include (1) for many gene-cancer associations risk estimates are based on one study rather than meta-analysis, (2) strong assumptions on prior cancers, (3) lack of uncertainty measures, and (4) risk estimates for a growing set of gene-cancer associations which are not always variant specific. All of these concerns are being addressed on an ongoing basis, aiming to make the tool even more accurate. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 61 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 61 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 16% |
| Student > Ph. D. Student | 7 | 11% |
| Student > Postgraduate | 5 | 8% |
| Student > Master | 5 | 8% |
| Other | 4 | 7% |
| Other | 10 | 16% |
| Unknown | 20 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 15% |
| Biochemistry, Genetics and Molecular Biology | 7 | 11% |
| Agricultural and Biological Sciences | 5 | 8% |
| Nursing and Health Professions | 4 | 7% |
| Social Sciences | 3 | 5% |
| Other | 7 | 11% |
| Unknown | 26 | 43% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 October 2019.
All research outputs
#7,294,326
of 25,263,619 outputs
Outputs from Journal of Genetic Counseling
#452
of 1,282 outputs
Outputs of similar age
#118,777
of 337,764 outputs
Outputs of similar age from Journal of Genetic Counseling
#20
of 49 outputs
Altmetric has tracked 25,263,619 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 1,282 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.0. This one has gotten more attention than average, scoring higher than 63% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 337,764 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 63% of its contemporaries.
We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.