Title |
ClinGen — The Clinical Genome Resource
|
---|---|
Published in |
New England Journal of Medicine, May 2015
|
DOI | 10.1056/nejmsr1406261 |
Pubmed ID | |
Authors |
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum, Sharon E Plon, Erin M Ramos, Stephen T Sherry, Michael S Watson |
Abstract |
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient's family pursues genetic testing that shows a "likely pathogenic" variant for the condition on the basis of a study in an original research publication. Given the dominant inheritance of the condition and the risk of sudden cardiac death, other family members are tested for the genetic variant to determine their risk. Several family members test negative and are told that they are not at risk for hypertrophic cardiomyopathy and sudden cardiac death, and those who test positive are told that they need to be regularly monitored for cardiomyopathy . . . |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 29 | 37% |
Saudi Arabia | 6 | 8% |
United Kingdom | 5 | 6% |
Colombia | 2 | 3% |
Brazil | 2 | 3% |
Spain | 2 | 3% |
Italy | 2 | 3% |
Congo | 1 | 1% |
Venezuela, Bolivarian Republic of | 1 | 1% |
Other | 2 | 3% |
Unknown | 26 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 41 | 53% |
Scientists | 25 | 32% |
Practitioners (doctors, other healthcare professionals) | 11 | 14% |
Science communicators (journalists, bloggers, editors) | 1 | 1% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 11 | 2% |
United Kingdom | 6 | <1% |
Canada | 2 | <1% |
Spain | 2 | <1% |
Korea, Republic of | 1 | <1% |
France | 1 | <1% |
United Arab Emirates | 1 | <1% |
Luxembourg | 1 | <1% |
Unknown | 594 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 123 | 20% |
Student > Ph. D. Student | 100 | 16% |
Other | 58 | 9% |
Student > Master | 54 | 9% |
Student > Doctoral Student | 38 | 6% |
Other | 111 | 18% |
Unknown | 135 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 182 | 29% |
Medicine and Dentistry | 110 | 18% |
Agricultural and Biological Sciences | 86 | 14% |
Computer Science | 22 | 4% |
Immunology and Microbiology | 9 | 1% |
Other | 50 | 8% |
Unknown | 160 | 26% |