| Title |
Recommendations for the integration of genomics into clinical practice
|
|---|---|
| Published in |
Genetics in Medicine, May 2016
|
| DOI | 10.1038/gim.2016.17 |
| Pubmed ID | |
| Authors |
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P. Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T. Bjornsson, Miriam Blitzer, Lisa C.A. D’Alessandro, Matthew A. Deardorff, Laurie Demmer, Alison Elliott, Gerald L. Feldman, Ian A. Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne Hudgins, A. Micheil Innes, Laird Jackson, Gail Jarvik, Raymond Kim, Bruce Korf, David H. Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M. Stephen Meyn, Nasim Monfared, Cynthia Morton, John J. Mulvihill, Sharon E. Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B. Spinner, D. James Stavropoulos, Kathleen Valverde, Darrel J. Waggoner, Alisha Wilkens, Ronald D. Cohn, Ian D. Krantz |
| Abstract |
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients. With the increasing application of CGES, it is necessary for geneticists and other health-care providers to understand its benefits and limitations in order to interpret the clinical relevance of genomic variants identified in the context of health and disease. New, collaborative working relationships with specialists across diverse disciplines (e.g., clinicians, laboratorians, bioinformaticians) will undoubtedly be key attributes of the future practice of clinical genetics and may serve as an example for other specialties in medicine. These new skills and relationships will also inform the development of the future model of clinical genetics training curricula. To address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine, two Clinical Genetics Think Tank meetings were held that brought together physicians, laboratorians, scientists, genetic counselors, trainees, and patients with experience in clinical genetics, genetic diagnostics, and genetics education. This article provides recommendations that will guide the integration of genomics into clinical practice.Genet Med advance online publication 12 May 2016Genetics in Medicine (2016); doi:10.1038/gim.2016.17. |
X Demographics
The data shown below were collected from the profiles of 45 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 | 10 | 22% |
| United Kingdom | 4 | 9% |
| Israel | 3 | 7% |
| Canada | 2 | 4% |
| Saudi Arabia | 1 | 2% |
| Netherlands | 1 | 2% |
| Belgium | 1 | 2% |
| Argentina | 1 | 2% |
| Singapore | 1 | 2% |
| Other | 4 | 9% |
| Unknown | 17 | 38% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 24 | 53% |
| Scientists | 18 | 40% |
| Practitioners (doctors, other healthcare professionals) | 2 | 4% |
| Science communicators (journalists, bloggers, editors) | 1 | 2% |
Mendeley readers
The data shown below were compiled from readership statistics for 256 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | <1% |
| United States | 2 | <1% |
| France | 1 | <1% |
| Norway | 1 | <1% |
| Brazil | 1 | <1% |
| Colombia | 1 | <1% |
| Canada | 1 | <1% |
| Italy | 1 | <1% |
| Unknown | 246 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 39 | 15% |
| Other | 31 | 12% |
| Student > Master | 26 | 10% |
| Student > Bachelor | 24 | 9% |
| Student > Ph. D. Student | 23 | 9% |
| Other | 59 | 23% |
| Unknown | 54 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 60 | 23% |
| Biochemistry, Genetics and Molecular Biology | 57 | 22% |
| Agricultural and Biological Sciences | 33 | 13% |
| Computer Science | 9 | 4% |
| Engineering | 6 | 2% |
| Other | 31 | 12% |
| Unknown | 60 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 85. 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 13 December 2019.
All research outputs
#500,266
of 25,374,917 outputs
Outputs from Genetics in Medicine
#122
of 2,943 outputs
Outputs of similar age
#9,436
of 326,216 outputs
Outputs of similar age from Genetics in Medicine
#3
of 46 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,943 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one has done particularly well, scoring higher than 95% of its peers.
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We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 93% of its contemporaries.