Title |
A Clinician’s perspective on clinical exome sequencing
|
---|---|
Published in |
Human Genetics, April 2016
|
DOI | 10.1007/s00439-016-1662-x |
Pubmed ID | |
Authors |
Anne H. O’Donnell-Luria, David T. Miller |
Abstract |
Clinical exome sequencing has clearly improved our ability as clinicians to identify the cause of a wide variety of disorders. Prior to exome sequencing, a majority of patients with apparent syndromes never received a specific molecular genetic diagnosis despite extensive diagnostic odysseys. Even for those receiving an answer to the question of what caused their disorder, the diagnostic odyssey often spanned years to decades. Determining the particular genetic cause in an individual patient can be challenging due to inherent phenotypic and genetic heterogeneity of disease, technical limitations of testing or both. Blended phenotypes, due to multiple monogenic disorders in the same patient, are true dilemmas for traditional genetic evaluations, but are increasingly being diagnosed through clinical exome sequencing. New sequencing technologies have increased the proportion of patients receiving molecular diagnoses, while significantly shortening the time scale, providing multiple benefits for the health-care team, patient and family. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 6 | 46% |
United States | 1 | 8% |
Argentina | 1 | 8% |
Australia | 1 | 8% |
Unknown | 4 | 31% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 6 | 46% |
Members of the public | 6 | 46% |
Practitioners (doctors, other healthcare professionals) | 1 | 8% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Finland | 1 | 1% |
France | 1 | 1% |
Unknown | 66 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 14 | 21% |
Student > Ph. D. Student | 13 | 19% |
Other | 10 | 15% |
Student > Master | 5 | 7% |
Professor | 4 | 6% |
Other | 13 | 19% |
Unknown | 9 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 21 | 31% |
Medicine and Dentistry | 16 | 24% |
Agricultural and Biological Sciences | 13 | 19% |
Neuroscience | 2 | 3% |
Business, Management and Accounting | 1 | 1% |
Other | 5 | 7% |
Unknown | 10 | 15% |