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Hum Genet. 2016 Jun;135(6):643-54. doi: 10.1007/s00439-016-1662-x. Epub 2016 Apr 28.

A Clinician's perspective on clinical exome sequencing.

Author information

1
Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Hunnewell 5, Boston, MA, 02115, USA.
2
Broad Institute of Harvard and MIT, Cambridge, MA, USA.
3
Harvard Medical School, Boston, MA, USA.
4
Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave., Hunnewell 5, Boston, MA, 02115, USA. david.miller2@childrens.harvard.edu.
5
Claritas Genomics, Cambridge, MA, USA. david.miller2@childrens.harvard.edu.
6
Harvard Medical School, Boston, MA, USA. david.miller2@childrens.harvard.edu.

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.

PMID:
27126233
DOI:
10.1007/s00439-016-1662-x
[Indexed for MEDLINE]

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