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Pediatrics. 2019 Jan;143(Suppl 1):S44-S53. doi: 10.1542/peds.2018-1099I.

Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.

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San Diego State University/University of California San Diego Joint Doctoral Program in Clinical Psychology, San Diego, CA.
Qualcomm Institute of Calit2, La Jolla, CA.
Scripps Genomic Medicine Division, Scripps Translational Science Institute, Scripps Health, La Jolla, CA.
Department of Integrative Structural and Computational Biology, Scripps Research, La Jolla, CA; and.
Department of Family Medicine and Public Health, University of California San Diego, La Jolla, CA



The availability of whole genome sequencing (WGS) is increasing in clinical care, and WGS is a promising tool in diagnostic odyssey cases. Physicians' ability to effectively communicate genomic information with patients, however, is unclear. In this multiperspective study, we assessed physicians' communication of patient genome sequencing information in a diagnostic odyssey case series.


We evaluated physician communication of genome sequencing results in the context of an ongoing study of the utility of WGS for the diagnosis of rare and idiopathic diseases. A modified version of the Medical Communication Competence Scale was used to compare patients' ratings of their physicians' communication of general medical information to communication of genome sequencing information. Physician self-ratings were also compared with patient ratings.


A total of 47 patients, parents, and physicians across 11 diagnostic odyssey cases participated. In 6 of 11 cases (54%), the patient respondent rated the physician's communication of genome sequencing information as worse than that of general medical information. In 9 of 11 cases (82%), physician self-ratings of communication of genome sequencing information were worse than the patient respondent's rating. Identification of a diagnosis via WGS was positively associated with physician self-ratings (P = .021) but was not associated with patient respondent ratings (P = .959).


These findings reveal that even in diagnostic odyssey cases, in which genome sequencing may be clinically beneficial, physicians may not be well-equipped to communicate genomic information to patients. Future studies may benefit from multiperspective approaches to assessing and understanding physician-patient communication of genome-sequencing information.


Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

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