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.
Pediatrics. 2019 Jan;143(Suppl 1):S44-S53. doi: 10.1542/peds.2018-1099I.
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 ( = .021) but was not associated with patient respondent ratings ( = .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.
全基因组测序（WGS）在临床护理中的应用越来越广泛，WGS 是诊断探索病例中很有前途的工具。然而，医生是否有能力有效地将基因组信息传达给患者尚不清楚。在这项多视角研究中，我们评估了医生在诊断探索病例系列中传达患者基因组测序信息的能力。
我们在一项正在进行的研究中评估了医生在 WGS 对罕见和特发性疾病的诊断效用方面的沟通情况，该研究使用了改良版的医学沟通能力量表来比较患者对医生传达一般医学信息和基因组测序信息的沟通能力的评价。还比较了医生的自我评估与患者的评估。
共有 47 名患者、父母和 11 例诊断探索病例中的医生参与了研究。在 11 例中的 6 例（54%）中，患者对医生沟通基因组测序信息的评价比沟通一般医学信息的评价差。在 11 例中的 9 例（82%）中，医生对自己沟通基因组测序信息的评价比患者的评价差。通过 WGS 确定诊断与医生的自我评估呈正相关（ =.021），但与患者的评价无关（ =.959）。
这些发现表明，即使在诊断探索病例中，WGS 可能具有临床益处，医生也可能无法很好地向患者传达基因组信息。未来的研究可能受益于多视角方法来评估和理解医生与患者之间的基因组测序信息沟通。
