Faculty Bibliography

PURPOSE:Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS. METHODS:PubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients. Articles were classified according to sample size and whether economic evaluation was a primary research objective. Data on patient characteristics, clinical setting, and outcomes were extracted and narratively synthesized. RESULTS:Of 171 included articles, 131 were case reports, 40 were aggregate analyses, and 4 had a primary economic evaluation aim. Diagnostic yield was the only consistently reported outcome. Median diagnostic yield in aggregate analyses was 33.2% but varied by broad clinical categories and test type. CONCLUSION:Reported CGS use has rapidly increased and spans diverse clinical settings and patient phenotypes. Economic evaluations support the cost-saving potential of diagnostic CGS. Multidisciplinary implementation research, including more robust outcome measurement and economic evaluation, is needed to demonstrate clinical utility and cost-effectiveness of CGS.

BACKGROUND:Patient engagement is challenging to define and operationalize. Qualitative analysis allows us to explore patient perspectives on this topic and establish themes. A game theoretic signaling model also provides a framework through which to further explore engagement. METHODS:Over a 6-mo period, thirty-eight interviews were conducted within 6 wk of discharge in patients undergoing thyroid, parathyroid, or colorectal surgery. Interviews were transcribed, anonymized, and analyzed using the NVivo 11 platform. A signaling model was then developed depicting the doctor-patient interaction surrounding the patient's choice to reach out to their physician with postoperative concerns based upon the patient's perspective of the doctor's availability. This was defined as "engagement". We applied the model to the qualitative data to determine possible causations for a patient's engagement or lack thereof. A private hospital's and a safety net hospital's populations were contrasted. RESULTS:The private patient population was more likely to engage than their safety-net counterparts. Using our model in conjunction with patient data, we determined possible etiologies for this engagement to be due to the private patient's perceived probability of dealing with an available doctor and apparent signals from the doctor indicating so. For the safety-net population, decreased access to care caused them to be less willing to engage with a doctor perceived as possibly unavailable. CONCLUSIONS:A physician who understands these Game Theory concepts may be able to alter their interactions with their patients, tailoring responses and demeanor to fit the patient's circumstances and possible barriers to engagement.