Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

Background More than 1 in 4 Americans report difficulty paying medical bills. Cost-reducing strategies discussed during outpatient physician visits remain poorly characterized. Objective We sought to determine how often patients and physicians discuss healthcare costs during outpatient visits and what strategies, if any, they discussed to lower patient out-of-pocket costs. Design Retrospective analysis of dialogue from 1,755 outpatient visits in community-based practices nationwide from 2010–2014. The study population included 677 patients with breast cancer, 422 with depression, and 656 with rheumatoid arthritis visiting 56 oncologists, 36 psychiatrists, and 26 rheumatologists, respectively. Results Thirty percent of visits contained cost conversations (95% confidence interval [CI], 28 to 32). Forty-four percent of cost conversations involved discussion of cost-saving strategies (95% CI, 40 to 48; median duration, 68 seconds). We identified 4 strategies to lower costs without changing the care plan – in order of overall frequency, (1) Changing logistics of care; (2) Facilitating copay assistance; (3) Providing free samples; (4) Changing/adding insurance plans – and 4 strategies to reduce costs by changing the care plan – (1) Switching to lower-cost alternative therapy/diagnostic; (2) Switching from brand name to generic; (3) Changing dosage/frequency; (4) Stopping/withholding interventions. Strategies were relatively consistent across health conditions, except for switching to lower-cost alternative (more common in breast oncology), and providing free samples (more common in depression). Limitation Focus on three conditions with potentially high out-of-pocket costs. Conclusions Despite price opacity, physicians and patients discuss a variety of out-of-pocket cost reduction strategies during clinic visits. Almost half of cost discussions mention one or more cost-saving strategies, with more frequent mention of those not requiring care-plan changes.

BackgroundNearly one in three Americans are financially burdened by their medical expenses. To mitigate financial distress, experts recommend routine physician-patient cost conversations. However, the content and incidence of these conversations are unclear, and rigorous definitions are lacking. We sought to develop a novel set of cost conversation definitions, and determine the impact of definitional variation on cost conversation incidence in three clinical settings.MethodsRetrospective, mixed-methods analysis of transcribed dialogue from 1,755 outpatient encounters for routine clinical management of breast cancer, rheumatoid arthritis, and depression, occurring between 2010–2014. We developed cost conversation definitions using summative content analysis. Transcripts were evaluated independently by at least two members of our multi-disciplinary team to determine cost conversation incidence using each definition. Incidence estimates were compared using Pearson’s Chi-Square Tests.ResultsThree cost conversation definitions emerged from our analysis: (a) Out-of-Pocket (OoP) Cost -- discussion of the patient’s OoP costs for a healthcare service; (b) Cost/Coverage -- discussion of the patient’s OoP costs or insurance coverage; (c) Cost of Illness-- discussion of financial costs or insurance coverage related to health or healthcare. These definitions were hierarchical; OoP Cost was a subset of Cost/Coverage, which was a subset of Cost of Illness. In each clinical setting, we observed significant variation in the incidence of cost conversations when using different definitions; breast oncology: 16, 22, 24 % of clinic visits contained cost conversation (OOP Cost, Cost/Coverage, Cost of Illness, respectively; P < 0.001); depression: 30, 38, 43 %, (P < 0.001); and rheumatoid arthritis, 26, 33, 35 %, (P < 0.001).ConclusionsThe estimated incidence of physician-patient cost conversation varied significantly depending on the definition used. Our findings and proposed definitions may assist in retrospective interpretation and prospective design of investigations on this topic.Electronic supplementary materialThe online version of this article (doi:10.1186/s12913-016-1353-2) contains supplementary material, which is available to authorized users.