Return of Genome Sequencing Results to Physicians and Patients

There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which health care professional(s) should deliver this information, as well as what types of results should be returned loom large. The aim of the Scripps Idiopathic Diseases of huMan (IDIOM) study is to use genome sequencing to inform diagnosis and treatment of idiopathic diseases. As part of this study, we assess patient and provider preferences surrounding the types of results returned from sequencing, as well as perceptions of the return-of-results communication itself. This is done via semi-structured interviews and standardized questionnaires. Data collected to date suggest that the majority of probands and their parents would prefer, if given the choice, to receive sequencing results for the presenting condition, as well as secondary findings in multiple disease categories (e.g., actionable and non-actionable, childhood and adult-onset). Further, data from the completed return-of-results sessions suggest notable variation in patient satisfaction with communication of results by the referring physician. This includes, in some cases, a marked discrepancy between the extent to which the physician felt results were communicated effectively versus the extent to which the patient perceived the communication to be effective. These case-by-case findings will be discussed in detail. Through the Scripps IDIOM study we have begun collection of empirical data on patient preferences and perceptions regarding return of results from genome sequencing for diagnosis and treatment of idiopathic disease. It is our hope that these data will help inform the development of an effective, sustainable, and cost-effective model of return of individual results from genome sequencing in clinical settings.There has been considerable debate in the scientific and clinical communities regarding the return of results from genome sequencing to physicians and patients. Questions surrounding which health care professional(s) should deliver this information, as well as what types of results should be returned loom large. The aim of the Scripps Idiopathic Diseases of huMan (IDIOM) study is to use genome sequencing to inform diagnosis and treatment of idiopathic diseases. As part of this study, we assess patient and provider preferences surrounding the types of results returned from sequencing, as well as perceptions of the return-of-results communication itself. This is done via semi-structured interviews and standardized questionnaires. Data collected to date suggest that the majority of probands and their parents would prefer, if given the choice, to receive sequencing results for the presenting condition, as well as secondary findings in multiple disease categories (e.g., actionable and non-actionable, childhood and adult-onset). Further, data from the completed return-of-results sessions suggest notable variation in patient satisfaction with communication of results by the referring physician. This includes, in some cases, a marked discrepancy between the extent to which the physician felt results were communicated effectively versus the extent to which the patient perceived the communication to be effective. These case-by-case findings will be discussed in detail. Through the Scripps IDIOM study we have begun collection of empirical data on patient preferences and perceptions regarding return of results from genome sequencing for diagnosis and treatment of idiopathic disease. It is our hope that these data will help inform the development of an effective, sustainable, and cost-effective model of return of individual results from genome sequencing in clinical settings.