Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges

Abstract

Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient setting has traditionally been discouraged, in part due to an increased risk of providers failing to retrieve and act upon results, as many patients are discharged before results return. The development of rapid turn‐around‐times (TATs) for genomic testing has begun to shift this paradigm. Rapid exome sequencing (rES) is increasingly being used as a diagnostic tool for critically ill infants with likely genetic disease and presents significant challenges to execute. We implemented a program, entitled the Rapid Inpatient Genomic Testing (RIGhT) project, to identify critically ill children for whom a molecular diagnosis is likely to change inpatient management. Two important goals of the RIGhT project were to provide appropriate genetic counseling, and to develop protocols to ensure efficient test coordination‐ both of which relied heavily on laboratory and clinic‐based genetic counselors (GCs). Here, rES was performed on 27 inpatient trios from October 2016 to August 2018; laboratory and clinical GCs encountered significant challenges in the coordination of this testing. The GCs involved retrospectively reviewed these cases and identified three common challenges encountered during pretest counseling and coordination. The aim of this paper is to define these challenges using illustrative case examples that highlight the importance of including GCs to support rES programs.

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

“…The implications of secondary findings for the individual and other family members also needs discussion before parents decide. As observed previously, some parents preferred to defer decisions on secondary findings, while others opted in so they had the chance to address health concerns [ 30 ]. We also found that parents, particularly those without a diagnosis, may want more information on certain topics, such as which genes had been tested and whether reanalysis would be available to them in the future.…”

“…Additional training is needed alongside support from genetics colleagues for decisions on eligibility, interpretation of results and counselling. A potential role for genetic counsellors in delivering RGS in ICUs has been suggested, as they are well placed to support the information and emotional needs of parents [ 10 , 12 , 30 ], and this should be explored as we deliver RGS in the UKs Genomic Medicine Service.…”

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors

“…Stark et al found similar results in a study of Australian critical care providers who strongly preferred that rapid genomic testing in the acute pediatric setting to be led by clinical genetic services (Stark et al, ). Previous studies have highlighted the roles of genetic counselors in critical care settings with a focus on patient support (Ayres et al, ; Clowes Candadai, Sikes, Thies, Freed, & Bennett, ). Genetic counselors can allow for long‐term follow‐up and continuity of care surrounding genetic results.…”

“…They also provide psychosocial support for families in crisis, especially surrounding life‐limiting diagnoses and the initiation of palliative care. Genetic counselors also ensure that other implications of genetic testing, such as incidental findings, are considered in high‐stress environments (Ayres et al, ; Clowes Candadai et al, ).…”

“…The desire to have a genetic counseling presence in critical care settings also brings forth the question of if genetic counselors should receive additional formal training to function in critical care settings? There are many unique medical and psychosocial considerations when it comes to counseling in a critical care settings (Ayres et al, ; Clowes Candadai et al, ; Smith, du Souich, Dragojlovic, Elliott, & Elliott, ). In the past, genetic counselors have primarily functioned in pediatric, cancer, and prenatal settings, but more recently roles in neurology, cardiology, pharmacology, and even psychiatry have emerged (Heald et al, ).…”