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

Abstract

Genomic sequencing (GS), such as whole genome and exome sequencing, is rapidly being integrated into pediatric critical care settings. Results are being used to make high impact decisions including declarations of futility, withdrawal of care, and rationing of scarce resources. In this qualitative study, we conducted interviews with clinicians involved in the care of critically ill children with congenital heart disease (CHD) to investigate their views on implementation of GS into clinical practice. Interviews were transcribed and inductively analyzed for major themes using grounded theory and thematic analysis. Three major themes emerged surrounding the use of genomic information in the high‐stakes, time pressured decision making that characterizes clinical care of critically ill children with CHD: (a) that clinicians felt they did not have sufficient training to accurately assess genetic results despite pressure to incorporate results into clinical decisions; (b), that they desire knowledge support from genetic specialists, such as genetic counselors, who both understand the critical care context and are available within the time constraints of critical care clinical pressures; and (c), that clinicians feel a pressing need for increased genetics education to be able to safely and appropriately incorporate GS results into clinical decisions Our data suggest that genetics specialists may need a stronger presence in the pediatric critical care setting.

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

“…All professional groups valued cross-discipline collaborative working when delivering RGS, highlighting the benefits of multidisciplinary team meetings to triage patients and interpret results. As with other studies in acute [ 18 ] and more routine settings [ 20 , 35 , 36 ], we noted that as GS moves to mainstream clinical practice [ 37 ], a growing role for non-genetic professionals was recognised. Additional training is needed alongside support from genetics colleagues for decisions on eligibility, interpretation of results and counselling.…”

Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption

“…These concerns are J o u r n a l P r e -p r o o f consistent with the views expressed in prior studies. 12,13 However, we did not see as strong a preference for a genetic-led service as reported in another prior study, 14 perhaps because intensive care clinicians developed confidence as effective training and reliable and timely genetics service support were available in the Project Baby Bear sites. Conversely the removal of a requirement for "suspicion of a genetic disorder" in favor of criteria-based testing may have allayed some of the fears of the intensive care clinicians in determining patient eligibility for rWGS testing.…”

“…9 The studies of clinician attitudes and beliefs about genomic sequencing reveal concerns about lack of provider knowledge about appropriate use of the technology, desire for greater support from genetics specialists and concerns about consequences for patients and families about future use of the genomics results. 6,[12][13][14] A large scale quality improvement project implementing rWGS, Project Baby Bear, was funded by California Medicaid (Medi-Cal) and included five tertiary children's hospitals across the state serving rural and urban populations with California Children's Services accredited regional NICUs and PICUs. Rather than requiring clinical suspicion of a genetic disorder, J o u r n a l P r e -p r o o f criteria-based enrollment was used.…”

Characterization of genetic counselor practices in inpatient care settings

“…Deuitch et al. (2020) demonstrated that non‐genetics clinicians desire genetic specialists like genetic counselors to help in inpatient settings, as the clinicians feel they lack expertise in genetic test result interpretation. Much like genetic counselors are employed in outpatient subspecialty clinics, genetic counselors can work in inpatient subspecialties and educate non‐genetics providers on genetic counseling and testing.…”