Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates

Abstract

As genomic sequencing has become available in pediatric clinical genetics settings, genetic counselors have been called upon to support individuals and families through the testing process. Technological and bioinformatic advancements, along with the availability of analytical expertise, have significantly reduced genomic sequencing turnaround times, enabling this powerful diagnostic tool to be used in neonatal intensive care units (NICUs) in place of or alongside traditional diagnostic strategies. It is important that pretest counseling for genomic sequencing prepares parents of critically unwell infants for the potential impacts of achieving a diagnosis, such as rare or ultra‐rare diagnoses with limited disease‐specific information, or the diagnosis of a life‐limiting condition. Genetic counseling experiences and challenges arising in rapid genomic sequencing settings are yet to be discussed in the literature in detail. This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra‐rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory. As technology continues to drive practice, it is important genetic counselors remain abreast of these issues in order to appropriately support families through the genomic sequencing process and beyond.

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

“…Many of these concerns would be relevant to any genetic tests offered in this setting, however, RGS differs in a number of ways, including the broad scope of the test, the rapid turn-around time and the potential for uncertain findings. When RGS is offered in critical care settings, parents may need additional support while waiting for the outcomes of testing and could benefit from established plans for clinical follow-up [ 12 ].…”

“…ICUs are unquestionably a difficult environment for parents who have increased stress levels, anxiety, anger and depression, compared with those with children on other wards [ 26 , 27 ]. Supporting informed decision making has been highlighted previously as a key challenge for offering RGS in acute care settings [ 12 , 24 ]. We found that the vulnerability of parents in this setting was clear and parents spoke about doing anything to help their child.…”

“…While there is great potential for genomic sequencing to have a beneficial impact on how genetic conditions are diagnosed and treated, integrating these tests into clinical care involves multiple considerations around how the tests are offered, what results should be returned, implications for other family members, data protection, and ensuring informed consent [ 14 ]. For RGS in paediatric critical care additional challenges include supporting parents needing to process complex information and make informed decisions during a distressing and time-pressured period [ 12 ]. There are also concerns around costs, changing expectations for professional roles and potential burdens on laboratories [ 10 ].…”

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, ).…”