The neonatal and pediatric ICU – a setting in which there is no certainty, no expectations, and countless families in crisis. When an estimated one-third of pediatric hospital admissions have a clear underlying genetic disorder (McCandless 2004), many families are called to make rapid and possibly life-altering decisions, including the choice of genetic testing. When a genetic counselor is consulted, parents are not scheduling an appointment, and we often show up with little warning provided from their primary healthcare team. A mother may have just been discharged from the hospital and finally holding their child for the first time. The family may have other children at home and are unable to be bedside. In other instances, custody may be unknown for the child. The family may not have slept in days or may have other crises happening outside the hospital they cannot control. You may be the 5th specialist this family has seen that day. The child may be hours or minutes away from being wheeled off for surgery. There may be multiple beeping machines making this not only a hectic environment, but often loud. The point is you are in their world unexpectedly and are asking them to make a decision they never anticipated. These experiences have led us to a larger conversation regarding the challenges and considerations surrounding genetic testing in ICU setting.
When families are trying to navigate the choice of genetic testing in this environment, some have questioned whether ALL genetic testing requires informed consent in the ICU setting. For example, does a FISH, karyotype, or microarray require informed consent? Many times, “frontline” tests such as these are ordered by the birth hospital prior to transfer, sometimes without parents’ reported knowledge or consent. In the midst of time constraints, lack of genetic counselors and geneticists, and our 9 to 5 schedule, should genetic providers be the only ones discussing genetic testing with our ICU families?
We all agree that informed consent is a vital and necessary part of genetic testing. We believe Callie Diamonstein described the issues surrounding informed consent best in her JGC paper by stating, “major factors influencing [my] practice of consent counseling are the emotional states of the parents, involvement of multiple healthcare providers, environmental distractions and competing clinical priorities”. So, how do we measure informed consent in emotionally charged settings? Should our counseling on genetic testing in this environment always be non-directive? Given the challenges of informed consent in the ICU setting, should we always be offering the choice for secondary findings? We’ve personally had the experience of consenting a family hours before their child passed away, and hours after their child passed away. In these circumstances, when we bring up the option for secondary findings, the response is usually, “Do what you need to do, I am ready to sign”. Further, the ICU has a more diverse and medically underserved population than we see in outpatient genetics clinics. The process of informed consent needs to consider cultural and language differences as well as serve individuals who have lower health literacy. It is imperative that more research, like the 2021 article by Suckiel et al., be done to improve patient understanding and engagement.
As our technology has further evolved, the options of rapid whole exome (rWES) and whole genome sequencing (rWGS) have given our inpatient teams a valuable tool for providing answers to families during an inpatient stay. Obtaining a diagnosis quickly during an admission may help reduce invasive procedures, tailor management, and improve outcomes. At Cincinnati Children’s, we are utilizing an NIH protocol called GEMINI (Genomic Medicine for Ill Neonates and Infants) to offer rapid whole genome sequencing (rWGS) and a rapid critical neonate panel to patients under the age of 1 year in the ICU with suspected genetic conditions. There are many protocols similar to this around the country being utilized to look at the clinical utility and implementation of rWGS or other forms of rapid next generation sequencing (NGS) as a frontline test for critically ill infants. However, the mix of both clinical and research offerings, we have found, can be overwhelming and confusing for families. When trying to make the best choice for their child and their family it can be more difficult when there is an added sense of urgency to make a decision.
Another challenge we face is managing expectations of parents and providers surrounding what rapid whole genome sequencing (rWGS) and rapid whole exome sequencing (rWES) can and cannot provide. We have seen rWES/rWGS marketed as tests that can directly impact clinical decision-making or clinical outcomes, when in fact many times we either do not obtain a diagnosis or we obtain a diagnosis that does not alter treatment/outcomes. Sometimes a genetics consult is placed asking for rWES/rWGS to help decide if the child is a candidate for certain interventions, such as ECMO, trach, surgery, transplant, etc. This brings not only a question of appropriately managing expectations, but also ethical considerations of whether or not genetic test results should be used to decide whether to withhold or withdraw care.
We have seen just the beginning of rapid genetic tests in our ICUs and we believe this testing will soon become the norm. Having discussions regarding the ethics of rapid NGS before it becomes commonplace can help us set recommendations and/or guidelines so we can better care for our patients. We understand that we won’t have the answers for all of these questions today, or maybe even in the next ten years. However, technology is driving practice – are we keeping up? The need for genetic counselors in the inpatient setting to help practitioners and families navigate this complex environment will only continue to grow. Previously in Perspectives 2019 Q2 and 2021 Q1, genetic counselors began examining the role of the inpatient GC and how they can positively impact both families and the hospital systems they work in. Emily Magness also recently published the first study looking at the characterization of genetic counselors practicing in the inpatient setting. Together we can continue research and encourage publications to help guide the practice of inpatient genetic testing towards an ethical and equitable future.
Kimmie Widmeyer, MS, CGC is a full-time inpatient genetic counselor at Cincinnati Children’s Hospital Medical Center where she sees consults in the NICU, PICU, CICU, or other admitting hospital units. She is currently the co-chair of the inpatient SIG.
Farrah Jackson, MS is Clinical Research Coordinator for Cincinnati Children’s Hospital Medical Center and graduated from the University of Cincinnati Genetic Counseling Program. She is involved in multiple genetic research protocols and is currently the primary coordinator for the GEMINI Study, an NIH-funded study, which involves consenting families and neonates in critical condition for rapid whole genome sequencing and broad-based panels.