Psychological experiment suggests genetic testing may influence neonatologists’ clinical decision-making

1. A randomized, split-block psychological experiment utilizing clinical vignettes provides evidence that genetic studies influence neonatologists’ decision-making for critically ill neonates.

2. Practitioners viewed palliation more favorably than invasive intervention when their patients were stated to have a genetic variant of unknown significance, a genetic etiology for their critical illness, or an incidentally discovered genetic illness associated with neurocognitive delay.

Evidence Rating Level: 1 (Excellent)

Study Rundown: While providers have increased access to robust genetic testing, the effects of genetic information on clinical decision-making remain poorly understood. Researchers at the University of Pennsylvania designed a psychological experiment utilizing four clinical vignettes describing critically ill neonates. Each case had two versions: a “genetic” version in which there were genetic testing results available, and a “non-genetic” version, in which genetic studies were either negative or absent. These cases were distributed as a questionnaire and completed by more than 500 neonatologists who were randomly assigned the genetic or non-genetic version of each case. The practitioners were asked to make clinical decisions regarding invasive treatments or palliation for each infant. The presence of a genetic variant of unknown significance for surfactant proteins decreased the likelihood that providers would recommend tracheostomy and G-tube placement in a hypothetical infant with severe chronic lung disease when compared to the same infant with unremarkable genetic testing. Similarly, an incidental discovery of Williams syndrome (a genetic illness characterized by mild-to-moderate cognitive delay) increased provider preference for palliative care as opposed to central line placement in a septic neonate. Even when the genetic and non-genetic versions of a case provided the same prognostic information – i.e., an infant with severe pulmonary hypoplasia from either a genetic mutation or oligohydramnios – providers were more likely to recommend transition to palliative care when the critical illness resulted from the genetic cause. However, the presence or absence of a pending whole exome sequence did not affect practitioners’ readiness to initiate a goals of care discussion for a theoretical infant with progressive muscle weakness. Though voluntary survey-based studies are at risk for sampling bias, a robust response rate, randomized study design, and careful control of clinical variables in the vignettes identified a moderate effect of genetic information on the clinical decision-making of practicing neonatologists. This research provides objective evidence that the often-ambiguous results of genetic studies may bias the way doctors view complex clinical scenarios.

Click to read the study in PEDIATRICS

Relevant Reading: Anticipating uncertainty and irrevocable decisions:  provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease

In-Depth [randomized controlled trial]: This psychological experiment utilized four clinical vignettes with two versions: a “genetic” version with positive genetic testing results and a “non-genetic” version with absent or negative genetic testing. 551 of ~2600 neonatologists (21%) completed a 22-item questionnaire based on these cases; respondents were primarily from Level III or Level IV NICU environments. Practitioners were randomly assigned the genetic or non-genetic version of each case and asked to rank their recommendations or treatment rationales on a 5-point Likert scale. A genetic variant of unknown significance led to providers being less likely to recommend tracheostomy and G-tube placement in an infant with severe lung disease and more likely to recommend palliative care (p<0.001, Cohen’s d 0.55 and 0.46, respectively). In a septic infant, an incidental discovery of Williams syndrome decreased the likelihood providers would recommend central line placement (p<0.001, d 0.35) and increased the likelihood providers would recommend palliation (p<0.001, d 0.37). In these first two cases, providers seeing the genetic version of the case were more likely to rank the patients’ pain and suffering as a major factor in clinical decision-making (p=0.01 in both cases). Palliative care was also seen more favorably when an infant with severe pulmonary hypoplasia had a genetic cause of their illness (p=0.04, d 0.24). However, pending genetic studies had no impact on practitioners’ reported readiness for goals of care discussion (p=0.06).

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