Laboratory stewardship  programs are poised to shape ordering practices and support providers throughout the healthcare system. Teams comprised of pathologists, genetic counselors, sendout staff, laboratory managers, and trainees seek to provide safe, high-value tests for patients. Lab stewardship team members, acting as consultants throughout healthcare organizations, rely not only on their expertise in laboratory medicine but also on their interpersonal skills in communicating their knowledge. A significant portion of a laboratory stewardship program’s work involves decision-making about test ordering and results interpreting. Facilitating decision-making is a psychosocial skill commonly referencing the patient-provider relationship (1)

Often overlooked, and perhaps equally important, is the use of these skills in peer relationships, namely provider-to-provider.

We humans use a variety of heuristics, or mental shortcuts, to make decisions. Cognitive biases arise when these heuristics lead to errors (2). Medical literature documents various cognitive biases thought to affect clinical judgment and diagnostic accuracy (3), such as the availability heuristic, in which a decision-maker judges the likelihood of an event based on the availability of an example. This becomes a cognitive bias when the likelihood of an event is much lower than the judge suspects based on experience (2). Another heuristic that can lead to error is confirmation bias, in which an individual interprets new information in a way that confirms prior knowledge (2). Let us consider a real case in which these two biases presented.

Presenting the Case

As part of the laboratory test stewardship program, lab staff review genetic test orders from regional pediatricians at the time of order. In this case, a 4-year-old boy presented with developmental delays and potential autism although no formal diagnosis had been made. The provider requested single gene sequencing for a gene that demonstrates x-linked inheritance and can present as autism, intellectual disability, seizures and/or epilepsy, and various brain malformations.

Upon review, it appeared that a chromosomal microarray had not yet been performed despite being the standard of care (4). This prompted the lab consultant to contact the ordering provider for additional information. This pediatrician shared that she had seen a child previously with the exact same features who was found to have a pathogenic variant in the gene in question.

Provider: I’ve seen another patient with this genetic condition and these two kids are just so strikingly similar.

Consultant: I can imagine that seems odd to you, seeing two kids who present so similarly. Chromosomal microarray is the recommended first tier test for children with developmental delays. What do you think about starting with that test instead? 

Provider: Thank you for pointing that out. I did consider it, but my previous patient and this little boy both have very similar features that make me suspicious of autism. They are so similar that I really can’t imagine this child’s problems are caused by anything else.

Consultant: I understand. Do you happen to know the incidence of this single gene condition?

Provider: I’m not sure, but I really do think that this single gene testing will identify the cause. I’d like to proceed as ordered.

Consultant: Okay, we’ll get that started for you. If you have questions in the future or if we can be of additional assistance, please let us know.

In this scenario, the provider had recently seen a child with similar presenting features and therefore thought the likelihood of this incredibly rare single gene condition was much higher than if her assessment had been based on incidence alone. The incidence for pathogenic variants like this is vanishingly small, fewer than 500 documented cases worldwide. The consultant decided that suggesting alternative testing was an adequate intervention and that it was acceptable to proceed with the testing as ordered. This preserved the relationship between the provider and the laboratory test stewardship program and kept the lines of communication open.

However, our astute readers will have noticed a second cognitive bias playing out in this scenario. The presenting features for this single gene disorder include a lengthy list of neurologic symptoms, but by focusing on the features this patient had and discounting the features he lacked, the provider was more likely to suspect this disorder than statistics would support.

Let’s fast-forward a few weeks. With the conversation having ended on a cooperative note, the provider felt supported and was willing to recontact the laboratory test stewardship team when she received the test results.

Provider: Hi, we spoke a few weeks ago regarding genetic testing for my patient, Joey CuteKid. I ordered single gene testing and the results have come back unrevealing. Do you think microarray analysis would still be helpful?

Consultant: Hi, I’m glad you called and I’m sorry to hear that you haven’t found an answer for Joey. Yes, I think a microarray would be worth considering. How has the single gene analysis changed your assessment?

Provider: Well, he has nonspecific features when I think about him compared to all of my patients. A microarray seems feasible given his developmental delays. I don’t know what my next steps might be if that turns out to be negative too.

Consultant: I certainly understand your concerns. What do you think you might do if it comes back negative?

Provider: I would definitely consider referring him to a clinical geneticist.

Consultant: One option would be to place the referral to genetics and order the microarray at the same time. If the microarray identifies a genetic etiology, the clinic visit can be canceled. If it doesn’t, then the family’s wait time for an appointment will at least have been shortened.

Provider: What if there is a better test, like a large sequencing panel for autism and developmental delay?

Consultant: It’s clear that you want to identify the best test for your patient. The current guidelines support microarray as the first tier test for children with developmental delays. As you might already know, the majority of genetic tests yield negative results, so Joey’s testing very well might come back negative.

Provider: True, I guess I didn’t think of it that way. It’s been helpful to discuss these options with you. I’ll order the microarray. Thank you!

A laboratory stewardship program serves both as a utilization management intervention and a support service to providers throughout a health system. It can be beneficial to review options and discuss outcomes when making decisions, particularly when there might not be an obvious correct or best option. Literature has shown that taking time to pause and reflect on the clinical scenario can reduce bias (5).

When evaluating patients for genetic conditions, multiple tests might be warranted and there might be several paths to achieve the clinical goal. Laboratory stewardship programs help by providing guidance throughout the genetic testing process. When providers feel supported, everybody wins.

Jessica Shank, MS, is a laboratory genetic counselor at Seattle Children’s Hospital in Seattle, Washington.+Email: Jessica.shank@seattlechildrens.org

References

1.       Politi MC, Street RL. The importance of communication in collaborative decision making: Facilitating shared mind and the management of uncertainty. J Eval Clin Pract 2011;17:579-84.

2.       Tversky A, Kahneman D. Judgment under uncertainty: Heuristics and biases. Science 1974;185:1124-31.

3.       Norman GR, Monteiro SD, Sherbino J, et al. The causes of errors in clinical reasoning: Cognitive biases, knowledge deficits, and dual process thinking. Acad Med 2017;92:23-30.

4.       South ST, Lee C, Lamb AN, et al. ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013. Genet Med 2013;15:901-9.

5.       Redelmeier DA, Ng K. Approach to making the availability heuristic less available. BMJ Qual Saf 2020;29:528–30.