Genetic Counselors and Laboratory Stewardship

By Shirelle Barnes, MS, CGC

When people think of genetic counselors (GC)—if they already know what they are—they tend to think of them as primarily working in a clinical setting and interacting directly with patients. The most recent National Society of Genetic Counselors Professional Status Survey (NSGC PSS) demonstrates that they would be mostly correct, as 27% of respondents work in a non-direct patient care position, 2% work in a noncommercial laboratory, 7% have the job title of laboratory genetic counselor, 6% participate in utilization management as part of their role, and 8% of respondents selected laboratory science as their area of practice. When I first decided to become a GC, I didn’t envision myself being in a primarily non-clinical, laboratory-based role. My training didn’t really expose me to this opportunity, either. Logbook case requirements set forth by the Accreditation Council for Genetic Counseling require that genetic counseling programs provide pediatric, adult, prenatal, and cancer clinical rotations to students as part of their curriculum, but laboratory rotations are not currently a requirement. Although many programs provide students with some exposure to genetic laboratories, the extent, variety, and depth of this exposure can vary significantly. Despite this, laboratory GCs have become more numerous in the past several years due to an increase in genetic test offerings and laboratory services, as well as the advancement in testing methodologies. A genetic counselors training helps develop a unique skillset that allows them to play a critical role in the laboratory; these roles can include client liaison, variant interpretation and report writing, research, insurance authorization, customer/client support, and utilization management. Particularly, many hospital-based laboratories are hiring genetic counselors to aid in utilization management programs.

Shirelle Barnes, MS, CGC

Utilization management is broadly defined in the 2023 NSGC PSS as “the evaluation of the medical necessity, appropriateness, and efficiency of the use of health care services, procedures, and facilities”.  With regards to hospital-based laboratories, utilization management (now more appropriately referred to as laboratory stewardship) involves interventions aimed at ensuring that the most clinically appropriate, cost-effective testing is ordered—the right test is ordered for the right patient at the right time. The focus of laboratory stewardship is commonly aimed toward genetic test review to improve ordering, identify potential cost-savings, improve insurance coverage, and to improve interpretation of genetic tests because genetic tests are complex, expensive, have increased in order volume over the years, and have a higher likelihood of being misinterpreted compared to more standard laboratory tests.

The laboratory GC position at Children’s Health in Dallas was proposed by the laboratory in 2014, with the initial goal of reducing healthcare costs through laboratory stewardship. I started the position in July 2014, straight out of graduate school at the University of Arkansas for Medical Sciences, with minimal knowledge about laboratory genetic counselors and zero knowledge about laboratory stewardship. Before starting in my new job, I had an opportunity to rotate with a laboratory GC at Arkansas Children’s who had experience with these roles. Rotating with a laboratory GC was not a part of my training, and I specifically pursued this opportunity in the few months prior to graduation so that I could get an idea of what my future position could be like. One of the first things I did at Children’s Health was to meet with potential stakeholders, including the clinical genetics team, SendOuts department, operational director of laboratory services, ambulatory service representatives who assisted with insurance preauthorization, and pathology directors. Ensuring participation and support from a variety of key stakeholders (ex: leadership commitment) is not only important for implementation, but it is also helps to align the laboratory stewardship program with the needs of the organization. A resource I used to help determine which key stakeholders to involve was PLUGS (Patient-centered Laboratory Utilization Guidance Services) by Seattle Children’s.

PLUGS is a laboratory stewardship collaborative that provides members with resources to facilitate various laboratory service initiatives. They have outlined four core elements of a successful hospital-based laboratory stewardship program: Governance, Interventions, Data Extraction and Monitoring, and Review and Improve. The first core element, Governance, includes what I discussed above with regards to key stakeholders and leadership participation; it also includes accountability to a high-level medical executive, committees and subcommittees, laboratory expertise and other key support, and networking. Building my laboratory stewardship role at Children’s Health involved all these elements of governance. Within my first few years, I was able to educate various providers about appropriate testing (ex: explaining to them that a chromosomal microarray, karyotype, and MECP2 deletion/duplication analysis doesn’t need to be ordered for every male patient with autism). I also worked alongside the laboratory services director and SendOuts coordinator to develop a laboratory utilization management committee that included clinicians and department heads. This committee presented to hospital leadership through the hospital utilization management committee and highlighted the ways laboratory stewardship was beneficial for patients and the organization.  PLUGS also provided the opportunity to network with other laboratory genetic counselors and organizations that had laboratory stewardship programs. 

The second core element, Intervention, can be categorized based on strength: gentle, medium, or strong. I first utilized a gentle intervention approach – I would send an email to a provider outlining my recommendations and provided education as to why one test was preferred/better over another, why a test should be canceled (ex: it was a duplicate order), or cost information. The aim of this email was to provide the clinician with all the information needed to decide whether they would allow me to cancel or change the initial test order. Over time I saw providers modify their ordering practices based on the guidance and education I provided them. I also built relationships with these providers so that they felt comfortable reaching out to me with any genetic testing order questions. Once the utilization committee was implemented in 2018, the laboratory began incorporating a few medium and strong interventions within the electronic medical record system which included implementing hard stops during order entry for duplicate test orders (the provider had the option of contacting a pathologist if they felt like the testing was still needed) and limiting the availability to order certain tests to specialty providers, such as Genetics and/or Neurology.

Monitoring and tracking using data is the third element that PLUGS emphasizes as being critical for identifying improvement opportunities and quantifying the impact of the interventional efforts. I worked with laboratory administration to determine which data points to track before I began reviewing test orders; this information helped justify my role as a genetic counselor in the laboratory and demonstrated to the organization the benefit of laboratory stewardship. The final element PLUGS suggests for an effective laboratory stewardship program is Review and Improve, which means determining what criteria your leadership committee could use to solicit and vet improvement opportunities. These opportunities were often a topic of discussion during utilization committee meetings and helped us determine which projects would strengthen our efforts and our program.

 As previously stated, I was initially hired by the laboratory to help with laboratory stewardship, and there have been many successes during that time. These successes include: the option for clinicians to order an electronic insurance benefits investigation prior to ordering a genetic test, to provide their patients with an estimate out of pocket cost for testing; the Molecular Working Group, which was set up as a resource for providers to access genetic testing for patients who had Texas Medicaid, and said tests had CPT codes designated as non-billable; educating providers on appropriate tests (no longer ordering those chromosomal microarrays and karyotypes simultaneously); and, obviously, a cost savings of over $100,000 within my first few years.

My role at Children’s Health has since expanded into other areas. I am now involved in variant interpretation/report writing, test development, assay validation, policy drafting, and counseling patients in the genetics clinic. This expansion was partly due to the growth of the in-house clinical genetics laboratory’s test menu, but also caused by the unintended decrease in my involvement in laboratory stewardship. There were numerous leadership changes within the organization, and the new leadership had different priorities than their predecessors which resulted in key stakeholders no longer being involved in laboratory stewardship and, alongside the pandemic, led to a pause in the work of the utilization committee. However, I have considered this an opportunity to look at my laboratory stewardship efforts with a fresh set of eyes. At this year’s TSGC conference, I was able to learn about laboratory stewardship efforts at other Texas-based institutions, and this provided me with an invigorating networking opportunity. Some of us have since met via Zoom and are looking forward to sharing our laboratory stewardship processes and efforts and discussing future collaborations. One future project for our group is to organize something like PLUGS here in Texas. If you have a particular interest in laboratory stewardship, and would like to be involved in this collaboration, please feel free to contact me and I can include you in our future discussions.