Genetic testing is increasingly coming into the mainstream, with genetic and genomic testing now available for thousands of genetic conditions. Many hospital laboratories send out genetic tests to reference laboratories, often at considerable cost.

Numerous publications have demonstrated that specific lab stewardship measures can reduce this burden and simultaneously improve patient care (1,2). These interventions include reviewing all genetic orders over a certain monetary threshold, using electronic clinical decision support tools, and restricting send-out labs to a select few. We found at our institution that careful preparation and analysis will give us the opportunity to significantly reduce the number of reference laboratories we use while maintaining the quality that clinicians and patients depend on.

Mapping the Problem

Our pediatric hospital system consists of three hospitals and 10 outpatient draw stations throughout the community, and our send-out volume has risen to nearly 100,000 total tests per year. Although a molecular pathologist screens all miscellaneous testing costing more than $2,000, providers can still send testing to their personally preferred laboratories. As a result, our current lab policy includes 80 approved reference labs. Having 80 approved reference labs creates numerous complexities with ordering, result tracking, and financial reporting. It also prevents us from effectively contracting for lower rates.

To maximize value and consolidate our complex genetic testing as much as possible, our newly formed laboratory stewardship committee (LSC) embarked on a request for information (RFI) and subsequent request for proposal (RFP) initiative from 11 established labs performing germline genetic testing. The goal of the initiative was to limit the number of reference labs for genomic testing and to negotiate lab contracts to improve both quality and economy.

Surveying Clinicians

To garner information and provide an inclusive environment, we first surveyed multiple providers throughout the hospital system, focusing on the services with highest genomic testing volumes: neurology, hematology/oncology, cardiology, and medical genetics. We asked providers about their specific needs and preferences for genomic-based reference testing to identify the attributes of reference labs most desirable to the clinical teams. Sample questions included: “What are your top barriers in the ordering process of outpatient genetic testing?” and “What would be most important to you in a genetic lab formulary?”

From this survey, we gathered valuable information about attributes to prioritize in our search, such as the ability of a reference lab to handle testing preauthorization, as well as their overall quality of methodology.

Designing a Quality Screen

We then embarked on an RFI as a quality screen across 11 pre-selected germline genetic testing labs, most of which our providers currently use. We asked each lab questions in the following categories: general vendor information, finance, quality and technical, website, customer service, and billing. Sample questions covered the minimum depth of sequencing the vendor performs for germline testing, and for clinical exomes, the minimum percent coverage of the clinical exome genes sequenced. We also asked whether the lab offered a website custom panel build ability with an appropriate search tool to build panels and whether they helped obtain pre-authorization for testing.

Of the 11 labs given the RFI, one failed to respond by the deadline and was eliminated from further consideration. We evaluated the remaining 10 labs as follows. A group of four physicians on our LSC collectively gave each question a relative weight of 1–3, based on the importance of the question. We established this importance based on our own expertise, as well as using feedback from the clinical survey. Examples of high-weight questions included: What minimum depth of sequencing does the vendor perform for germline testing? Are current and compliant CPT codes listed clearly for each test? And, What method of interfacing is used? 

We then assigned a grade for each question’s response in a standardized process, with a value between 0 and 4, based on the response. We calculated the total score for each question by multiplying the weight by the grade. Table 1 demonstrates the total possible distribution of points across our scoring system.

Note that the billing category contained questions predominantly weighted as zero; this was done purposefully, so as to concentrate the RFI on quality and customer services issues, and to defer billing evaluation to the subsequent RFP.

Distribution of Potential Points Across all Categories in Request for Information

Request for Proposal

Based on the results of the RFI, we eliminated from further consideration the five labs with the lowest total RFI scores and shared this information with our clinical colleagues in order to keep them engaged. We moved forward with an RFP for the top five scorers.

The RFP was largely geared toward financial and billing considerations, but also incorporated additional questions from our clinical colleagues. In addition, we compiled a list of the testing that we had previously sent to the bottom scorers and asked the top five labs whether they could perform such testing, and for what cost. Although we considered using a scoring system similar to the one we had used for the RFI, we realized after we received the results back that there were a clear top three out of the five finalists, and therefore we unanimously decided to opt out of further numerical analysis.

Next Steps and Complexities

Much of our progress in the later stages of this project, beginning with the RFP, has slowed considerably during the COVID-19 pandemic. Nonetheless we’ve pressed forward by focusing on incremental progress, rather than admitting defeat for non-COVID-19 initiatives. Currently, we are negotiating on pricing with our final three genomic reference labs, with the goal of redirecting the majority of our genetic test menu to these three labs. 

Benefits of a Data-Driven Approach

Since the choice of genetics reference labs tends to be very subjective, a data-driven approach, such as using an RFI and RFP, provides an unbiased selection process that can be adopted organization-wide. To objectively determine value, such an evaluation should include a thorough investigation of testing quality, such as depth of sequencing and quality of reporting, customer service, and billing practices. Once a small number of labs has been selected based on this evaluation, testing can be redirected to these labs to the extent possible to minimize complexity, maximize cost savings, and streamline operations.

Elizabeth Weinzerl, MD is the director of clinical Pathology at Children’s Healthcare of Atlanta and a member of its laboratory stewardship committee. Email: [email protected]


  1. Dickerson JA, Fletcher AH, Procop G, et al. Transforming laboratory utilization review into laboratory stewardship: Guidelines by the PLUGS National Committee for Laboratory Stewardship. J Appl Lab Med 2017;2:259-68 
  2. Rubinstein M, Hirsch R, Bandyopadhyay K, et al. Effectiveness of practices to support appropriate laboratory test utilization: A laboratory medicine best practices systematic review and meta-analysis. Am J Clin Pathol 2018;149:197-221.