Genetic Counselors Save Costs Across the Genetic Testing Spectrum

Genetic counselors (GCs) increasingly serve a variety of roles across the healthcare spectrum, including test utilization management. Our data show that utilizing the expertise of GCs reduced test order errors, improved patient outcomes, and resulted in significant cost savings to the healthcare system.
Published Online: August 10, 2017
Joy Larsen Haidle, MS, CGC; Darci L. Sternen, MS, CGC; Jane A. Dickerson, PhD; Amelia Mroch, MS, CGC; Denise F. Needham, MS, CGC; Christine M. Riordan, MS, CGC; and Michele C. Kieke, PhD, MS, CGC
GENETIC COUNSELORS (GCs) serve in many roles across the healthcare spectrum, in settings as diverse as a hospital or clinic, laboratory, community health center, government entity, and insurance company. Increasingly, GCs are providing test utilization management (UM) services for a variety of stakeholders involved in genetic testing processes, including patients, ordering institutions, testing laboratories, and payers. UM services aim to ensure that the most appropriate, cost-effective testing is ordered for all patients.

The core skills of GCs are becoming even more important in the clinical testing landscape as genetic testing continues to rapidly evolve and expand, primarily due to the advent of next-generation sequencing. These core skills include being knowledgeable about genetics, a strong communicator, a problem solver, self-sufficient, familiar with the inner workings of the healthcare system, and a team player.1

An estimated 70,000 genetic testing products are currently available, with about 10 reaching the market each day.2 There are a variety of factors to consider when choosing an appropriate genetic test. Figure 1 highlights the duties GCs take on throughout the testing process, including:
  • Choosing the best test methodology
  • Choosing the best person in the family to test
  • Selecting the optimal testing laboratory
  • Comparing test costs
  • Obtaining insurance prior authorization (PA)
  • Assisting with interpretation of test results
Here, we present ways in which GCs involved in test UM have helped to realize cost savings that reduced the financial burden on the healthcare system, improved patient care and satisfaction, and prevented potential patient harm in a variety of oncology-related settings. Our data demonstrate that GCs’ expertise in the clinic, institutional laboratory, reference laboratory, and PA process save money across the healthcare system.


Members of the National Society of Genetic Counselors Test Utilization Subcommittee shared data collected through their institutional processes related to ordering genetic tests, tracking cost savings, and improving patient outcomes. Data contributed by each author from her respective institution were pooled and divided into 4 categories based on the GC’s role: clinic, institutional laboratory (2 authors), reference laboratory, and insurance PA.


Clinic. At Sanford Health, electronic health record modification routed BRCA1 and BRCA2 genetic test orders to clinical GCs for pre-test counseling, risk assessment, and standardized patient care. Clinical GCs reviewed the original order in the context of the patient’s personal and family health histories, and determined the appropriate test before an order was placed. This pilot process was very recently implemented at the institution and, therefore, the sample size is small (n = 8) (Figure 2). Patients could choose from 3 appointment options: in person, over the phone, or live video. Seven (87.5%) patients had a family history of cancer, and 1 patient had a personal history of breast cancer.

Several key risk assessment points were considered:
  1. Is genetic testing appropriate?
  2. Are BRCA genetic testing criteria met per insurance guidelines?
  3. Is another type of genetic testing more appropriate (eg, known familial mutation in a non-BRCA gene)?
  4. Based on risk assessment models and personal and/or family history, is the patient’s overall breast cancer risk high or low?
  5. If breast cancer risk is high, is referral to the high-risk breast clinic appropriate?
Interestingly, the recommended genetic test was appropriately ordered for only 2 of the 8 patients in the pilot study (Figure 2). One patient needed a different test, 2 did not meet criteria for testing and were referred to the high-risk breast cancer clinic, and 1 had a low risk for breast cancer and thus was not referred. For the remaining 2 cases, testing was cancelled and/or the patient saw a GC in another health system. These data suggest that intervention by a GC after a genetic test order is placed may help avoid unnecessary genetic testing and ensure that the optimal test is ordered.

Institutional Laboratory. At Seattle Children’s Hospital, laboratory GCs reviewed 3441 genetic tests’ send-out orders from hospital and ambulatory clinics over a 57-month period, resulting in a 32% test modification rate and $972,000 total cost savings (Table). In a subset of test send-out orders reviewed in greater detail over a 2.5-year period (n = 1393), data showed that the order error rate from non-genetics providers exceeded 5% (versus 1.7% for orders placed by genetics providers). This may reflect a lack of experience of non-genetics providers and the increasing complexity of genetic testing.

In the 1393 case subset, we determined that 42 cases (3%) were classified as an “ordering error”—defined as such because the test was not appropriate given the clinical situation. Eleven of these ordering errors may have had diagnostic implications for the patients, such as risk for missed diagnosis or failure to rule out a condition in the differential diagnosis. We also found that 131 orders of the 1393 case subset (9.4%) were defined as “modified” (5.2% due to cost, 2.7% due to improvement, and 1.5% corrected). Order modification is defined as such because testing was indicated but an incorrect test was ordered. We also determined that 121 orders (8.8 %) were defined as “cancelled” (approximately 3.3% due to lack of PA, 2.2% deferred/postponed, 1.5% due to wrong test order, 1.1% due to duplication of testing, 0.4% due to cost, and 0.3% due to new information regarding the patient or available testing). In addition, 205 orders (15%) were performed as sequential diagnostic pathway with UM consultant input, which saved costs by selecting the most relevant, high-yield genes and/or test methodology first, subsequently reflexing to an additional test depending on the result of the first test.3

At the Regions Hospital/HealthPartners care system in Minnesota and western Wisconsin, laboratory GCs reviewed 904 genetic test send-out orders from June 2015 to May 2016, resulting in an overall 13.5% test modification/cancellation rate and a total of $263,000 in cost savings for all genetic test order requests (including orders that were not oncology-related testing) (Table). For the subset of oncology-related test orders tracked by one of the GCs (n = 80 cases), a total of just over $150,000 in cost savings was realized (Table). Approximately 9% of test orders were modified after review by, and consultation with, the GC. The laboratory GC provided consultation to the ordering provider in 45 of the 80 cases (56%), facilitated insurance PA in 33 of the 80 cases (41%), and referred 8 patients (10%) to a clinical genetics specialist.

Although GCs traditionally focus on genetic conditions caused by germline (inherited) mutations, a majority of oncology-related molecular testing involves somatic tumor profiling, which has led to a somewhat unexpected role for the laboratory GC in assisting with somatic (rather than germline) testing. In our experience at HealthPartners, the knowledge and skills of the GC are useful for both types of testing. As large gene panels continue to replace single-gene testing in the oncology setting and panel tests incorporating the detection of both germline and somatic tumor mutations become available, it will become increasingly important to involve genetics specialists in discussions related to clinically useful and appropriate testing, as well as in results interpretation.

Reference Laboratory. At Laboratory Corporation of America, laboratory GCs review test requisitions and clinical histories to confirm that the most appropriate test has been ordered. A total of 392 BRCA1/BRCA2 targeted orders placed between December 2013 and February 2015 were reviewed. Of these, 112 (29%) were ordered by a GC and thus were subtracted from the analysis because they were assumed to be appropriate. Analysis of the adjusted total number of orders (n = 280) requested by non-genetics providers (71% of requesters) revealed that 152 orders (54%) were modified by a laboratory GC following consultation with the ordering provider. Based on the cost of the original order and the adjusted cost after testing had been modified, savings totaled approximately $148,000 (Table).

Data from this study support the premise that laboratory GC review of genetic test orders improves order accuracy and lowers healthcare costs by reducing unnecessary testing. Although pretest clinical genetic counseling is preferred, our study results demonstrate that laboratory GCs can fill some of the gaps in the absence of pretest genetic counseling.

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