There is growing interest among hospital-based laboratories of all sizes in molecular genetics and cytogenetic testing. This is owed in part to the significant impact genetics testing can have in specialty areas such as oncology, neonatology, and reproductive medicine, to name a few. In addition, many health care systems are hiring geneticists, midlevel providers specializing in genetics, and genetic counselors, all of whom would order and serve to interpret genetic testing on a daily basis.

To accommodate this service line, many labs are considering the available in-house choices for this once esoteric service. That said, in order to establish any new testing capability, financial concerns such as billing and reimbursement must be examined, in addition to staffing considerations. By way of case examples, the case for in-house genetic testing can be weighed against your own operations to make the best choice for your staff and the patients you serve.

Cost Suppression and Program Optimization

Most genetic tests performed on infants in the NICU, for example, are costly, and when seeking reimbursement under Medicare’s Diagnosis-Related Group (DRG), working to keep costs down is essential. One approach may be to insource the testing as much as possible.

Performing genetic testing in house can be less expensive overall than sending samples out to reference laboratories, but a broad expense examination must be taken into consideration before determining the true cost comparison. Further, establishing a team to support the program is necessary for ongoing success.

Ideally, in-house genetic testing can give providers a more rapid and personalized care overview, thereby improving outcomes and reducing waste. The following Case Studies demonstrate how in-house genetic testing can benefit patient care. These are based on several years of developing testing capabilities and building trusting relationships with practitioners.

Building a Genetics Team

Building a genetics testing program requires unique skill sets that may need to be found outside the typical clinical laboratory. Most successful genetic testing outcomes are achieved through the input of a combination of clinical team members who review results, oversee testing, and communicate with ordering providers. The genetics testing team at Sanford Health comprises a board-certified molecular pathologist, a fellowship-trained PhD who is board-certified in medical genetics and genomics, and a dedicated laboratory genetic counselor. These three individuals are key to the success of the laboratory-based testing program, as they ensure that testing is meaningful, and results are correctly interpreted.

Developing molecular genetic testing capabilities within the laboratory can be complex and requires a diverse approach. Having individuals on staff with a PhD and practical experience in genetics wet bench research is favorable, but for the testing elements, it is essential to incorporate team members who understand the attendant CLIA regulations and clinical laboratory processes to enable, and maximize, genetic testing. In our operations, we have found a balance with a management team that has clinical laboratory experience and development technicians who have advanced degrees in biological sciences. Further, we internally trained an experienced technician to serve as a variant analyst to assist with reviewing and signing out results. The management team and the development technicians work together to evaluate insourcing opportunities and ensure alignment with resources and current capabilities.

If you are considering pharmacogenetic (PGX) testing, incorporating pharmacist representatives with specialized training in genetics can be highly beneficial. This team can assist in results reporting within the electronic medical record (EMR), building best practice alerts, and advising on medication dosage changes with providers. These individuals are a valuable part of the genetics testing team, as they provide valuable support in identifying which genes should be tested and reported on the PGX panel.

Managing Data Streams and Budgeting

The data streams produced through genetics testing need to be fully vetted as part of any new testing scenario. Incorporating bioinformaticians with laboratory informatics staff can be extremely valuable. In addition, software developers can assist with the informatics programs and attendant workflows to interface directly with the EMR, develop key reports, and dedicate proper resources and time to complex workflows. These individuals (ie, informaticists or software developers) can be contracted workers if volume or budget justifications are a challenge.

To substantiate a financial analysis for insourcing genetic testing, include projected costs for full- or part-time employees for the aforementioned positions, as well as those of the internal testing personnel. Other expenses that should be detailed in a financial pro forma or business case include capital equipment, depreciation, software licensing, data storage, LIS costs, education, training, supplies, and reagents. Accounting for the current reimbursement landscape, it is likewise important to ensure payment for testing and determine whether there is a need for prior authorization or out-of-pocket expenses for patients. Often, these are the most difficult areas in which to acquire meaningful data, so it is wise to engage a reimbursement advisor or expert in the current laboratory reimbursement landscape to help render this information useful.

Gaining and maintaining interdepartmental relationships is key to a successful genetics laboratory. Gaining buy in from genetic counselors within the organization will help in the transition from outsourcing testing to in-house operations. Genetic counselors work jointly with physicians to determine patient testing needs and frequently determine which testing laboratories to use. It is critical to ensure a seat at the table for genetic counselors to assist with decisions such as testing selection, protocols, reporting, billing, and consenting.

Selecting the Tests

When determining which testing to implement for both molecular genetic testing and cytogenetic testing, examine the expected volume and overall value to the organization. It is wise to start small with a test that addresses an unmet need in a small space, such as BCR-ABL1 testing. This blood test is used to monitor patients with chronic myeloid leukemia (CML), post bone-marrow transplant for remission. This may be an investment for the institution, but it provides the team an opportunity to gain practical knowledge. Partnering with a team of oncologists who are comfortable ordering and reviewing genetic tests is a great place to start. Establish an executive and medical sponsor for the project who understands and can explain the costs to the organization with an eye toward future benefits.

Keep in mind that unexpected circumstances may force the lab testing team to pivot and change course. As the FDA’s proposal for oversight of laboratory developed tests develops, it may become necessary to reset expectations on certain tests performed in the genetics laboratory. The additional costs and time required to onboard a new test and make it available to providers may necessitate timing reorganization. These are serious considerations for a start-up molecular or cytogenetics laboratory, and carefully weighing the decisions that are made as a result of the FDA’s proposal is necessary before establishing a plan to incorporate in-house genetic testing.

Conclusion

Introducing and maintaining an inhouse molecular genetics and cytogenetic testing program can appear daunting at first, but the payoff can be substantial. Upfront investment can be justified through a ROI analysis, and the latest technology is suitable for healthcare facilities of all sizes. Be sure to cast a wide net and recruit multiple content experts across disciplines. In the long run, proximity to this powerful testing technology will improve provider satisfaction and patient outcomes alike.

Rochelle Odenbrett, MT(ASCP), MBA, graduated from South Dakota State University with a bachelor’s degree in clinical laboratory science and later obtained an MBA from the University of St. Thomas in Minneapolis. She began her career as a laboratorian at Johns Hopkins Hospital then began an 18-year career with Mayo Clinic Health System, where she held multiple leadership roles and eventually served as the operations administrator for Mayo Clinic Health System laboratories. In 2017, Rochelle became the system executive director for Sanford Laboratories.

Sanford Health, the largest rural health system in the United States, is dedicated to transforming the health care experience and providing access to world-class health care in America’s heartland. Headquartered in Sioux Falls, South Dakota, the organization serves more than one million patients and 220,000 health plan members across 250,000 square miles. The integrated health system has 47 medical centers, 2,800 Sanford physicians and advanced practice providers, 170 clinical investigators and research scientists, more than 200 Good Samaritan Society senior care locations, and health clinics in 8 countries around the globe.

For Further Reading

The Latest Clinical Genetics Technologies in the Lab
by Virginia C. Thurston, PhD, FACMGG, and Holli M. Drendel, PhD, FACMGG
medlabmag.com/article/1893

Get Ahead of Cancer with MRD Testing
by Lucia Cavelier, PhD, and Tatjana Pandzic, PhD
medlabmag.com/article/1896

A Team Approach to Proficiency Testing Performance
by Rochelle Odenbrett, MT(ASCP), MBA ; Carin Flom, MT(ASCP)
medlabmag.com/article/1837

The Promise of Next Generation Cytogenetics: Optical Genome Mapping
by Yassmine Akkari, PhD, FACMG
medlabmag.com/article/1788