Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

Abstract

Genetic tests are routinely ordered by health care providers (HCPs) within a wide range of medical specialties. Many providers have limited knowledge or experience with ordering and interpreting genetic tests; thus, test order errors are common. Rigorous review of genetic test orders by genetic counselors (GCs) can provide a direct financial benefit to medical institutions, patients and insurers. GCs at ARUP (Associated Regional University Pathologists) Laboratories routinely perform a preanalytic assessment of complex molecular genetic test orders that includes reviewing clinical and family history information and considering the clinical utility and cost-effectiveness of ordered tests. GCs contact the ordering institution and/or HCP as needed to collect additional clinical information and confirm the test order or suggest alternative testing based on the provided information. A retrospective review of the GC-facilitated test changes over a 21-month period at ARUP laboratories was performed. Approximately 26% of all requests for complex genetic tests assessing germ line mutations were changed following GC review. Testing fees associated with canceled tests were summed to estimate the cost-savings resulting from GC-facilitated test reviews. The test review process resulted in an average reduction in charges to the referring institutions of $48,000.00 per month. GC review of genetic test orders for appropriateness and clinical utility reduces healthcare costs to hospitals, insurers, and patients.

Expanding the genetic counseling workforce: program directors’ views on increasing the size of genetic counseling graduate programs

“…Inclusion of genetic counselors can improve access to and elevate the quality of patient care 10,36 and reduce the cost of medical expenses. 37 Our study identified several opportunities for growth in a time of crucial need for genetic workforce expansion. Two strategies were highlighted because of the systemic impact they would have on multiple barriers: reevaluation of the current GC education model and increased funding for GC education and genetic services.…”

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

“…Genetic testing for adult-onset conditions in children should not be undertaken without medical and/or psychosocial justification and a discussion with family members, although pathogenic variants in adult-onset cancer genes may be revealed by large panels, tumor-based testing, or whole exome/genome analysis as an incidental finding (20). Genetic testing without genetic counseling has been linked with a variety of negative testing outcomes including a lack of informed decision making around testing; ordering of costly, unnecessary genetic testing; misinterpretation of genetic test results; inappropriate or inadequate medical management; violations of ethical standards; and adverse psychosocial outcomes (21)(22)(23). The informed consent process should include a discussion about the implications of the results to the patient (including discussion of the surveillance protocol, or lack thereof, for the child if found to have a hereditary cancer predisposition syndrome), psychosocial and ethical considerations, confidentiality and privacy concerns (which varies with the laws of different countries), the implications of the results for other relatives, logistics including a plan for disclosing results, and the option of deferring or declining testing (15,(24)(25)(26).…”

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

“…Genetic testing performed without pre-and posttest genetic counseling by qualified clinicians has been associated with negative patient and societal outcomes such as misinterpretation of genetic test results, inappropriate medical management, lack of informed decision making, violation of established ethical standards, adverse psychosocial outcomes, and costly, unnecessary genetic testing. [1][2][3] Cancer genetic consultation is an important aspect of the care of individuals at increased risk of a hereditary cancer syndrome. [4][5][6][7][8] Yet, several patient, clinician, and system-level barriers hinder the identification of individuals appropriate for cancer genetics referral.…”