2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-GATEways to improved test utilization: Opening doors and building bridges

Pdf Summary

Children's Mercy Kansas City has implemented a utilization program called the Genetic Appropriate TEsting (GATE) Committee to review complex genetic test orders. The committee consists of 7 members with different backgrounds, including genetic counselors, neurologists, pathologists, and geneticists. The committee reviews each order for appropriateness and makes a decision within 5 days, which is then communicated to the ordering provider. The aim of this program is to ensure appropriate genetic testing is ordered, prevent unnecessary testing, and reduce financial burden for families.<br /><br />The study reviewed 82 cases over a four-year period to assess the outcomes and savings of the GATE program. The orders came from 18 different subspecialties, with Clinical Genetics being the most common source. The committee made decisions on whether to approve, change, or deny additional testing based on the review.<br /><br />The results showed that the GATE program was effective in preventing inappropriate genetic testing. The most common reason for denial was nondiagnostic results, followed by cases where additional testing was not performed. The program resulted in a total cost savings for families of $79,835.<br /><br />The GATE program not only helps prevent unnecessary genetic testing and financial burden for families, but also promotes education of providers as new disorders evolve. It fosters relationships between the laboratory and clinical providers, enhances clinical expertise, and improves the diagnosis of rare diseases.<br /><br />Some case examples were provided to illustrate the decision-making process of the GATE committee. These examples include additional testing approved for a patient with epilepsy and intellectual disability, denial of testing for a patient with developmental delay and intermittent ataxia due to expanding phenotype, denial of testing for a patient with Trisomy 21 and pulmonary hypertension, and denial of testing for a patient with thrombophilia due to lack of clinical utility.<br /><br />In conclusion, the GATE program at Children's Mercy Kansas City has been successful in preventing inappropriate genetic testing and reducing financial burden. It also promotes education and collaboration between healthcare providers and improves the diagnosis of rare diseases.

Asset Subtitle

Presenting Author - Lee Zellmer, MS, CGC; Co-Author - Mary Rindler, MS, CGC; Co-Author - Maggie Humphrey, MS, CGC; Co-Author - Jennifer Roberts, MS; Co-Author - Eric T. Rush, MD; Co-Author - JD Nolen, MD; Co-Author - John Herriges, PhD; Co-Author - Ara Hall, MD; Co-Author - Shivarajan M. Amudhavalli, MD; Co-Author - Carol J. Carol, PhD;

Meta Tag

Genetic Testing

Co-Author Mary Rindler, MS, CGC

Co-Author Maggie Humphrey, MS, CGC

Co-Author Jennifer Roberts, MS

Co-Author Eric T. Rush, MD

Co-Author JD Nolen, MD

Co-Author John Herriges, PhD

Co-Author Ara Hall, MD

Co-Author Shivarajan M. Amudhavalli, MD

Co-Author Carol J. Carol, PhD

Presenting Author Lee Zellmer, MS, CGC

Keywords

GATE program

genetic testing

appropriateness

financial burden

cost savings

clinical expertise

diagnosis of rare diseases

education of providers

collaboration

healthcare providers