The Importance of Genetics Experts in Optimizing Genetic Test Orders Through Prospective and Retrospective Reviews

Am J Clin Pathol. 2020 Mar 9;153(4):537-547. doi: 10.1093/ajcp/aqz188.


Objectives: To demonstrate the impact of genetics specialists on identifying test order errors and improving reimbursement for genetic testing.

Methods: Forty-four cases in which whole exome sequencing (WES) was performed but not reimbursed were reviewed by a genetic counselor through simulated prospective and retrospective reviews.

Results: Fifty-two percent of WES requests were ordered by nongenetics providers. Retrospective review revealed that 50% of cases were denied because of contractual constraints on billing. If review by a genetic counselor had occurred in real time, modifications or cancellations would have been recommended in 82% of the cases.

Conclusions: A laboratory stewardship program involving genetics experts identified test order errors and opportunities for improved reimbursement and cost savings. Significant variables affected reimbursement, including inpatient status, payer criteria, and ordering provider specialty.

Keywords: Laboratory stewardship; WES; eimbursement; enetic testing; enetics; hole exome sequencing; nsurance; reauthorization; rior authorization; tilization management.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome Sequencing
  • Genetic Counseling
  • Genetic Testing*
  • Humans
  • Laboratories
  • Prospective Studies
  • Retrospective Studies