By Weissman SM, Bailey J, Fan A, Fine CA, Gordon ES, Jordan E, LeLuyer B, Meyers L, Rope A, Shabazz H, Swope B, and Bleyl SB
Consumer-directed genetic testing (CD-GT) continues to grow in popularity, evidenced by the increasing number of tests entering the genetic testing market and the number of consumers ordering them. Many labs that offer CD-GT also provide access to pre- and/or post-testing genetic counseling (GC) through partnerships with independent telegenomics companies. The cost of GC services is typically built into the cost of the test to help reduce barriers to accessing GC services, but the uptake of GC services associated with CD-GT is not well established. Genome Medical, a nationwide genomics medical practice, provides pre- and post-test GC services to multiple laboratories offering CD-GT and we recently evaluated the utilization of our GC services with our CD-GT partners.
Since 2017, we have provided personal and family history review and genetic test authorization for 1065 individuals for the following indications: expanded newborn screening, mature onset diabetes of the young (MODY), familial hypercholesterolemia (FH), proactive health including targeted 59 gene panel testing and “whole genome sequencing” and polygenic prostate cancer risk. Emails prior to test authorization were sent to all patients making them aware that they have access to pre-test GC to discuss the test. Individuals deemed to be at increased risk of a hereditary syndrome that warranted diagnostic testing based on questionnaire review were sent an expectation setting email raising the possibility of diagnostic testing.
Once results were received, individuals with a negative test result were sent the results and a clinical action plan (CAP) via email with the offer of post-test GC. Individuals with clinically actionable positive results were sent 2 emails offering post-test GC followed by a third with the results and CAP if there was no response to the first two emails