Motivations For Ordering Consumer-Initiated Genetic Testing: A Chart Review (link to poster)
Authors: Nori Williams, MS, CGC, Robin H. King, MS, CGC, Paldeep S. Atwal, MD
Introduction:Utilization of at-home genetic testing has increased rapidly in recent years. Two models make up the at-home market: direct-to-consumer (DTC) and consumer-initiated-testing (CIT) models. PWNHealth’s support of CIT includes pre-test review by a genetic counselor, physician evaluation for approval or rejection, and post-test clinical support.
Purpose: We sought to describe motivations for ordering CIT.
Methods: A complete list of anonymized CIT orders from March 1, 2019 – March 1, 2020 for all supported tests, ranging from traditionally ancestry tests with added health conditions, healthy adult panels, carrier screening, pharmacogenomics testing, APOE testing, and supplemental newborn screening options were pulled from an internal records system and reviewed for their primary reason for testing, self-selected from a drop-down menu.
Results: Of 144,261 total orders of consumer-initiated genetic tests across 17 different tests performed in CLIA-approved laboratories, 59% (n=84,528) of people responded with the most commonly selected motivation: “I’m interested in my health.” People tended to select more abstract options (0, 5, 16, 17) indicating their interest in learning about themselves (93,202;65%), instead of options (1, 2, 3, 4, 6, 7, 9, 10, 11, 18, 19) that cited specific risks or lived experiences like family histories (18,853;13%), and even fewer chose directives from outside sources like a doctor or being the recipient of a gift (10,705;7%). Another 1% (n=1,019) chose “Other” and were provided a free-write option. There were some themes although many were unique. Most indicated they were ordering testing for reproductive screening (44%;452), and 8% were in search of information on family members because they were adopted (4%;44) or did not know their family (4%;37). 14% of our cohort declined to respond with their motivations, either by leaving the question blank (20,482) or citing their motivations as too personal to disclose (74).
Conclusions: Consumers were interested in learning about health in the abstract versus understanding the cause of a personal health history, which is appropriate given these tests are designed as screening tools and not as diagnostic tests. People see these tests as opportunities to gain information about themselves, not necessarily something which may reveal a life-changing genetic diagnosis.