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RESEARCH: A Snapshot of Consumer-Initiated Genetic Testing: A Demographic Chart Review

A Snapshot of Consumer-Initiated Genetic Testing: A Demographic 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 the demographics of individuals ordering CIT.

Methods: A complete list of anonymized orders from March 1, 2019 – March 1, 2020, from companies offering CIT through CLIA-approved labs reviewed by an independent company, were pulled from an internal records system and reviewed for their demographic information. This included: self-reported gender, age, ethnicity/ancestry, and geography. Age was further classified into groups defined as: 0-1 infant, 2-12 child, 13-17 teen, 18-29 young adult, 30-64 adult, ≥ 65 senior. Geographical location was listed by state and further categorized by regions recognized by NSGC.

Results: 144,261 orders were placed with at least one coming from each of the 50 states. The most orders (31,475; 21%) came from region 6, the West. The age group that most commonly ordered a test was the adult group (67%), followed by seniors (19%). More women than men order CIT: 91,807 females (64%), 52,449 males (36%),which is statistically significant (one proportion calculator; z-statistic 540.243;Significance level  P < 0.0001; 95% CI of observed proportion 35.75% to 36.25%). Of note, the majority of our sample is not prompted to input their ethnicity/ancestry, as the test they ordered assesses it as well as health characteristics (124,916; 87%). By removing these for the remaining calculations, we describe the reported ancestry/ethnicity of those prompted. White/Caucasian (13,801; 71%) was most commonly self-reported. 4% (760) identified as Hispanic or Latino, 2% (340) identified as Black/African American, and 0.1% (19) identified as Asian. The remaining 23% described combinations of ancestry across ethnicities and regions.

Conclusions: It is interesting that 1 in 5 orders came from senior citizens given that genetic conditions are typically associated with early age of onset even when considering age-penetrant conditions. Additionally, the occurrence of unique ancestry responses may indicate that people who order CIT found a gateway to genetic testing by interest in uncovering their ancestry. In the end, our data shows that consumer-initiated testing has made it to every corner of the United States and appeals to people across age groups and ethnicities.