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RESEARCH: Uptake of Genetic Counseling for Consumer-Initiated Genetic Testing

Uptake of Genetic Counseling for Consumer-Initiated Genetic Testing: A Chart Review (link to poster)

Authors: Nori Williams, MS, CGC, Molly Fitzparick, BS, 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 approval or rejection, and post-test clinical support. Recently, articles have been citing a shortage of genetic counselors to serve this population. The profession of genetic counseling has grown by over 100% in the past ten years and this pattern is projected to repeat itself, rendering the shortage narrative a myth. Yet, the myth is propagated and genetic counselors are being trained at exponential rates to meet the so-called need.

Purpose: We sought to determine the uptake of genetic counseling services in this population to provide insight on the perceived value of genetic counseling by people ordering CIT.

Methods: An anonymized list of positive results from 3/1/19- 3/1/20 was pulled from an internal records system. The orders were analyzed to determine if a consultation with a genetic counselor was required for high-risk abnormals per PWN-developed clinical protocols. The outreach protocol consists of three emails sent to the patient over the course of 14 days with a link to schedule an appointment, after which a certified letter is sent if no consultation is scheduled. If a patient cancels or does not attend their scheduled appointment, they are sent an additional email followed by a certified letter encouraging them to reschedule.

Results: A total of 61,864 patients had positive genetic testing results across 15 clients. 1,028 patients had high-risk results that required consultations and were contacted to schedule an appointment. Of those, 79% (813) scheduled a consultation with a genetic counselor and 70.5% (725) completed a consultation. Of the 813 patients who scheduled the required consultation, 10.8% (88) did not complete the consultation because they either canceled or did not attend their scheduled appointment. There was a small percentage of patients with low-risk abnormal results (0.18%;114), that scheduled a consultation with a genetic counselor to discuss their results even though their results did not require genetic counseling.

Conclusions:  The majority of patients with high-risk results complete genetic counseling consultations. Without proactive outreach, few people with low-risk abnormal results scheduled a consult. The low uptake of genetic counseling services for cases in which outreach was not conducted reveals an issue of perceived value.