Date Degree Awarded

Spring 5-15-2020

Degree Type

Restricted to Claremont Colleges Master's Thesis

Degree Name

Master of Science in Human Genetics and Genetic Counseling

First Thesis/Dissertation Advisor

Emily Quinn, MS, CGC

Second Thesis/Dissertation Advisor

Jamie Zdrodowski, CGC

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Terms of Use for work posted in Scholarship@Claremont.


Direct-to-consumer (DTC) testing provides consumers access to genetic testing without involvement or advice from a genetics specialist. While the expansion of DTC testing has increased consumer access to genetic interpretations, these reports can often provide a false sense of security and rarely cover enough genetic information to make significant interpretations about disease risk. Patient-initiated testing involves consumers seeking out and ordering more comprehensive genetic testing on a cash pay basis. A patient’s self-reported medical and family history is reviewed by a clinician before the test is ordered. These tests are often similar to clinically ordered genetic tests, including large panels to understand hereditary cancer risk and reproductive risks through carrier screening. If consumers hope to make health-related decisions based on testing, involving a genetics professional can be a valuable way to help interpret and explain limitations of genetic testing results. The purpose of this study was to examine genetic counselors’ opinions about how genetic counseling sessions may change an individual’s understanding, perceived value, and anxiety related to direct-to-consumer (DTC) and/or patient-initiated genetic testing. Most genetic counselors surveyed agreed that pre-test counseling with a genetic counselor is necessary for consumers to have informed consent before ordering patient-initiated testing. Over 80% agreed that as DTC and patient-initiated testing options expand, the need for genetic counselors is going to increase. Fewer than half of genetic counselors supported consumers being able to self-order clinical testing of the ACMG 59 gene list, and even fewer supported consumers being able to self-order clinical testing of larger panels, including genes outside of the ACMG 59 gene list. About one third of genetic counselors agreed that speaking with a genetic counselor after receiving patient-initiated test results should be optional. Fewer than 10% of genetic counselors agreed that consumers understand the possible test results before ordering patient-initiated testing and that consumers ordering patient-initiated testing understand the health-related implications of a negative result. Fewer than 20% of genetic counselors agreed that consumers ordering patient-initiated testing understand the health-related implications of a positive result and how patient-initiated test results apply to family members. None of the genetic counselors surveyed felt that consumers understand the implications for long-term care, life, and disability insurance before ordering patient-initiated testing. A series of paired samples t-test revealed that respondents estimate that, following genetic counseling regarding direct-to-consumer test results, there are statistically significant improvements in understanding medical significance, limitations of DTC testing, how genetic variants can affect health and disease risk, and result reports (p’s < 0.05).

Rights Information

2020 Jennifer R Hull