2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing

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This study examines the reliability of clinician entries for patient self-identified race, ethnicity, and ancestry in clinical genetic testing. The collection of this information is routine in medicine and biomedical research but lacks standard guidance. The study analyzes data from a commercial laboratory to compare how patient race, ethnicity, and ancestry are represented in two different settings: multiple-choice questions on a patient portal and multiple-choice and open-ended options on a test ordering form. The researchers aim to demonstrate the limitations of forced multiple-choice categories and suggest open-ended data structures combined with patient-provider conversations for improved precision and accuracy.<br /><br />The study analyzes data from 4,618 patients and finds that most patients had only one unique category that could be mapped across both data collection frameworks. The majority of these patients identified as "white". Patients identified as "hispanic", "pacific islander", and "ashkenazi jewish" were least likely to have the same number of categories across the two frameworks. Patients with "pacific islander" or "american indian or alaska native" were most likely to have a greater number of categories on the test ordering forms.<br /><br />The study also examines the relationship between the number of categories selected on both the test ordering forms and the patient portal and the average proportion of categories missing on either platform. It is observed that more categories are missed on the test ordering forms when patients have fewer total unique categories, while the patient portal is more likely to miss categories when patients have more categories. There are also differences in the categories present on the test ordering forms compared to the patient portal, suggesting that the additional information on the forms may be due to the open-ended text option.<br /><br />In conclusion, this study highlights the inconsistencies in how patient race, ethnicity, and ancestry are represented in clinical genetic testing. The findings emphasize the need for improved data collection methods and the inclusion of open-ended options and patient-provider conversations to enhance the precision and accuracy of patient representation in medical records.

Asset Subtitle

Presenting Author - Alice Popejoy, PhD; Co-Author - Ana Morales, MS, CGC; Co-Author - Dianalee McKnight, PhD, FACMG;

Meta Tag

Ethical Legal and Social Issues

Genetic Diversity

Genetic Testing

Population Genetics

Risk Assessment

Co-Author Ana Morales, MS, CGC

Co-Author Dianalee McKnight, PhD, FACMG

Presenting Author Alice Popejoy, PhD

Keywords

clinician entries

patient self-identified race

ethnicity

ancestry

clinical genetic testing

multiple-choice questions

patient portal

test ordering form

data collection frameworks

patient representation