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Terms such as “race”, “ethnicity”, and “ancestry” are concepts that define human diversity and help to categorize patients in medical settings. Knowing these characteristics of patients sometimes helps practitioners know their risks of certain diseases and how to address them in care. However, authors of a recent study say there is no common and standardized definition of these terms, making it more difficult for researchers and medical providers to understand and use this data in a way that makes sense and is in the best interest of the patient.

A study about this language was conducted by two NIH-funded research collaborations, the Clinical Genome Resource (ClinGen) and the Clinical Sequencing Evidence Generating Research consortium (CSER). They administered survey questions to medical professionals to learn about how they conceptualized the meaning of race, ethnicity, and ancestry. They also asked about how they used and collected patient data pertaining to race, ethnicity, and ancestry. The surveys were given to non-clinical genetics researchers and clinical genetics professionals.

The researchers surveyed 448 professionals working in some kind of genetics field. Some worked directly with patients as genetic counselors, some worked with patient samples in a lab setting, and others were genetics researchers that did not work in a medical setting. All but 87 of the professionals surveyed, however, were clinical.

The survey included 121 questions consisting of both multiple choice and spoken interviews. First, participants were asked about their jobs, duties, and experience in the field. Then, they gathered their demographic data such as their sex, gender, race, ancestry, and ethnicity.

To get a better understanding of how genetics professionals define race, ethnicity, and ancestry, they were asked to rate how well they think certain definitions describe those terms.  For example, do these terms describe a biological group, a cultural group, a genetic lineage group, a lifestyle/behavioral group, a population group, religious group, social identity group, or species group?

Next, they were asked how important they thought it was to order genetic tests for patients. Their choices were, “I’m not sure,” “It depends,” “Important,” and “Very important.” Adding to that, they asked the participants what circumstances might motivate them to order genetic testing.

The last set of questions focused on the importance of race, ethnicity, and ancestry when interpreting the findings of genetic tests. For example, a variant of a certain gene may appear more often in certain groups of people, and that variant may be related to a health condition or disease risk factor. 

The survey results provided the team with at least some baseline information toward efforts to standardize these terms. Many participants believed defining REA as a “religious group” was a poor definition, while a smaller number of participants rated the term “population group” as somewhat of an appropriate definition. The most popular definition was “genetic lineage group,” and participants seemed to think ancestry was more important than race or ethnicity for medical care. The researchers point out how difficult ancestry is to assess, making this an interesting finding.

About half of the participants (217) believed it is important to know the race, ethnicity, and ancestry of patients, the region they come from, and the diseases that afflict those groups and regions in order to best serve them. The results indicated that most of the respondents thought that data pertaining to race, ethnicity, and ancestry “may be necessary” for analyzing genetic results. However, when asked if race, ethnicity, and ancestry were needed for working directly with patients in hospitals or doctors offices, participants revealed mixed opinions. Less than half of participants reported that any of the diversity measures were likely to inform how they communicate to patients.

Based on the feedback from the participants, the majority thought diversity measures were moderately important for communication with patients about genetic tests, ordering tests, and analyzing the results of tests. Furthermore, the majority felt that guidelines would be helpful for the use and collection of this data.

Given the results, it seems that genetics professionals have an inconsistent understanding of race, ethnicity, and ancestry in both clinical professions and research. With that said, the authors explain that these terms must be standardized, justified, and evidence-based in order to prevent bias and inconsistency in medical care and research.

Study Information

Original study: Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures

Study published on: 2 July 2020

Study author(s): Alice B. Popejoy, Kristy R. Crooks, Stephanie M. Fullerton, Lucia A Hindorff, Gillian W. Hooker, Barbara A. Koenig, Natalie Pino, Erin M. Ramos, Deborah I. Ritter, Hannah Wand, Matt W. Wright, Michael Yudell, James Y. Zou, Sharon E. Plon, Carlos D. Bustamante, Kelly E. Ormond

The study was done at: Clinical Genome Resource (ClinGen) and the Clinical Sequencing Evidence Generating Research consortium

The study was funded by: National Human Genome Research Institute (NHGRI) Clinical Genome Resource (ClinGen): 5U41HG009649-03; the Clinical Sequencing Evidence-generating Research (CSER) Coordinating Center: U24HG007307; the UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS): U01HG009599; and a Chan-Zuckerberg Investigator Award (J.Y.Z.).

Raw data availability: Raw survey data not available, other data was from the US Census. Supplemental info contains survey questions. Paper contains the rest.

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