Short guideline on the use and reporting of race/ethnicity/ancestry 
in IGES abstracts and papers to promote inclusion diversity and equity

1 - Avoid using terms that lend themselves to misinterpretation

The term “ancestry” refers to genetic origins, whereas “ethnicity” represents a social grouping. The widely used term “race” is more problematic as it has both a genetic and a social component [17]. 

Specific Recommendations:

  • Choose and define your terminology carefully. Although “race” is sometimes used to denote a social grouping, its use can lead to an overemphasis on “biological” differences. We encourage the use a better terminology that avoids the use of the term “race” to the extent possible [6,8-9,13]. 
  • Avoid using controversial terms such as “Caucasian”, which originated in the 18th century and was used to give supposedly scientific support to racist justifications of European supremacy. Avoid the term “Middle Eastern”, originating from European colonialism; consider using geographically informed alternatives, such as “Southwest Asian” or “Northeast African” [8].
  • Avoid generalization, and instead use population-specific labels that are consistent with the population’s self-characterization. Be aware that ethnic categories may vary from region to region, and respect local terminology [8-9,16].
  • Avoid inferring genetic ancestry from socially determined groupings and vice versa [6,8,16].

2 - Justify any use of population groupings

Socially determined groupings can be very useful to support the representation of diverse populations in research, but they can also be misused to support discriminatory narratives [13]. Use these categories carefully, in a manner that is appropriate for the relevant scientific question(s) and that avoids perpetuating the mistaken belief that socially constructed groups have biological differences [9].

Specific Recommendations:

  • Provide a rationale and justify the use of any population groupings relative to the research question [12,16].
  • To the extent possible, measure social, economic, environmental, biological, or genetic factors directly, rather than relying on social groupings as proxies alone [9, 16].

3 - Be cautious when ascribing trait differences to genetic ancestry 

Genetic ancestry composition of individuals often correlates with socioeconomic, cultural, and behavioral factors. Moreover, genome-wide average ancestry (“global ancestry”) of individuals can be arbitrary as it varies based on the reference genetic samples used [8,13]. 

Specific Recommendations:

  • Avoid generalizations that invoke “genetic” explanations for group differences based on observed associations of global ancestry with trait differences between populations (such as health disparities) [13,16]. 
  • Adjust for sociodemographic and other correlates of ancestry when testing for associations between ancestry proportions and traits (e.g., admixture studies). Findings must be cautiously interpreted in the context of unaccounted factors [8,14]. 

4 - Be inclusive

Groups who do not take part in, or are excluded from, genomic studies are less likely to benefit from medical advances based on genomics. 

Specific Recommendations: 

  • Be inclusive at the study design stage, both in terms of study participants and researchers. Be mindful of both individuals’ and populations’ wishes and consents to be included in a study [18-21].
  • Leverage analysis strategies to include diverse and admixed individuals. Justify the focus on the populations studied [20].

References and Further Study 

  1. ASHG statement: ASHG Denounces Attempts to Link Genetics and Racial Supremacy. Am J Hum Genet. 2018;103(5):636.
  2. ESHG Statement: ESHG joins ASHG in Denouncing Attempts to Link Genetics and the Concept of Racial Supremacy. 10/22/2018. Link 
  3. NHGRI's statement: The use of racial, ethnic, and ancestral categories in human genetics research. Am J Hum Genet. 2005;77(4):519-32.
  4. Nature Genetics statement: Racism and the status quo. Nat Genet. 2020;52:641
  5. Book: How to argue with a racist: what our genes do (and don't) say about human difference. By Adam Rutherford, published by Weidenfeld & Nicolson, 2020

Race and ancestry in genomics

     6. Taking race out of human genetics. Yudell M et al. Science. 2016;351(6273):564-5. 

  • Authors discuss the role of race in genetic research, the current state of our community.
  • Recommendations for appropriate uses and reporting.
     7. Genes, race and research ethics: who's minding the store? Hunt LM and Megyesi MS. J Med Ethics. 2008;34(6):495-500.
  • Semi-structured interviews with genetic researchers on conceptualisation and use of racial/ethnic variables in their work.
  • Authors conclude that ethical oversight is left to genetic researchers themselves, but that they are ill equipped to take on this responsibility. 
     8. The use of racial, ethnic, and ancestral categories in human genetics research. Race, Ethnicity, and Genetics Working   Group, NHGRI. Am J Hum Genet. 2005;77(4):519-32.
  • Origin of modern humans, distribution of genetic variation and population structure, physical variation, its social interpretation over time.
  • Role in genetic research, racial identity in health, allelic architecture of disease.
     9. Conceptualizing human variation. Keita SO et al. Nat Genet. 2004;36(11 Suppl):S17-20. 
  • Relationship between the patterns of biological and sociocultural variation.
  • Human genome variation, demographic groups and disease.

Race and ancestry in pharmacogenomics/personalized medicine

     10. Race and Pharmacogenomics-Personalized Medicine or Misguided Practice? Goodman CW, Brett AS. JAMA. 2021;325(7):625-626.
  • Lists practical examples in which attempted pharmacogenomic screening by race lead to flawed conclusions.
  • Describes untoward clinical and social stereotyping consequences of race-based or ancestry-based pharmacogenetic decision-making and recommends moving forward with individualized genetic screening.
     11. Will Precision Medicine Move Us beyond Race? Bonham VL et al. N Engl J Med. 2016 26;374(21):2003-5. 
  • Discusses major hurdles related to equitable precision medicine such as limited inclusion of diverse groups in studies, cost, and availability of population descriptors beyond race in clinical practice.
  • Outlines directions to help precision medicine be accessible for all people.

     12. Pharmacogenomics and the (ir)relevance of race. M A Rothstein, P G Epps. Pharmacogenomics J. 2001;1(2):104-8. 

  • Discusses the complex relationships between race/ethnicity, between-group vs within-group similarities and differences in genetic variation, and motivations for drug development and pharmacologic research.

Race, ethnicity, and ancestry in medical research

     13. Race and Genetic Ancestry in Medicine - A Time for Reckoning with Racism. Borrell LN et al. N Engl J Med 2021; 384:474-480.

  • The authors state that eliminating the use of race/ethnicity in biomedical research or clinical practice could exacerbate health inequities.
  • Race/ethnicity and genetic ancestry provide complementary information, with race/ethnicity potentially measuring and addressing nongenetic causes of health inequities.

     14. Recalibrating the Use of Race in Medical Research. Ioannidis JPA et al. JAMA. 2021;325(7):623-624. 

  • The authors discuss the importance of comprehensively considering the clinical and social consequences of race-related research, including the potential to ameliorate or aggravate existing health inequities.

     15. Hidden in Plain Sight—Reconsidering the Use of Race Correction in Clinical AlgorithmsVyas DA et al. N Engl J Med 2020; 383:874-882.

  • The authors discuss the importance of researchers and clinicians distinguishing “between the use of race in descriptive statistics, where it plays a vital role in epidemiologic analyses, and in prescriptive clinical guidelines, where it can exacerbate inequities.”

     16. Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research. Bonham VL et al. JAMA. 2018; 320(15):1533-1534. 

  • The authors state that the use of race/ethnicity in genomics research could misrepresent the complexities of social identity, ancestry, socioeconomic status, and health.
  • It is crucial for genomic investigations to avoid inappropriately describing racial and ethnic groups as discrete genetic groups.

Inclusion in genomics – workforce and research participants

     17. Embracing Genetic Diversity to Improve Black Health. Oni-Orisan et al. N Eng J Med. 2021 DOI: 10.1056/NEJMms2031080

  • Lessons learned and shared from five Black male geneticists on the perspective of genetics at the interface of race, ancestry and health disparities. 

     18. The genomics workforce must become more diverse: a strategic imperative. Bonham VL and Green ED. Am J Hum Genet. 2021;108(1):3-7. 

  • NHGRI’s action agenda for building a diverse genomics workforce.

     19. The Missing Diversity in Human Genetic Studies. Sirugo G et al. Cell. 2019;177(1):26-31. 

  • Impact of European bias in genetics for risk prediction across global populations, including Mendelian genetics, complex traits, PRS and pharmacogenetics.

     20. Prioritizing diversity in human genomics research. Hindorff LA et al. Nat Rev Genet. 2018;19(3):175-185. 

  •  Lessons learned on diversity and recommendations towards more inclusion and diversity in genetic research.

     21. The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Popejoy AB et al. Hum Mutat. 2018;39(11):1713-1720.

  • Quantification of the information disparity among populations in clinical genetics registries and recommendations for improvement.