I do not know my ancestry.

From my first “Introduction to Genetic Counseling” class, colonization and immigration made the question of ancestry complicated for me. As classmates and I practiced obtaining each other’s family histories, my excitement quickly became overshadowed by discomfort when asked to state my ancestry. In clinical rotations, I saw that discomfort mirrored by patients who were unaware of their ancestry or did not understand why the question was being asked. That led me to an important question… should we be asking patients about their ancestry in genetic counseling sessions?

In certain circumstances genetic counseling may be informed by ancestry, such as considering specific carrier risk information, targeted variant testing options, or deciphering uncertain test results. For instance, the same FANCC variant (c.456+4A>T) is associated with severe disease in the Ashkenazi Jewish population [1] but is not associated with a severe phenotype in Japanese populations [2]. Another example is ordering BRCA1/BRCA2 testing for individuals with Portuguese ancestry as one of the two common variants can be difficult to detect using standard methodologies [3]. It is clear there are situations in which ancestry can inform genetic counseling, but these are not always applicable.

A lack of genetic data from most populations outside a select few ancestral groups limits the use of ancestry data to inform risks or decipher test results for many individuals. Additionally, as comprehensive panel-based genetic testing is widely available, the utility of collecting ancestry is further called into question. Countless individuals, especially people of color like myself, may not know their ancestry. Inquiring about this information can be potentially embarrassing and even alienating to many of our patients. In turn, this may negatively affect rapport between a patient and genetic counselor, making it difficult to meet the goals of a session. Adding to these concerns, race and ethnicity are terms often (incorrectly) used interchangeably with ancestry.

As I look to the future, I plan to take a case-by-case approach to the collection of ancestry. If the indication for testing requires this knowledge, then I will ask about ancestry but also explain the reasons for doing so. Providing an explanation for why I am asking about ancestry will involve patients in the process and provide context to hopefully prevent discomfort. Additionally, for patients who are uncertain of their ancestry, it is inaccurate to ask about race as a proxy. I hope to be a part of continued conversations around the of use ancestry information in genetic counseling and aim to support the diverse communities we serve. Most importantly, I plan to center intentionality in my use of questions about ancestry.

References

[1] Gillio, A. P., Verlander, P. C., Batish, S. D., Giampietro, P. F., & Auerbach, A. D. (1997). Phenotypic Consequences of Mutations in the Fanconi Anemia FAC Gene: An International Fanconi Anemia Registry Study. Blood, 90(1), 105–110. https://doi.org/10.1182/BLOOD.V90.1.105

[2] Futaki, M., Yamashita, T., Yagasaki, H., Toda, T., Yabe, M., Kato, S., … Nakahata, T. (2000). The IVS4 + 4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood, 95(4), 1493–1498. https://doi.org/10.1182/BLOOD.V95.4.1493.004K35_1493_1498

[3] Peixoto, A., Santos, C., Pinto, P., Pinheiro, M., Rocha, P., Pinto, C., … Teixeira, M. R. (2015). The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. Clinical Genetics, 88(1), 41–48. https://doi.org/10.1111/CGE.12441

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