North American genetic counselors' approach to collecting and using ancestry in clinical practice

Abstract

Race, ethnicity, and ancestry are the most common diversity measures used in a medical setting. Race reflects a purely social identity dependent on physical differences that are considered distinct by a cultural group. Ethnicity is a cultural identity which can be based on a variety of shared qualities, such as language, ancestry, and beliefs.Ancestry is a genetic concept which describes the origin of an individual's line of descent or country of origin. While used interchangeably in some contexts, each term serves to define a different aspect of human diversity.Ancestry has been traditionally assessed by genetic counselors based on the varying frequencies of certain genetic conditions between ancestral groups. For example, individuals of Ashkenazi Jewish

Evolving cardiovascular genetic counseling needs in the era of precision medicine

“…They collect detailed patient and family medical history, assess risk for cardiovascular disease, and select appropriate genetic tests and communicate guideline-based family screening recommendations. In this process patient ancestry considerations can be valuable ( 7 ), since founder variants associated with distinct pathological features are reported for different populations (e.g., TMEM43 p. S358l in Newfoundlanders; MYBPC3 c.927-2A > G in Icelanders) ( 8 , 9 ), and the frequency of certain CVD, such as Brugada syndrome, can vary across populations ( 10 ).…”

Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder Views

“…Studies exploring provider perspectives on genetic ancestry testing are limited, with no research examining their views on its potential utility in the EHR. [19][20][21][22] Literature on patient perspectives has found mixed opinions on genetic ancestry testing and its impact on personal identity. [23][24][25][26] The increasing availability of genetic testing is driving a growing interest in personalized medicine.…”