Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

BMC Genetics

Research Article

Rita Vassena¹  Arun Manoharan²  Sarah Yarnall²  Sally Ann Rodriguez²  Neha Kumar²  Shahin Ghadir³  Jamie Grifo⁴  Avner Hershlag⁵  David Hoffman⁶  Serena H. Chen⁷  Roman Shraga⁸  Mohammad Niknazar⁸  Oscar Puig⁸  Sara L. Bristow⁹  Sonya Elango^1,10 

[1] Clinica Eugin, Barcelona, Spain;CooperGenomics, Livingston, NJ, USA;Department of Obstetrics and Gynecology, The David Geffen School of Medicine at UCLA, California, Los Angeles, USA;Division of Reproductive Endocrinology & Infertility, Department of Obstetrics and Gynecology, NYU Langone, New York, NY, USA;Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, Manhasset, NY, USA;IVF Florida Reproductive Associates, Margate, FL, USA;Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, Livingston, NJ, USA;Phosphorus, Inc, 25 West 26th St, 10010, New York, NY, USA;Phosphorus, Inc, 25 West 26th St, 10010, New York, NY, USA;Northwell Fertility, North Shore University Hospital, Manhasset, NY, USA;Sarah Lawrence College, Bronxville, New York, USA;

关键词: Ancestry informative markers;    Genetic risk;    Carrier screening;    Ethnicity;   

DOI  :  10.1186/s12863-017-0570-y

 received in 2017-02-13, accepted in 2017-11-16,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundCurrent professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance.ResultsWe identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity.ConclusionOur analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks.

【 授权许可】

CC BY   
© The Author(s). 2017