Recombine at ACMG

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We are always excited to share news of Recombine’s participation in meetings for the medical and scientific community. You may be aware that we are presenting at PCRS 2016. This week, we will also be at the ACMG Annual Clinical Genetics Meeting!

The American College of Medical Genetics and Genomics annual meeting is a platform to share and discuss how developments in genetics and genomics are being integrated into medicine. How can the study of genetics and genomics help us bring better patient care? Recombine is adding to this conversation at ACMG with an original poster: Do You Really Know Your Ethnicity? Comparing Self-Reported and Genetically Predicted Ethnicity: Clinical Implications.

Our study was designed to investigate the accuracy of self-reported ethnicity as a basis for making clinical decisions, specifically regarding genetic carrier screening. While current guidelines recommend carrier screening be offered on the basis of ethnicity, we are entering a time where people are less aware of their specific ethnicity, or less likely to identify with a specific one.

Our study found cases of inconsistency between self-reported ethnicity and genetic ancestry as predicted by a statistical model based on 627 SNPs validated using samples from the 1000 Genome Project. Our findings have important implications for the clinical setting, where it may be beneficial to consider how we define ethnic groups in order to facilitate more accurate reporting and thus appropriate genetic carrier screening. 

 

Will you be at the ACMG meeting this week? Look for poster 323 or find us at booth 603; we would love to meet you!

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About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.