Kottyan, Leah C
Mayo Clinic
Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States.
Citations 2
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study
Liu, Cong , Morse, Jennifer, Linder, Jodell E. , Antoniou, Antonis C. , Carver, Tim , Cortopassi, Josh , Peterson, Josh F. , Ta, Casey , Hoell, Christin , Prows, Cynthia A. , Miller, Emily , Perez, Emma , Jarvik, Gail P, Odgis, Jacqueline A. , Bonini, Katherine E. , McGuffin, Kyle, Maradik, Mary, Limdi, Nita, Marathe, Priya , Suckiel, Sabrina A. , Aguilar, Sienna , Lewis, Toni J., Wei, Wei‐Qi, Freimuth, Robert R, Håkonarson, Håkon , Wiesner, Georgia L. , Jarvik, Gail P. , Carver, Tim , Ta, Casey N , Hoell, Christin , Bland, Sarah T , Kottyan, Leah C , Luo, Yuan , Weng, Chunhua , Hakonarson, Hakon , Jarvik, Gail P , Liu, Cong , Peterson, Josh F , Crew, Katherine D. , Morse, Jennifer, Kenny, Eimear E , Bland, Harris T. , Mittendorf, Kathleen F. , McGuffin, Kyle, Kottyan, Leah C. , Abul‐Husn, Noura S. , Luo, Yuan , Freimuth, Robert R. , Weng, Chunhua , Chung, Wendy K.
JAMIA Open | October 4, 2025 | Volume: 8 | Issue: 5 | Pages: No page available
Abstract Objectives To implementation an automated multi-institutional pipeline that delivers breast-cancer risk integrated with polygenic risk scores, monogenic variants, family history, and clinical factors, emphasizing operational challenges and their solutions. Materials and Methods A five-stage process was executed at ten sites. Data streams from REDCap surveys, PRS and monogenic reports, and MeTree pedigrees were normalized and forwarded through a REDCap plug-in to the CanRisk API. Results Integrated risk was returned to >10 000 women; 3.6% were ≥25 % lifetime risk and 0.9% carried pathogenic variants. Pipeline generated score aligns well with manual generated ones. Major barriers such as heterogeneous pedigree formats, missing data, edge-case handling, and evolving model versions were identified and resolved through mapping rules, imputations, and iterative testing. Discussion Cross-platform data harmonization and stakeholder alignment were decisive for success. Borderline-risk communication and model-version drift remain open issues. Conclusion Large-scale PRS-integrated breast-cancer risk reporting is feasible but requires robust interoperability standards and iterative governance.
The IRF5–TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share
Kottyan, Leah C. , Zoller, Erin E., Bene, Jessica, Lu, Xiaoming , Kelly, Jennifer A. , Rupert, Andrew, Lessard, Christopher J. , Vaughn, Samuel , Marion, Miranda C. , Namjou, Bahram , Adler, Adam, Rasmussen, Astrid , Glenn, Stuart B., Montgomery, Courtney G. , Hirschfield, Gideon M. , Coltescu, Catalina, Amos, Chris, Ice, John A. , Registry, for UK Primary Sjögren's Syndrome, Rischmueller, Maureen , Brun, Johan G. , Gøransson, Lasse G. , Harboe, Erna, Omdal, Roald, Cunninghame‐Graham, Deborah S., Vyse, Tim J., Miceli‐Richard, Corinne , Lessard, James, Wahren‐Herlenius, Marie , Kvarnström, Marika , Illei, Gabor G. , Witte, Torsten, Jonsson, Roland , Nordmark, Gunnel , Ng, Wan‐Fai , Registry, for UK Primary Sjögren's Syndrome, Anaya, Juan‐Manuel , Rhodus, Nelson L., Segal, Barbara, Guthridge, Joel M. , Scofield, R. Hal , Alarcón‐Riquelme, Marta E. , Bae, Sang‐Cheol , Boackle, Susan A., Criswell, Lindsey A. , Gilkeson, Gary S. , Jacob, Chaim O., Kimberly, Robert P. , Brown, Elizabeth E. , Edberg, Jeffrey C., Alarcón, Graciela S. , Reveille, John D. , Vilá, Luis M. , Petri, Michelle , Niewold, Timothy B. , Stevens, Anne M., Tsao, Betty P. , Gorlova, Olga Y. , Wakeland, Ward, Radstake, Timothy R. D. J., Martín, Jose‐Ezequiel , Martı́n, Javier , Siminovitch, Katherine, Sivils, Kathy L., Gaffney, Patrick M. , Langefeld, Carl D. , Harley, John B., Kaufman, Kenneth M. , Niewold, Timothy, Weirauch, Matthew T. , Xie, Gang , Li, He , Nath, Swapan Kumar , Mariette, Xavier , Bowman, Simon , Registry, for UK Primary Sjögren's Syndrome, Lester, Sue , Brennan, Michael Thomas , Eriksson, Per , Registry, for UK Primary Sjögren's Syndrome, Merrill, Joan T. , James, Judith A. , Kamen, Diane L. , Ramsey‐Goldman, Rosalind , Freedman, Barry I. , Ying, Binwu , Mayes, Maureen D. , Hirschfield, Gideon M , Kottyan, Leah C , Guthridge, Joel M
Human Molecular Genetics | September 10, 2014 | Volume: 24 | Issue: 2 | Pages: 582-596