Citations 2
Association of a Polygenic Risk Score with Diagnosis and Outcomes in Idiopathic Pulmonary Fibrosis
Kalra, S. , Grilli, Christopher, Coombes, Brandon J. , Armasu, Sebastian M. , Upjohn, D, Egan, Jan B. , Chen, Qingwen , Tern, Courtney , Zhang, Chengyue, Rose, Jonathan A. , Putman, Rachel, McDermott, Greg, Hsieh, Yuli Lily , Bublitz, Michele L., Carmona, Eva M. , Klee, Eric W, Lazaridis, K, Peljto, Anna L. , Schwartz, D A, Silverman, Edwin K. , Olson, Janet, Walker, T, Zamora, Ana C., Zein, Joe , Ortega, V E, Cohort, Tapestry, McDermott, Gregory C , Kalra, Sean S , Grilli, Christopher B , Armasu, Sebastian , Upjohn, David P , Hsieh, Yuli L , Lasky-Su, Jessica , Silverman, Edwin K , Allen, Richard J , Walker, T'Nita, Wain, Louise V , Zamora, Ana, Zein, Joe G, Hunninghake, Gary M , Moll, Matthew , Cho, Michael H , Carmona, Eva M , McDermott, Gregory , Coombes, Brandon J , Putman, Rachel K. , Kn, Lazaridis, Lasky‐Su, Jessica , Dudbridge, Frank , Allen, Richard J. , Olson, JA, Hunninghake, Gary M. , Ali, Ahmad Hafiz , Sekulić, Aleksandar , Athreya, Arjun P. , Clermont, Blake J, N, Brittany, Burnap, Graddy, Courtney B., Cahn, Elliot, Klee, Eric W. , Sicotte, Hugues , Ekpoh, Idara U., Frank, Jacob A., Bruflat, Jamie K., Kemppainen, Jennifer L., Samadder, Jewel, Presutti, John J, Leitzke, Jon W, Lazaridis, Konstantinos N. , Tree, Kristine M, Jones, Leila A, Bandel, Lorelei A. , Karow, Mary E., Peterson, Melanie M., Bublitz, Michelle L. , Morales-Rosado, Joel, Erwin, Nate P., Larson, Nicholas B. , Olson, Rory, Vierkant, Robert A., Pignolo, Robert J. , Safgren, Stephanie, Bagaria, Sanjay P. , Tian, Shulan , Kaggal, Suneetha, Walker, T'Nita S., Wilson, Tammy A., McAllister, Tammy M., Tan-Arroyo, Jennifer, Luehrs, Tony, Ortega, Victor E. , Chen, Wenan , Cho, Michael H.
American Journal of Respiratory and Critical Care Medicine | July 2, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Rationale Idiopathic Pulmonary Fibrosis (IPF) is characterized by chronic progressive pulmonary fibrosis and high mortality. Genetic markers, summarized into a polygenic risk score (PRS), associate with IPF in well-phenotyped research cohorts. Objectives To evaluate the performance of the PRS using real-world data from routinely captured electronic healthcare records. Methods We conducted an observational study evaluating the association of a PRS for IPF with electronic healthcare record diagnosis of IPF as well as lung transplant-free survival in four independent cohorts; the Mass General Brigham Biobank (MGBB), Mayo Clinic Biobank (MCBB), Mayo Clinic Tapestry Cohort (Tapestry), and U.K. Biobank (UKBB). We used multivariable logistic regression and multivariable Cox proportional hazards models adjusting for age, gender, and principal components of ancestry. The cohorts then underwent fixed and random effects meta-analysis. Measurements and Main Results Of 37,709; 44,195; 43,202; and 447,422 participants from MGBB, MCBB, Tapestry and UKBB respectively, 1,015 (2.7%) 2,879 (6.5%), 1,310 (3.0%), and 2,742 (0.6%) participants had an IPF diagnosis. Meta-analysis demonstrated a high-risk PRS associated with IPF diagnosis, OR 2.88 (95%CI 2.41-3.44) compared to all other individuals. A high-risk PRS also associated with the composite endpoint of mortality or lung transplant among those with an IPF diagnosis, HR 1.23(95%CI 1.11-1.35) compared to all other individuals. Conclusions A PRS can identify those at risk for an IPF diagnosis and mortality in biobank-scale data, which may have implications for clinical decisions. Further work is necessary to evaluate the utility of adding genetics in clinical settings.
Development of an Undiagnosed Mass Registry: Lessons Learned From Our First 100 Patients
Ressler, Steven W. , Croghan, Ivana T. , Girardo, Marlene , Fasolino, John P., Gilman, Elizabeth A. , Erwin, Nate P., Dawson, Nancy L. , Irizarry-Alvarado, Joan M., Ghosh, Karthik, Hurt, Ryan T. , Gilman, Elizabeth A , Ressler, Steven W
Journal of Primary Care & Community Health | March 13, 2025 | Volume: 16 | Issue: No issue available | Pages: No page available
Introduction: The Undiagnosed Mass Clinic (UMC) at our institution is a clinical and research program created to address gaps in the early diagnostic phase of the cancer care continuum for patients with potential malignant neoplasms. All patients referred to the UMC are invited to participate in the UMC registry, which tracks operational and clinical metrics while maintaining a repository of blood and tissue specimens for future research. Methods: We conducted a retrospective cohort study of the first 100 patients enrolled in the UMC registry. We analyzed patient demographics, final diagnoses, and the time from initial consultation to final diagnosis. Results: Most participants were White (86%), non-Hispanic (93%), and married (72%). The mean (SD) age was 64 (13.9) years. The final diagnoses of the masses were categorized as malignant/neoplastic with malignant potential (n = 53), benign (n = 36), or requiring diagnostic surveillance (n = 10). The mean (SD) time from initial consultation to final diagnosis of malignant/neoplastic with malignant potential masses significantly improved from 37.4 (36.6) days for the first 50 participants to 17.3 (19.7) days for the next 50 participants ( P = .006). Conclusions: These initial insights from the UMC registry will help direct future efforts to improve the care of patients with potential malignant neoplasms.