Ed Esplin, Clinical Geneticist and Medical Officer of Invitae, shared a post on X:
“DNA-based health screening [w/germline genetic testing] for all three CDC T1 conditions (i.e. hereditary breast and ovarian cancer, Lynch syndrome/colorectal cancer/CRC, familial hypercholesterolemia)…has been shown to be of high value in lifetime cost-effectiveness simulation models.’
‘…evidence amassed [about]…genetic risks has made a strong case for universal population screening for these conditions.’
‘…universal DNA-based health screening has great potential to overcome current inequalities in genetic diagnosis…’
‘…~15% of lung cancer patients harbor pathogenic germline variants, most frequently in BRCA2, followed by CHEK2, ATM, TP53, BRCA1, and germline EGFR mutations.
Therapies directed at these driver genes represent the cornerstone of precision oncology for NSCLC, w/significant advancements continuously being made in this domain.’ ”
Title: DNA–Based Population Screening for Adults
Authors: Katherine W. Saylor, Sonja A. Rasmussen, Michael F. Murray
Read the Full Article in NEJM Evidence.
Title: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study
Authors: Eden Haverfield, Edward Esplin, Sienna Aguilar, Kathryn Hatchell, Kelly Ormond, Andrea Hanson-Kahn, Paldeep Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W. Sak, Steven Tucker, Steven Bleyl, Peter Hulick, Ora Gordon, Lea Velsher, Jessica Y. Gu, Scott Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce Mendelsohn, Robert Green, Swaroop Aradhya, Robert Nussbaum
Read the Full Article in BMC Medicine.
Title: A data-driven cartography of NSCLC vaccine research: Quantifying the paradigm shift toward immuno-oncology combination therapies
Authors: Huan Liu, Wenwen Lin, Hai Tian, Gang Li, Xiyu Dang
Read the Full Article in Taylor and Francis Online.
Title: Rate of Pathogenic Germline Variants in Patients With Lung Cancer
Authors: Steven Sorscher, Jaclyn LoPiccolo, Brandie Heald, Elaine Chen, Sara L. Bristow, Scott T. Michalski, Sarah M. Nielsen, Alix Lacoste, Emil Keyder, Hayan Lee, Robert L. Nussbaum, Renato Martins, Edward D. Esplin
Read the Full Article in JCO Precision Oncology.
More posts featuring Ed Esplin.
