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…’ ”
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.
More posts featuring Ed Esplin.
