Coordinating an Oncology Precision Medicine Clinic Within an Integrated Health System: Lessons Learned in Year One

Autor: Michael A. Thompson, Jennifer J. Godden, Deborah Wham, Antony Ruggeri, Michael P. Mullane, Amanda Wilson, Shamsuddin Virani, Scott M. Weissman, Brenda Ramczyk, Pamela Vanderwall, James L. Weese

Publikováno v: Journal of Patient-Centered Research and Reviews, Vol 6, Iss 1, Pp 36-45 (2019)

Precision medicine is a term describing strategies to promote health and prevent and treat disease based on an individual’s genetic, molecular, and lifestyle characteristics. Oncology precision medicine (OPM) is a cancer treatment approach targetin

Externí odkaz: https://doaj.org/article/1a605aa69b70462c8b16525678273cea

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Autor: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

Publikováno v: BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

Externí odkaz: https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Autor: Sienna Aguilar, Ora K. Gordon, Anne Slavotinek, Robert C. Green, Steven Tucker, Jessica Y. J. Gu, Eden Haverfield, Stephanie L. Hines, Steven B. Bleyl, Andrea Hanson-Kahn, Teresa M. Kruisselbrink, Robert L. Nussbaum, Bryce A. Mendelsohn, Edward D. Esplin, Paldeep S. Atwal, Kathryn E. Hatchell, Swaroop Aradhya, Sarah K. Macklin-Mantia, Scott M. Weissman, Michele Kettles, Kelly E. Ormond, Lea Velsher, Peter J. Hulick, Caron W.-M. Sak, Christopher Abel

Publikováno v: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)
BMC Medicine

Background The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogeni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fadf76aaada9bbc9152843a5949f01de
https://doi.org/10.1186/s12916-021-01999-2

At-home genetic testing in pediatrics

Autor: Brianne Kirkpatrick, Scott M. Weissman, Erica Ramos

Publikováno v: Current opinion in pediatrics. 31(6)

This review discusses the state of at-home genetic testing, including both direct-to-consumer and consumer-directed genetic testing, for children.At-home genetic testing continues to increase in popularity and laboratories are starting to offer tests

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7858f4360d972c713bbd6c159bd359
https://pubmed.ncbi.nlm.nih.gov/31693579

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Autor: Scott M. Weissman, Martha Quezado, Katia Nones, Manuel A. R. Ferreira, Florian Grimpen, Sue Healey, Kelly Hamman, Samantha Hansford, Kasmintan A. Schrader, Anne Marie Patch, Itzhak Avital, Daniel L. Worthley, Pardeep Kaurah, Robertson MacKenzie, Juliet D. French, Evangelos Bellos, Jun Li, Kevin P. Rioux, George Chong, Georgia Chenevix-Trench, Leonard Da Silva, Kathleen A. Calzone, Graeme Suthers, Deborah W. Neklason, Andrew D. Clouston, Hilary C. Martin, Paul S. Meltzer, Jone E. Sampson, Kerry Phillips, Oliver F. Bathe, Theo Heller, Nicola K. Poplawski, Stacey L. Edwards, Peter T. Simpson, Alireza Heravi-Moussavi, David G. Huntsman, Janine Senz, Mark Bettington, Jonathan Beesley, Nicci Wayte, Tamsin R M Lannagan, Xiaoqing Chen, Wendy S. Rubinstein, Lyn Schofield, David E. Goldgar, Christopher Koh, Noralane M. Lindor, Lachlan J. M. Coin, Marie Jeanjean, Joshua J. Waterfall, Pavel N. Pichurin, Amanda B. Spurdle, Sylviane Olschwang, John V. Pearson, Udo Rudloff, Fátima Carneiro, Nicola Waddell, Sunil R. Lakhani, Rita A. Busuttil, Susan L. Woods, Anna Newlin, Haran Sivakumaran, Natasha Di Costanzo, Aurélie Fabre, Xiaogang Wen, Geoffrey J. Faulkner, Jason Sang Hun Lee, Robert L. Walker, Cathy Kiraly-Borri, Peter J. Hulick, Marbin Pineda, Sean Davis, Alex Boussioutas, William D. Foulkes, Jacqueline Armstrong

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩
American Journal of Human Genetics, 2016, 98 (5), pp.830-842. ⟨10.1016/j.ajhg.2016.03.001⟩

International audience; Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal-dominant cancer-predisposition syndrome with a significant risk of gastric, but not colorectal, adenocarcinoma. We mapped the gene to 5q22 an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdd9f9388260e86a9d46ca0872f4fba
https://doi.org/10.1016/j.ajhg.2016.03.001