Jennifer Y Pan1, Robert W Haile2, Allyson Templeton3, Finlay Macrae4, FeiFei Qin5, Vandana Sundaram5, Uri Ladabaum6. 1. Department of Medicine, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Palo Alto, California; Division of Gastroenterology, Department of Medicine, Veterans Affairs Palo Alto Health Care System, Palo Alto, California. Electronic address: jenpan@stanford.edu. 2. Department of Medicine, Division of Hematology/Oncology, Cedars-Sinai Medical Center, Los Angeles, California. 3. International Mismatch Repair Consortium, Fred Hutchinson Cancer Research Center, Seattle, Washington. 4. Department of Medicine, University of Melbourne, Melbourne, Australia; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia. 5. Quantitative Sciences Unit, Stanford University School of Medicine, Palo Alto, California. 6. Department of Medicine, Division of Gastroenterology and Hepatology, Stanford University School of Medicine, Palo Alto, California.
Abstract
BACKGROUND & AIMS: Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts. METHODS: We collected data from the International Mismatch Repair Consortium (IMRC), which comprises major research and clinical groups engaged in the care of families with Lynch syndrome worldwide. IMRC institutions were invited to complete a questionnaire to characterize diagnoses of Lynch syndrome and management practice patterns. RESULTS: Fifty-five providers, representing 63 of 128 member institutions (49%) in 21 countries, completed the questionnaire. For case finding, 55% of respondents reported participating in routine widespread population tumor testing among persons with newly diagnosed Lynch syndrome-associated cancers, whereas 27% reported relying on clinical criteria with selective tumor and/or germline analyses. Most respondents (64%) reported using multigene panels for germline analysis, and only 28% reported testing tumors for biallelic mutations for cases in which suspected pathogenic mutations were not confirmed by germline analysis. Respondents reported relying on passive dissemination of information to at-risk family members, and there was variation in follow through of genetic testing recommendations. Reported risk management practices varied-nearly all programs (98%) recommended colonoscopy every 1 to 2 years, but only 35% recommended chemoprevention with aspirin. CONCLUSIONS: There is widespread heterogeneity in management practices for Lynch syndrome worldwide among IMRC member institutions. This may reflect the rapid pace of emerging technology, regional differences in resources, and the lack of definitive data for many clinical questions. Future efforts should focus on the large numbers of high-risk patients without access to state-of-the-art Lynch syndrome management.
BACKGROUND & AIMS: Families with a history of Lynch syndrome often do not adhere to guidelines for genetic testing and screening. We investigated practice patterns related to Lynch syndrome worldwide, to ascertain potential targets for research and public policy efforts. METHODS: We collected data from the International Mismatch Repair Consortium (IMRC), which comprises major research and clinical groups engaged in the care of families with Lynch syndrome worldwide. IMRC institutions were invited to complete a questionnaire to characterize diagnoses of Lynch syndrome and management practice patterns. RESULTS: Fifty-five providers, representing 63 of 128 member institutions (49%) in 21 countries, completed the questionnaire. For case finding, 55% of respondents reported participating in routine widespread population tumor testing among persons with newly diagnosed Lynch syndrome-associated cancers, whereas 27% reported relying on clinical criteria with selective tumor and/or germline analyses. Most respondents (64%) reported using multigene panels for germline analysis, and only 28% reported testing tumors for biallelic mutations for cases in which suspected pathogenic mutations were not confirmed by germline analysis. Respondents reported relying on passive dissemination of information to at-risk family members, and there was variation in follow through of genetic testing recommendations. Reported risk management practices varied-nearly all programs (98%) recommended colonoscopy every 1 to 2 years, but only 35% recommended chemoprevention with aspirin. CONCLUSIONS: There is widespread heterogeneity in management practices for Lynch syndrome worldwide among IMRC member institutions. This may reflect the rapid pace of emerging technology, regional differences in resources, and the lack of definitive data for many clinical questions. Future efforts should focus on the large numbers of high-risk patients without access to state-of-the-art Lynch syndrome management.
Authors: Francis M Giardiello; John I Allen; Jennifer E Axilbund; C Richard Boland; Carol A Burke; Randall W Burt; James M Church; Jason A Dominitz; David A Johnson; Tonya Kaltenbach; Theodore R Levin; David A Lieberman; Douglas J Robertson; Sapna Syngal; Douglas K Rex Journal: Gastroenterology Date: 2014-08 Impact factor: 22.682
Authors: Hans F A Vasen; Mohamed Abdirahman; Richard Brohet; Alexandra M J Langers; Jan H Kleibeuker; Mariette van Kouwen; Jan Jacob Koornstra; Henk Boot; Annemieke Cats; Evelien Dekker; Silvia Sanduleanu; Jan-Werner Poley; James C H Hardwick; Wouter H de Vos Tot Nederveen Cappel; Andrea E van der Meulen-de Jong; T Gie Tan; Maarten A J M Jacobs; Faig Lall A Mohamed; Sijbrand Y de Boer; Paul C van de Meeberg; Marie-Louise Verhulst; Jan M Salemans; Nico van Bentem; B Dik Westerveld; Juda Vecht; Fokko M Nagengast Journal: Gastroenterology Date: 2010-03-02 Impact factor: 22.682
Authors: Aung Ko Win; Joanne P Young; Noralane M Lindor; Katherine M Tucker; Dennis J Ahnen; Graeme P Young; Daniel D Buchanan; Mark Clendenning; Graham G Giles; Ingrid Winship; Finlay A Macrae; Jack Goldblatt; Melissa C Southey; Julie Arnold; Stephen N Thibodeau; Shanaka R Gunawardena; Bharati Bapat; John A Baron; Graham Casey; Steven Gallinger; Loïc Le Marchand; Polly A Newcomb; Robert W Haile; John L Hopper; Mark A Jenkins Journal: J Clin Oncol Date: 2012-02-13 Impact factor: 44.544
Authors: Laura C Beamer; Marcia L Grant; Carin R Espenschied; Kathleen R Blazer; Heather L Hampel; Jeffrey N Weitzel; Deborah J MacDonald Journal: J Clin Oncol Date: 2012-02-21 Impact factor: 44.544
Authors: James G Dowty; Aung K Win; Daniel D Buchanan; Noralane M Lindor; Finlay A Macrae; Mark Clendenning; Yoland C Antill; Stephen N Thibodeau; Graham Casey; Steve Gallinger; Loic Le Marchand; Polly A Newcomb; Robert W Haile; Graeme P Young; Paul A James; Graham G Giles; Shanaka R Gunawardena; Barbara A Leggett; Michael Gattas; Alex Boussioutas; Dennis J Ahnen; John A Baron; Susan Parry; Jack Goldblatt; Joanne P Young; John L Hopper; Mark A Jenkins Journal: Hum Mutat Date: 2013-03 Impact factor: 4.878
Authors: Ravi N Sharaf; Parvathi Myer; Christopher D Stave; Lisa C Diamond; Uri Ladabaum Journal: Clin Gastroenterol Hepatol Date: 2013-05-10 Impact factor: 11.382
Authors: Peter M Rothwell; Jacqueline F Price; F Gerald R Fowkes; Alberto Zanchetti; Maria Carla Roncaglioni; Gianni Tognoni; Robert Lee; Jill F F Belch; Michelle Wilson; Ziyah Mehta; Tom W Meade Journal: Lancet Date: 2012-03-21 Impact factor: 79.321
Authors: Swati G Patel; Dennis J Ahnen; Anita Y Kinney; Nora Horick; Dianne M Finkelstein; Deirdre A Hill; Noralane M Lindor; Finlay MaCrae; Jan T Lowery Journal: Am J Gastroenterol Date: 2016-02-09 Impact factor: 12.045
Authors: Kathleen F Mittendorf; Sarah Knerr; Tia L Kauffman; Nangel M Lindberg; Katherine P Anderson; Heather Spencer Feigelson; Marian J Gilmore; Jessica Ezzell Hunter; Galen Joseph; Stephanie A Kraft; Jamilyn M Zepp; Sapna Syngal; Benjamin S Wilfond; Katrina A B Goddard Journal: JCO Precis Oncol Date: 2021-11-03
Authors: Mohammad Sina; Zeinab Ghorbanoghli; Amal Abedrabbo; Fahd Al-Mulla; Rihab Ben Sghaier; Marie-Pierre Buisine; George Cortas; Ladan Goshayeshi; Andreas Hadjisavvas; Wail Hammoudeh; Waseem Hamoudi; Carol Jabari; Maria A Loizidou; Keivan Majidzadeh-A; Makia J Marafie; Gurbankhan Muslumov; Laila Rifai; Rania Abu Seir; Suzan M Talaat; Berrin Tunca; Hadia Ziada-Bouchaar; Mary E Velthuizen; Ala I Sharara; Aysel Ahadova; Demetra Georgiou; Hans F A Vasen Journal: Fam Cancer Date: 2020-10-24 Impact factor: 2.375