The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice

Familial Cancer
Fred H MenkoEveline M A Bleiker

Abstract

Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing. However, in clinical practice multiple factors may complicate the process of information sharing. We critically evaluated studies on the uptake of presymptomatic genetic testing in both syndromes. A search of relevant MeSH terms and key words in PubMed, Embase and PsycINFO yielded 795 articles published between 2001 and 2017. Thirty of these publications included outcome measures relevant for the current study. Based on information provided by the proband (15 studies) the uptake of presymptomatic genetic testing ranged from 15 to 57% in HBOC, while one study in LS kindreds reported an uptake of 70%. Based on information provided by genetics centres (the remaining 15 studies) the uptake ranged from 21 to 44% in HBOC and from 41 to 94% in LS. However, when genetics centres contacted relatives directly a substantial number of additional family members could be tested. Proband-mediated provision of information to at-risk relatives is a standard proc...Continue Reading

References

Apr 22, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Josephine Wagner CostalasMary B Daly
Dec 9, 2003·Genetic Testing·Cécile BlandyClaire Julian-Reynier
Feb 5, 2004·Journal of Genetic Counseling·Trine Levin BoddPal Moller
May 13, 2004·European Journal of Human Genetics : EJHG·Lucy BrooksD Gareth Evans
Nov 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Bobbi McGivernHoward M Saal
Feb 1, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Andrea Farkas PatenaudeJudy E Garber
Mar 11, 2006·Familial Cancer·Béatrice GodardUNKNOWN INHERIT BRCAs
Nov 16, 2006·Journal of Genetic Counseling·Katherine A SchneiderJudy E Garber
Mar 30, 2007·European Journal of Human Genetics : EJHG·Laura E ForrestMaryAnne Aitken
Feb 9, 2008·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Elena M StoffelSapna Syngal
Feb 21, 2008·European Journal of Human Genetics : EJHG·Susan M HollowayWayne W K Lam
Feb 27, 2008·CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne·Mireille LacroixBartha Maria Knoppers
Mar 18, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Laura E ForrestDavid J Amor
Nov 14, 2008·The New England Journal of Medicine·William D Foulkes
Aug 12, 2010·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Eleanor L CheungMary S Beattie
Mar 2, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Joël VosAad Tibben
Jun 4, 2011·Journal of Medical Genetics·Aung Ko WinNoralane M Lindor
Sep 17, 2011·Clinical Genetics·C FischerUNKNOWN German Consortium for Hereditary Breast and Ovarian Cancer
Apr 13, 2012·Hereditary Cancer in Clinical Practice·Ani KardashianMary Stanley Beattie
Jan 1, 2013·Journal of Community Genetics·Lee BlackBartha Maria Knoppers
Mar 29, 2013·Familial Cancer·Fred H MenkoUNKNOWN Dutch Society for Clinical Genetics
Jul 10, 2013·Nature Reviews. Gastroenterology & Hepatology·Kory Jasperson
Oct 12, 2013·Journal of Genetic Counseling·D KegelaersB Blaumeiser
Aug 16, 2014·International Journal of Cancer. Journal International Du Cancer·Daniel V T CatenacciOlufunmilayo I Olopade
Nov 5, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Bella KaufmanSusan M Domchek
Jun 26, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sandi DheensaAnneke Lucassen
Jul 2, 2015·European Journal of Human Genetics : EJHG·Jan HodgsonJane Halliday

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Citations

May 6, 2019·European Journal of Human Genetics : EJHG·Lieke M van den HeuvelImke Christiaans
May 18, 2019·Clinical Genetics·Nicola FlaumDafydd G Evans
Dec 21, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erica M BednarSally W Vernon
Jan 11, 2020·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Kenneth OffitSemanti Mukherjee
Feb 26, 2020·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Allison W Kurian, Steven J Katz
Oct 21, 2020·Circulation. Genomic and Precision Medicine·Lieke M van den HeuvelImke Christiaans
Nov 12, 2020·Journal of Genetic Counseling·Deborah CragunTuya Pal
Nov 29, 2020·Journal of Medical Ethics·Kalle Grill, Anna Rosén
Aug 24, 2019·Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN·Marit L Bovbjerg, Sabrina Pillai
Dec 18, 2020·European Journal of Human Genetics : EJHG·Antony P MartinMunir Pirmohamed
Jan 26, 2021·The Application of Clinical Genetics·Lindsey McAlarnenDenise Uyar
Jun 26, 2021·Health Technology Assessment : HTA·Chris StintonSian Taylor-Phillips
Jul 3, 2021·Journal of Personalized Medicine·Nora B HenriksonKathleen A Leppig
Aug 27, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie C SappLeslie G Biesecker
Sep 17, 2021·BMC Cancer·Ju LiuKai Zhang

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Methods Mentioned

BETA
FCS

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