scholarly journals Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

2017 ◽  
Vol Volume10 ◽  
pp. 49-60 ◽  
Author(s):  
Anya Prince ◽  
Jean Cadigan ◽  
Gail Henderson ◽  
James Evans ◽  
Michael Adams ◽  
...  
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
General Population ◽  
Lynch Syndrome

Uptake of genetic testing by relatives in Lynch syndrome: A systematic review.

2013 ◽  
Vol 31 (4_suppl) ◽  
pp. 374-374
Author(s):  
Ravi Sharaf ◽  
Parvathi Myer ◽  
Christopher Stave ◽  
Lisa Diamond ◽  
Uri Ladabaum
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Meta Analysis ◽  
Population Level ◽  
Female Gender ◽  
Economic Feasibility ◽  
Future Research ◽  
Inclusion Criteria ◽  
Full Text Review

374 Background: Screening of persons with newly diagnosed colorectal cancer (CRC) for Lynch Syndrome (LS) can yield substantial population-level benefits at acceptable costs, presuming sufficient uptake of genetic testing by first-degree relatives (FDRs) of LS probands. We reviewed systematically the published literature addressing the frequency and predictors of uptake of genetic testing by FDRs of LS probands. Methods: A literature search was conducted in four electronic databases (CINAHL, PsycInfo, PUBMED, and SCOPUS) for articles published through May 2011 that reported the uptake of genetic testing by relatives of LS probands. Two investigators independently screened articles to determine whether they met inclusion criteria, and abstracted data inthree broad categories: study population, methodology, and uptake of genetic testing. A narrative, qualitative systematic review was performed. The data were not amenable to meta-analysis. Results: 1,258 potentially relevant articles were identified with 533 studies undergoing full text review. Eight articles met inclusion criteria. 52% or less of FDRs of LS probands underwent genetic testing. For each LS proband, 4.6 or fewer relatives underwent genetic testing. Demographic factors (age <50 years, female gender, parenthood, education level, employment, participation in past medical studies), psychological factors (lack of depressive symptoms), and family history (greater number of relatives with cancer) were associated with uptake of genetic testing. Conclusions: Genetic testing may be underutilized by FDRs at risk for LS. The economic feasibility of screening persons with CRC for LS depends on optimizing family-wide uptake of genetic testing. Future research and clinical efforts should focus on ways to overcome barriers to genetic testing.

scholarly journals Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review

2021 ◽  
Vol 11 (9) ◽  
pp. 850
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Lucson Joseph ◽  
Christine Y. Lu
Keyword(s):  
Systematic Review ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Real World ◽  
Patient Reported Outcomes ◽  
Clinical Intervention ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Patient Reported

Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward.

Uptake of Genetic Testing by Relatives of Lynch Syndrome Probands: A Systematic Review

2013 ◽  
Vol 11 (9) ◽  
pp. 1093-1100 ◽  
Author(s):  
Ravi N. Sharaf ◽  
Parvathi Myer ◽  
Christopher D. Stave ◽  
Lisa C. Diamond ◽  
Uri Ladabaum
Keyword(s):  
Systematic Review ◽  
Genetic Testing ◽  
Lynch Syndrome

scholarly journals Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 925
Author(s):  
Vasiliki Baroutsou ◽  
Meghan L. Underhill-Blazey ◽  
Christian Appenzeller-Herzog ◽  
Maria C. Katapodi
Keyword(s):  
Systematic Review ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Family Communication ◽  
Meta Analysis ◽  
Decision Aids ◽  
Cancer Predisposition ◽  
Cascade Screening ◽  
Screening And Prevention

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC (n = 5); both HBOC and LS (n = 4); LS (n = 3); or ovarian cancer (n = 2). All protocols (n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids (n = 4), building communication skills (n = 4), or motivational interviewing (n = 1). The overall effect size for family communication was small (g = 0.085) and not significant (p = 0.344), while for cascade testing, it was small (g = 0.169) but significant (p = 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.

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