Sharing Genetic Test Results in Lynch Syndrome: Communication With Close and Distant Relatives

Stoffel, Elena M.; Ford, Beth; Mercado, Rowena; Punglia, Darashana; Kohlmann, Wendy; Conrad, Peggy; Blanco, Amie; Shannon, Kristen M.; Powell, Mark; Gruber, Stephen B.; Terdiman, Jonathan P.; Chung, Daniel C.; Syngal, Sapna

doi:10.1016/j.cgh.2007.12.014

Cited by 111 publications

(102 citation statements)

References 15 publications

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“…These findings are concordant with one study regarding sharing of PGx [19]. Further, based on the genetics literature, sharing test results with family members is common practice [28,29] as many patients feel it is their duty to inform family members [30,31]. Though only one patient shared results with another provider, this may be due to the short follow-up period in which patients would have been able to see other providers.…”

Section: Discussionsupporting

confidence: 66%

Patient Experiences with Pharmacogenetic Testing in a Primary Care Setting

et al. 2016

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Aim:To investigate patient experiences with pharmacogenetic (PGx) testing. Methods: Patients were offered PGx testing through a study on pharmacist-assisted delivery of PGx testing and invited to complete pre-and post-testing surveys about their experience. Results: Of 63 patients tested, 17 completed the baseline survey (27%). Interest in testing was mostly impacted by desire to inform selection of best treatment (n = 13). Seven of 12 patients that completed the follow-up survey indicated that their provider discussed the test result with them. Five patients understood their test result very or somewhat well. All would be likely to have PGx testing again. Conclusion: Patients perceived PGx testing to be useful, though more effort may be needed to improve patient-provider communication of test results.

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Section: Discussionsupporting

confidence: 66%

Patient Experiences with Pharmacogenetic Testing in a Primary Care Setting

et al. 2016

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“…62 Sharing genetic test results with family members and caregivers can be of paramount importance in increasing screening rates of relatives and in improving the effectiveness and cost-effectiveness of LS screening. 62,63 Our systematic review can help inform health decision makers of the opportunities and challenges involved in integrating LS screening in public health policies. 10,64 Compared with previous reviews, 12,13 ours is a more comprehensive classification of all cost-effective LS screening programs and we assessed their feasibility within the related health-care contexts.…”

Section: Discussionmentioning

confidence: 99%

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco

D’Andrea

Panić

et al. 2018

Genetics in Medicine

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Purpose: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world."Methods: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years.Results: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with agetargeted programs with lower age thresholds.Conclusion: Universal or o70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world." Genet Med advance online publication 4 January 2018Key Words: colorectal cancer; cost-effectiveness; Lynch syndrome; screening program; systematic review INTRODUCTIONLynch syndrome (LS) is the most common cause of inherited colorectal cancer (CRC), accounting for about 3% of newly diagnosed cases, and results from a mutation in one of the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2). As LS is associated with an increased risk of colorectal, endometrial, and other cancers, it is important to identify both the probands and their family members. 1 In 2009, the Evaluation of Genomic Applications in Practice and Prevention Working Group recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. 2 The working group declared that there is a moderate certainty that this would provide moderate population benefit, but it did not recommend a specific genetic testing strategy among the several examined, nor did it deal with implementation issues. 2 Thereafter the US Department of Health and Human Services adopted the following as a Healthy People 2020 developmental objective: 3 "Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes)."Although genomic information has the potential to improve the delivery of patient-centered care through tailored preventive, diagnostic, and treatment strategies, there is a considerable gap between discoveries in genomics research and the translation of these findings into genetic services that benefit patients. 4,5 A previous study highl...

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“…These methods could enable the flow of shared disease risk information to be tracked as it moves through the network and to understand whether and how common perceptions of a health threat are established (43,78). Important questions that could be explored include the following: When and how is risk in genetic information shared within kinship networks?…”

Section: Genetic Risk Communication and Intervention Are Individual Bmentioning

confidence: 99%

The Behavioral Response to Personalized Genetic Information: Will Genetic Risk Profiles Motivate Individuals and Families to Choose More Healthful Behaviors?

McBride

Koehly

Sanderson

et al. 2010

Annu. Rev. Public Health

219

220

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This report describes the use of information emerging from genetic discovery to motivate risk-reducing health behaviors. Most research to date has evaluated the effects of information related to rare genetic variants on screening behaviors, in which genetic risk feedback has been associated consistently with improved screening adherence. The limited research with common genetic variants suggests that genetic information, when based on single-gene variants with low-risk probabilities, has little impact on behavior. The effect on behavioral outcomes of more realistic testing scenarios in which genetic risk is based on numerous genetic variants is largely unexplored. Little attention has been directed to matching genetic information to the literacy levels of target audiences. Another promising area for research is consideration of using genetic information to identify risk shared within kinship networks and to expand the influence of behavior change beyond the individual.

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Sharing Genetic Test Results in Lynch Syndrome: Communication With Close and Distant Relatives

Abstract: Background and Aims-Clinical genetic testing can help direct cancer screening for members of Lynch Syndrome families; however there is limited information about family communication of genetic test results.

Cited by 111 publications

References 15 publications

Patient Experiences with Pharmacogenetic Testing in a Primary Care Setting

Patient Experiences with Pharmacogenetic Testing in a Primary Care Setting

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

The Behavioral Response to Personalized Genetic Information: Will Genetic Risk Profiles Motivate Individuals and Families to Choose More Healthful Behaviors?

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