Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Saukko, Paula; Richards, Suzanne H; Shepherd, Maggie; Campbell, John

doi:10.1016/j.socscimed.2006.04.012

Cited by 29 publications

(37 citation statements)

References 33 publications

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“…Other studies of screening and genetic testing suggest that the ability of test results to inform decision making about prevention or therapeutic interventions is important (Andrykowski et al 1996;Mesters et al 2005;Ramsey et al 2003;Rose et al 2005;Wakefield et al 2007;Walsh et al 2012), and genetic exceptionalism may be reduced when active preventive strategies are available (Ross 2001;Saukko et al 2006). Our findings are consistent with this, although require further examination given the stated limitations.…”

Section: Discussionsupporting

confidence: 83%

Public attitudes towards genomic risk profiling as a component of routine population screening

Nicholls

Wilson

Craigie

et al. 2013

Genome

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Abstract:Including low penetrance genomic variants in population-based screening might enable personalization of screening intensity and follow up. The application of genomics in this way requires formal evaluation. Even if clinically beneficial, uptake would still depend on the attitudes of target populations. We developed a deliberative workshop on two hypothetical applications (in colorectal cancer and newborn screening) in which we applied stepped, neutrally-framed, information sets. Data were collected using nonparticipant observation, free-text comments by individual participants, and a structured survey. Qualitative data were transcribed and analyzed using thematic content analysis. Eight workshops were conducted with 170 individuals (120 colorectal cancer screening and 50 newborn screening for type 1 diabetes). The use of information sets promoted informed deliberation. In both contexts, attitudes appeared to be heavily informed by assessments of the likely validity of the test results and its personal and health care utility. Perceived benefits included the potential for early intervention, prevention, and closer monitoring while concerns related to costs, education needs regarding the probabilistic nature of risk, the potential for worry, and control of access to personal genomic information. Differences between the colorectal cancer and newborn screening groups appeared to reflect different assessments of potential personal utility, particularly regarding prevention.Key words: personalized medicine, screening, public health, evaluation, utility.Résumé : L'inclusion de variants génomiques à faible pénétrance dans des dépistages à l'échelle de populations pourrait permettre une personnalisation de l'intensité du dépistage et de son suivi. Un tel recours à la génomique doit cependant faire l'objet d'une évaluation formelle. Même si bénéfique au plan clinique, l'adoption d'une telle approche dépendrait des attitudes au sein des populations ciblées. Les auteurs ont mis au point un atelier de discussion pour deux applications hypothétiques (dépistage pour le cancer colorectal et chez les nouveau-nés) où ils ont fait appel à des ensembles d'information gradués et neutres. Les données ont été obtenues auprès d'observateurs non-participants, des commentaires écrits produits par les participants individuels et au moyen d'un sondage structuré. Des données qualitatives ont été transcrites et analysées par analyse du contenu thématique. Huit ateliers ont été tenus impliquant un total de 170 individus (120 pour le dépistage du cancer colorectal et 50 pour le dépistage du diabète de type 1 chez les nouveau-nés). L'emploi d'ensembles d'information a favorisé les échanges informés. Dans les deux cas, les attitudes ont semblé fortement influencées par la vraisemblable validité des résultats des tests ainsi que leur utilité en matière de soins. Les bénéfices perçus incluaient la possibilité d'une intervention précoce, la prévention et un suivi plus serré tandis que les inquiétudes concernaient les coûts, la nécessité d'...

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Section: Discussionsupporting

confidence: 83%

Public attitudes towards genomic risk profiling as a component of routine population screening

Nicholls

Wilson

Craigie

et al. 2013

Genome

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“…53 55,56 assessed the level of understanding of the testing process and the implications of the results among probands and relatives referred for FVL. Testing had minimal impact on knowledge or behavior and was associated with no more than modest distress.…”

Section: Effect Of Testing and Results On Other Outcomesmentioning

confidence: 99%

Predictive Value of Factor V Leiden and Prothrombin G20210A in Adults With Venous Thromboembolism and in Family Members of Those With a Mutation

Segal

Brotman

Necochea

et al. 2009

JAMA

224

156

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LINICIANS TEST FOR PROTHROMbotic genetic mutations including factor V Leiden (FVL) (612309.001) and prothrombin G20210A (176930.0009) when treating patients who have had or are at risk of venous thromboembolism (VTE). Factor V Leiden refers to a single base change in the factor V gene (G1691A) that eliminates 1 of its 3 activated protein C cleavage sites. Consequently, factor V is inactivated at a lower rate, leading to more thrombin generation. 1 A single FVL allele is present in about 5%, 2.2%, and 1.2% of white, Hispanic and African American populations in the United States. 2 The prothrombin (factor II) mutation is the second most common inherited risk factor for VTE. This allele is present in 1.1% of non-Hispanic whites and Mexican Americans and in 0.3% of African Americans. 3 The G20210A mutation is associated with an increase in prothrombin levels by approximately 30% in heterozygotes and by 70% in ho-CME available online at www.jamaarchivescme.com and questions on p 2509. Context Testing for genetic risks for venous thromboembolism (VTE) is common, but the safety and utility of such testing need review.Objectives To define rates of recurrent VTE among adults with VTE with a factor V Leiden (FVL) or prothrombin G20210A mutation compared with those without such mutations; to define rates of VTE among family members of adults with a FVL or prothrombin G20210A mutation according to presence or absence of a mutation; and to assess whether testing adults with VTE for FVL or prothrombin G20210A improves outcomes. Data SourcesWe searched MEDLINE, EMBASE, the Cochrane Library, the Cumulative Index to Nursing and Allied Health Literature, and PsycInfo through December 2008.Study Selection Studies were included if they assessed rates of VTE in individuals with a history of VTE who were tested for FVL or prothrombin G20210A or in family members of individuals with these mutations. Studies assessing the harms and benefits associated with testing were also included. Data ExtractionTwo investigators abstracted data and assessed study quality. We pooled the odds of VTE associated with the mutations using random-effects models. We assessed the strength of the evidence using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria. ResultsWe reviewed 7777 titles and included 46 articles. Heterozygosity (odds ratio [OR], 1.56; 95% confidence interval [CI], 1.14-2.12) and homozygosity (OR, 2.65; 95% CI, 1.2-6.0) for FVL in probands are predictive of recurrent VTE compared with individuals without FVL. Heterozygosity for FVL predicts VTE in family members (OR, 3.5; 95% CI, 2.5-5.0), as does homozygosity for FVL (OR, 18; 95% CI, 7.8-40) compared with family members of adults without FVL. Heterozygosity for prothrombin G20210A is not predictive of recurrent VTE in probands compared with individuals without prothrombin G20210A (OR, 1.45; 95% CI, 0.96-2.2). Evidence is insufficient regarding the predictive value of prothrombin G20210A homozygosity for recurrent VTE and the risk of VTE in family memb...

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“…Personal vulnerability to CHD was minimized not just through social comparison between people, but through internal comparisons along a continuum of risk and disease (Saukko, Richards, Shepherd, & Campbell, 2006;Senior, Smith, Michie, & Marteau, 2002). Many participants weighed the future intangible risk of heart disease against their current bodily experience of disease, and found it to represent 'the least of my worries'.…”

Section: Discussionmentioning

confidence: 99%

Making sense of being at ‘high risk’ of coronary heart disease within primary prevention

Farrimond

Saukko

Qureshi

et al. 2010

Psychology & Health

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Are genetic tests exceptional? Lessons from a qualitative study on thrombophilia

Cited by 29 publications

References 33 publications

Public attitudes towards genomic risk profiling as a component of routine population screening

Public attitudes towards genomic risk profiling as a component of routine population screening

Predictive Value of Factor V Leiden and Prothrombin G20210A in Adults With Venous Thromboembolism and in Family Members of Those With a Mutation

Making sense of being at ‘high risk’ of coronary heart disease within primary prevention

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