Family History Assessment to Detect Increased Risk for Colorectal Cancer: Conceptual Considerations and a Preliminary Economic Analysis

Ramsey, Scott D.; Burke, Wylie; Pinsky, Linda; Clarke, Lauren; Newcomb, Polly A.; Khoury, Muin J.

doi:10.1158/1055-9965.epi-05-0418

Cited by 19 publications

(13 citation statements)

References 40 publications

(33 reference statements)

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“…[17][18][19][20][21] We do not use Lynch syndrome-specific family history risk criteria because of the difficulty and high cost in accurately collecting and interpreting family history data for this purpose. 2,3,35 Ours is the first study to model the use of IHC testing and the inclusion of BRAF V600E mutation testing for Lynch syndrome. 2,36 Finally, our analysis differs from a previous US cost-effectiveness analysis that assumed that probands and relatives with Lynch syndrome would undergo prophylactic subtotal colectomy surgery, which is not common practice.…”

mentioning

confidence: 99%

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Mvundura

Grosse

Hampel

et al. 2010

Genetics in Medicine

254

337

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Purpose:To estimate the cost-effectiveness of genetic testing strategies to identify Lynch syndrome among newly diagnosed patients with colorectal cancer and to offer targeted testing to relatives of patients with Lynch syndrome. Methods: We calculated incremental costs per life-year saved for universal testing relative to no testing and age-targeted testing for strategies that use preliminary genetic tests (immunohistochemistry or microsatellite instability) of tumors followed by sequencing of mismatch repair genes. We also calculated incremental cost-effectiveness ratios for pairs of testing strategies. Results: Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of Յ$45,000 per life-year saved compared with no testing and Յ$75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost Յ$25,000 per life-year saved relative to no testing and Յ$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios Ն$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness. Conclusion: Laboratory-based strategies using preliminary tests seem costeffective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer. Genet Med 2010:12(2):93-104.Key Words: cost-effectiveness analysis, genetic testing, Lynch syndrome, HNPCC, cancer, genomics, economic evaluation L ynch syndrome is a genetic predisposition to colorectal cancer (CRC) and certain other malignancies as a result of a germline mismatch repair (MMR) gene mutation. In this article, we present an economic evaluation of genetic testing protocols to identify Lynch syndrome among newly diagnosed cases of CRC in order to identify and test blood relatives for the presence of Lynch syndrome. The benefit of identifying an asymptomatic individual with Lynch syndrome is that it allows for early and intensive surveillance to detect colon polyps, which can prevent malignancies and reduce the risk of premature death.The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (EWG) commissioned evidence reviews 1,2 of testing strategies for Lynch syndrome and in January 2009 published a recommendation to offer laboratory testing to all newly diagnosed patients with CRC, regardless of age or family history. 3 The primary research question was whether the EWG recommendation of universal testing to identify mutations for which...

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mentioning

confidence: 99%

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Mvundura

Grosse

Hampel

et al. 2010

Genetics in Medicine

254

337

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“…[22][23][24][25] Many of the studies that involve modeling or data analysis have examined genes that, when mutant, predispose to disease at considerably less than 100% penetrance. For example, people at higher than age-adjusted risk for colorectal cancer, based on family history or genetic testing of tumor tissue in relatives, benefit clinically from earlier institution of colonoscopic monitoring.…”

Section: Discussionmentioning

confidence: 99%

“…For example, people at higher than age-adjusted risk for colorectal cancer, based on family history or genetic testing of tumor tissue in relatives, benefit clinically from earlier institution of colonoscopic monitoring. 25 The cost-effectiveness of various models of screening for colorectal cancer for more aggressive management compared with the general population has been examined in several studies. [26][27][28][29][30] As improved data on effectiveness of testing, prevalence of mutations, and costs of testing and screening accrued, the costeffectiveness of targeting therapy for colorectal cancer based on genetic screening has been judged reasonable (in terms of earlier diagnosis of tumors and reduced costs) for both individuals and the population.…”

Section: Discussionmentioning

confidence: 99%

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Zayac

Trerotola

Asch

et al. 2012

Genetics in Medicine

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Purpose: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder of vascular development resulting in direct connections between the arterial and venous systems, bypassing capillaries. Symptoms and signs can appear throughout life and marked intrafamilial variability confounds diagnosis based purely on clinical criteria. We set out to determine the impact of genetic testing on the cost of screening for HHT in at-risk relatives. methods:We performed economic modeling of idealized pedigrees following two scenarios: repeated clinical screening until an HHT diagnosis could be either affirmed or excluded, and mutation testing in the proband, followed by genetic testing of at-risk relatives and clinical monitoring of only those relatives who test positive for the familial mutation.Results: Based on actual reimbursement data from our region's largest health insurer, the molecular diagnostic model saved over $22,000 for a family with four relatives at risk for the initial diagnostic work-up. For a cohort of 100 probands, the total savings for the molecular diagnostic model over a reasonable period of follow-up was greater than $9 million. conclusion: In this idealized setting in which all probands and at-risk relatives accepted molecular testing, the economic advantages of genetic screening over repeated clinical screening are substantial. 2012:14(6):604-610 Genet Med

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“…En este sentido, es de resaltar que existen referencias en la literatura sobre la dificultad que tendrían los sistemas sanitarios de asumir la carga de trabajo que supondría la realización de colonoscopias a todas aquellas personas con riesgo de desarrollar cáncer colorrectal. Así, la implementación del cribado genético del APC es una de las medidas que podría paliar esta dificultad (14,24). Por otro lado, una revisión sistemática sobre las pruebas genéticas puso de manifiesto que los factores más influyentes sobre el ratio coste-efectividad son la prevalencia de la mutación, el coste del test genético, mortalidad y efectividad del tratamiento (25).…”

Section: Discussionunclassified

“…El factor de ponderación de la calidad de un año de vida puede ir desde el valor 0 (muerte o equivalente), hasta el 1 (salud perfecta). Las utilidades consideradas en el modelo se obtuvieron a partir de varios estudios previos (13,14). El seguimiento anual mediante colonoscopia está indicado tanto en aquellos sujetos a los que no se les realiza el test genético, como en los que tienen un test positivo.…”

Section: Métodosunclassified

Evaluación económica de la prueba genética de la poliposis adenomatosa familiar

Lima

Castillo

Mochón

et al. 2008

Rev. esp. enferm. dig.

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INTRODUCCIÓNEn los últimos años han sido descritas mutaciones genéticas hereditarias relacionadas con algunas enfermedades y que podrían permitir identificar a sujetos con alto riesgo de padecer alguna de ellas a lo largo de su vida. En este sentido, el análisis genético ofrece la oportunidad de un diagnóstico precoz que permita establecer medidas preventivas y terapéuticas precoces para mejorar la supervivencia de estos pacientes (1). ReV eSP enFeRM DiG (Madrid) Vol. 100. n. °8, pp. 470-475, 2008 Recibido: 21-04-08. Aceptado: 17-06-08.Este trabajo se ha realizado bajo la dirección técnica de la Agencia de Evaluación de Tecnologías Sanitarias de Andalucía (AETSA) en el marco de colaboración previsto en el Plan de Calidad para el Sistema Nacional de Salud, al amparo del convenio de colaboración suscrito por el Instituto de Salud Carlos III, organismo autónomo del Ministerio de Sanidad y Consumo y la Fundación Progreso y Salud de Andalucía. RESUMENObjetivo: analizar el coste-utilidad de la prueba genética a familiares de primer grado de pacientes con cáncer de colon para determinar mutaciones del gen APC (Adenomatous Polyposis Coli).Metodología: los análisis se realizaron desde el punto de vista del sistema sanitario. Se utilizó un modelo de Markov. Realización de la prueba genética para el gen APC, causante de la poliposis adenomatosa familiar (PAF), que produce cáncer de colon frente a la no realización de la misma. La medida de efectividad utilizada fueron los años de vida ajustados por calidad (AVAC) y la unidad de coste los euros de 2005. Los costes de las intervenciones fueron extraídos de los precios públicos de los servicios sanitarios prestados por centros dependientes del Sistema Sanitario Público Andaluz y los valores de la efectividad y de utilidad de la literatura.Resultados: la realización de la prueba genética se muestra como una estrategia dominante a la no realización de la misma, ya que esta última tiene un coste incremental de 7.676,34 €, además de una menor efectividad. Los análisis de sensibilidad mostraron que la realización de la prueba genética se mantiene como la estrategia dominante dentro de un amplio rango de coste de la prueba y de probabilidad de desarrollar adenocarcinomas.Conclusiones: los análisis mostraron que, para este grupo de pacientes, la realización de la prueba genética para la detección de la mutación del gen APC es en promedio menos costosa y además produce una mejora en AVAC comparado con la no realización de la misma. ABSTRACTObjective: to analyze the cost-effectiveness of genetic testing for first-degree relatives of patients with colon cancer to identify mutations in the APC gene (Adenomatous Polyposis Coli).Methodology: analyses were performed from the perspective of the health system. We used a Markov model. We compared genetic testing for the APC gene, the cause of familial adenomatous polyposis (FAP), which results in colon cancer, versus no genetic testing for said gene. The effectiveness measure used was quality-adjusted life-years (QALYs), and costs were m...

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Family History Assessment to Detect Increased Risk for Colorectal Cancer: Conceptual Considerations and a Preliminary Economic Analysis

Cited by 19 publications

References 40 publications

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

Evaluación económica de la prueba genética de la poliposis adenomatosa familiar

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