Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

Berg, Alfred O.; Armstrong, Katrina; Botkin, Jeffrey R.; Calonge, Ned; Haddow, James E.; Hayes, Maxine; Kaye, Celia I.; Phillips, Kathryn A.; Piper, Margaret; Richards, C. Sue; Scott, Joan A.; Strickland, Ora L.; Teutsch, Steven M.

doi:10.1097/gim.0b013e31818fa2ff

Cited by 581 publications

(252 citation statements)

References 22 publications

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“…Specifically, we found that Health Heritage consistently outperformed Usual Care for all measures of family health history completeness and accuracy when both conditions were compared to the genetic assessment team. This is an important finding because it is important to compare to a gold standard (genetic assessment team) [6,30,][31]. In addition, our comparison showed that Health Heritage consistently performed at, or close to, the completeness of the family health history recorded by genetic counselors.…”

Section: Discussionmentioning

confidence: 70%

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Health Heritage<sup>©</sup>, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity

Cohn¹,

Ropka

Pelletier³

et al. 2010

Public Health Genomics

106

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A detailed family health history is currently the most potentially useful tool for diagnosis and risk assessment in clinical genetics. We developed and evaluated the usability and analytic validity of a patient-driven web-based family health history collection and analysis tool. Health Heritage^© guides users through the collection of their family health history by relative, generates a pedigree, completes risk assessment, stratification, and recommendations for 89 conditions. We compared the performance of Health Heritage to that of Usual Care using a nonrandomized cohort trial of 109 volunteers. We contrasted the completeness and sensitivity of family health history collection and risk assessments derived from Health Heritage and Usual Care to those obtained by genetic counselors and genetic assessment teams. Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care. Health Heritage also had greater sensitivity than Usual Care when comparing the identification of risks. These results suggest a strong role for automated family health history collection and risk assessment and underscore the potential of these data to serve as the foundation for comprehensive, cost-effective personalized genomic medicine.

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Section: Discussionmentioning

confidence: 70%

“…A family health history tool’s analytic validity needs to address how accurately the tool identifies disease in family members compared to a well-defined gold standard [30,31]. …”

Section: Introductionmentioning

confidence: 99%

Health Heritage<sup>©</sup>, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity

Cohn¹,

Ropka

Pelletier³

et al. 2010

Public Health Genomics

106

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“…Even for genomic applications currently in practice, we lack highly needed information on how validated genome technologies (such as HER2 testing) actually work in practice [32] and whether or not they lead to ‘real world’ net benefits in clinical outcomes. In fact, over the past 7 years, independent panels such as the U.S. Preventive Services Task Force and the EGAPP Working Group only made a few evidence-based recommendations for use of genomic applications in practice [33,34]. Two recent evidence reviews of promising genomics applications yielded inconclusive evidence of clinical utility for their use in practice [35,36].…”

Section: Discussionmentioning

confidence: 99%

Translational Research in Cancer Genetics: The Road Less Traveled

Schully¹,

Benedicto²,

Gillanders³

et al. 2009

Public Health Genomics

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Gene discoveries in cancer have the potential for clinical and public health applications. To take advantage of such discoveries, a translational research agenda is needed to take discoveries from the bench to population health impact. To assess the current status of translational research in cancer genetics, we analyzed the extramural grant portfolio of the National Cancer Institute (NCI) from Fiscal Year 2007, as well as the cancer genetic research articles published in 2007. We classified both funded grants and publications as follows: T0 as discovery research; T1 as research to develop a candidate health application (e.g., test or therapy); T2 as research that evaluates a candidate application and develops evidence-based recommendations; T3 as research that assesses how to integrate an evidence-based recommendation into cancer care and prevention; and T4 as research that assesses health outcomes and population impact. We found that 1.8% of the grant portfolio and 0.6% of the published literature was T2 research or beyond. In addition to discovery research in cancer genetics, a translational research infrastructure is urgently needed to methodically evaluate and translate gene discoveries for cancer care and prevention.

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“…An alternate process to the family history first approach for LS identification is the tumour first approach with universal immunohistochemistry testing for the four MMR proteins, and/or microsatellite stability testing, in CRCs at time of initial surgery 27.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of a population‐based approach to familial colorectal cancer

et al. 2017

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As Newfoundland has the highest rate of familial colorectal cancer (CRC) in the world, we started a population‐based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 51% provided a family history. Seventy‐two percent of families were at low or intermediate–low risk of CRC and colonoscopic screening recommendations were provided by letter. Twenty‐eight percent were at high and intermediate–high risk and were referred to the genetic counsellor, but only 30% (N = 48) were interviewed by study end. Colonoscopy was recommended more frequently than every 5 years in 35% of families. Lower family risk was associated with older age of proband but the frequency of screening colonoscopy recommendations varied across all age groups, driven by variability in family history. Twenty‐four percent had a high MMR predict score for a Lynch syndrome mutation, and 23% fulfilled the Provincial Program criteria for LS screening. A population‐based approach in the provision of colonoscopic screening recommendations to families at risk of CRC was limited by the relatively low response rate. A family history first approach to the identification of LS families was inefficient.

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Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives

Cited by 581 publications

References 22 publications

Health Heritage<sup>©</sup>, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity

Health Heritage<sup>©</sup>, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity

Translational Research in Cancer Genetics: The Road Less Traveled

Evaluation of a population‐based approach to familial colorectal cancer

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