The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer.
ABSTRACT 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.
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.
Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of <or=$45,000 per life-year saved compared with no testing and <or=$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 <or=$25,000 per life-year saved relative to no testing and <or=$40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios >or=$700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness.
Laboratory-based strategies using preliminary tests seem cost-effective 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.
Article: The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program.[show abstract] [hide abstract]
ABSTRACT: In 1996, the National Cancer Institute hosted an international workshop to develop criteria to identify patients with colorectal cancer who should be offered microsatellite instability (MSI) testing due to an increased risk for Hereditary Nonpolyposis Colorectal Cancer (HNPCC). These criteria were further modified in 2004 and became known as the revised Bethesda Guidelines. Our study aimed to retrospectively evaluate the percentage of patients diagnosed with HNPCC tumors in 2004 who met revised Bethesda criteria for MSI testing, who were referred for genetic counseling within our institution. All HNPCC tumors diagnosed in 2004 were identified by accessing CoPath, an internal database. Both the Tumor Registry and patients' electronic medical records were accessed to collect all relevant family history information. The list of patients who met at least one of the revised Bethesda criteria, who were candidates for MSI testing, was then cross-referenced with the database of patients referred for genetic counseling within our institution. A total of 380 HNPCC-associated tumors were diagnosed at our institution during 2004 of which 41 (10.7%) met at least one of the revised Bethesda criteria. Eight (19.5%) of these patients were referred for cancer genetic counseling of which 2 (25%) were seen by a genetics professional. Ultimately, only 4.9% of patients eligible for MSI testing in 2004 were seen for genetic counseling. This retrospective study identified a number of barriers, both internal and external, which hindered the identification of individuals with HNPCC, thus limiting the ability to appropriately manage these high risk families.Hereditary Cancer in Clinical Practice 01/2010; 8:9. · 1.68 Impact Factor
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ABSTRACT: Objective: Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary bowel cancer. Multiple generations are affected with colorectal cancer at relatively young age, between 25 and 45 years. We conducted this study to investigate the frequency of HNPCC in Pakistani population, due to the high incidence of colorectal cancer in younger Pakistani adults and prevalence of consanguinity in this region. Methodology: Ninety histopathologically confirmed colorectal cancer patients between 12-50 years and their families were interviewed using a detailed questionnaire. The questions about family history of colorectal cancer, history of other cancers, age at diagnosis and consanguinity were asked. The pedigrees were drawn for all families based on given information. To confirm cancers reported in relatives, hospital records were also reviewed. Amsterdam criteria were used to label a family as HNPCC. Results: Seventeen patients (18.9%) had one or more first or second degree relatives under age 50 years with colorectal cancers suggestive of HNPCC. Another 15 patients (16.7%) had first or second degree relatives with a family history of other extra-colonic cancers including ovarian, breast, endometrium, lung, parotid, brain and bladder cancer. Of these 30 patients (33.3%) reported that their parents were first degree cousins. Conclusion: High frequency of HNPCC was seen in Pakistani population; higher proportion of colorectal cancer in young Pakistanis, strong prevalence of consanguineous marriages could be important factors for HNPCC occurrence in Pakistan. However future studies with large sample size along with genetic testing and screening programmes are warranted.Pak J Med Sci Pak J Med Sci April -June Pak J Med Sci Radiation Oncology. 01/2011; 2727(3):339-343339.