Article
The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer.
Office of Public Health Genomics, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (impact factor:
3.92).
02/2010;
12(2):93-104.
DOI:10.1097/GIM.0b013e3181cd666c
pp.93-104
Source: PubMed
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Citations (0)
- Cited In (2)
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Article: The revised Bethesda guidelines: extent of utilization in a university hospital medical center with a cancer genetics program.
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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 -
Article: Hereditary nonpolyposis colorectal cancer in Pakistan: Results of a pilot study
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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.
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Keywords
age-targeted testing
colorectal cancer
colorectal tumors
genetic testing strategies
incremental cost-effectiveness ratio comparable
incremental cost-effectiveness ratios
incremental costs
Laboratory-based strategies
lowest cost strategies
lowest cost testing strategies
Lynch syndrome
microsatellite instability
offer testing
patients younger
preliminary test
preliminary tests
preventive services
testing strategies
universal testing
use preliminary genetic tests
