RESUMO
Individuals with Lynch syndrome, sometimes referred to as hereditary non-polyposis colorectal cancer (HNPCC), have an increased risk of developing colorectal cancer (CRC) as well as other cancers. The increased risk is due to inherited mutations in mismatch repair (MMR) genes, which reduce the ability of cells to repair DNA damage. Screening for Lynch syndrome in individuals newly diagnosed with colorectal cancer has been proposed as part of a strategy that combines tests and interventions to reduce the risk of colorectal cancer in the relatives of the colorectal cancer patients with Lynch Syndrome.
RESUMO
PURPOSE: Array comparative genomic hybridization is an emerging test used clinically to identify the etiology of children with developmental delay, yet little data are available regarding how physicians use these results. This pilot study evaluated how positive test results were used to influence patient management. METHODS: We surveyed 14 physicians of 48 patients who had copy number changes detected by microarray technology. RESULTS: Of 48 patients, 34 (70.8%) had 65 management changes after receiving the test result (with individual patients having 1-3 changes). Most commonly, physicians provided patients' families with a recurrence risk for affected subsequent pregnancies (35% of patients). Patients avoided other forms of testing (35%) and had improved access to services (25%). In 27% of patients, physicians altered medical management by referring patients to a specialist or recommending medical screening. Patients with known syndromes had multiple changes, but patients with novel copy number changes also had recommendations made based on the array result. CONCLUSIONS: Overall, physicians reported making changes in management among most patients with positive test results, in ways similar to abnormalities detected by conventional cytogenetics. Our study demonstrates that this testing, in our clinical setting, is affecting management of children with developmental delay.