Advanced Genetic Test Influences Medical Treatment, Reports Genetics In Medicine
Main Category: Genetics
Article Date: 12 Oct 2011 - 1:00 PDT
Chromosomal microarray (CMA) a powerful test for diagnosing the genetic abnormalities causing some types of developmental delay and birth defects can be used in an evidence-based manner to provide important information for patient treatment, according to a pair of studies in the September issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.
The new papers address criticisms that CMA testing, though highly accurate, doesn't alter the clinical management of affected children. "Together, the two new studies show that CMA tests are clinically important and helpful, and provide important information about how to interpret these advanced genetic tests in an evidence-based manner," comments Jim Evans, M.D., Ph.D., Editor-in-Chief of Genetics in Medicine.
CMA Tests Provide Useful Information for Patient Care
Chromosomal microarray testing works by detecting small DNA variations either deletions or repetitions called copy-number variants (CNVs). In recent years, CMA tests have revolutionized the ability of medical geneticists to detect clinically significant CNVs in children with intellectual disability or developmental delay (ID/DD), autism spectrum disorders, or multiple congenital anomalies.
However, some experts have questioned whether the precise genetic information provided by CMA actually leads to any changes in treatment. In some cases, health insurers have restricted the use of or reimbursement for CMA in children with ID/DD or other conditions. "The rationale behind these decisions is that CMA should not be reimbursed because it is only used to clarify a diagnosis but does not change clinical management of the patient," write Dr. Mira Irons and colleagues of Children's Hospital Boston.
Advanced Genetic Test Influences Medical Treatment, Reports Genetics In MedicineArticle Date: 12 Oct 2011 - 1:00 PDT
Chromosomal microarray (CMA) a powerful test for diagnosing the genetic abnormalities causing some types of developmental delay and birth defects can be used in an evidence-based manner to provide important information for patient treatment, according to a pair of studies in the September issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.
The new papers address criticisms that CMA testing, though highly accurate, doesn't alter the clinical management of affected children. "Together, the two new studies show that CMA tests are clinically important and helpful, and provide important information about how to interpret these advanced genetic tests in an evidence-based manner," comments Jim Evans, M.D., Ph.D., Editor-in-Chief of Genetics in Medicine.
CMA Tests Provide Useful Information for Patient Care
Chromosomal microarray testing works by detecting small DNA variations either deletions or repetitions called copy-number variants (CNVs). In recent years, CMA tests have revolutionized the ability of medical geneticists to detect clinically significant CNVs in children with intellectual disability or developmental delay (ID/DD), autism spectrum disorders, or multiple congenital anomalies.
However, some experts have questioned whether the precise genetic information provided by CMA actually leads to any changes in treatment. In some cases, health insurers have restricted the use of or reimbursement for CMA in children with ID/DD or other conditions. "The rationale behind these decisions is that CMA should not be reimbursed because it is only used to clarify a diagnosis but does not change clinical management of the patient," write Dr. Mira Irons and colleagues of Children's Hospital Boston.
Advanced Genetic Test Influences Medical Treatment, Reports Genetics In Medicine
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