| Chapter title |
Evaluation of the validity and utility of genetic testing for rare diseases.
|
|---|---|
| Chapter number | 8 |
| Book title |
Rare Diseases Epidemiology
|
| Published in |
Advances in experimental medicine and biology, August 2010
|
| DOI | 10.1007/978-90-481-9485-8_8 |
| Pubmed ID | |
| Book ISBNs |
978-9-04-819484-1, 978-9-04-819485-8
|
| Authors |
Grosse SD, Kalman L, Khoury MJ, Grosse, Scott D., Kalman, Lisa, Khoury, Muin J., Scott D. Grosse, Lisa Kalman PhD, Muin J. Khoury MD, PhD, Lisa Kalman, Muin J. Khoury |
| Editors |
Manuel Posada de la Paz, Stephen C. Groft |
| Abstract |
The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a test's ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a test's ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a test is a measure of its usefulness in the clinic and resulting changes in clinical endpoints. In addition, the utility to individuals and families of genomic information, or personal utility, should be considered. This chapter identifies methodological and data issues involved in assessing each type of validity or utility. The validity and utility of a test must be considered in a specific context, which include diagnostic testing, newborn screening, prenatal carrier screening, and family or cascade screening. Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 4% |
| Netherlands | 1 | 2% |
| Unknown | 52 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 10 | 18% |
| Researcher | 9 | 16% |
| Student > Ph. D. Student | 9 | 16% |
| Professor | 6 | 11% |
| Student > Bachelor | 3 | 5% |
| Other | 8 | 15% |
| Unknown | 10 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 19 | 35% |
| Biochemistry, Genetics and Molecular Biology | 8 | 15% |
| Social Sciences | 5 | 9% |
| Nursing and Health Professions | 3 | 5% |
| Agricultural and Biological Sciences | 3 | 5% |
| Other | 5 | 9% |
| Unknown | 12 | 22% |