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Sunday, 18 November 2007

Benefits, limitations and risks of genetic testing

Benefits
1. test results may lead to institution of timely and effective treatment or management.
2. test results may predict disease rognosis
3. test results may influence personal and reproductive decision-making
4. testing can predict eventual disease in the absence of disease symptoms
5. psychological benefits
. ability to btain societal benefits or support after confirmation of a diagnosis

Limitation
1. There may be no clinical test available
2. There may be no interventions to treat or prevent the condition
3. testing may be available at only few select labs or genetic centers
4. test interpretation may depend on other family members being tested.
5. some conditions are caused by many different mutations in a single gene (allelic heterogeneity), not all of which are detected by a particular test
6. There is the possibility that a given condition is caused by mutations in more than one gene (locus heterogeneity).
7. A negative test result does not necessarily eliminate the disorder in the differential diagnosis
8. A postive test result does not guarantee that the patient will develop the condition.
9.testing may yield indeterminate rsults
10. Tests or screens may have low sensitivity or specificity.

Risks
1. Test result may identify other at-risk family members without their consent.
2. Test results ay affect family integrity, dynamics and relationships
3. Testing can predict eventual disease in the absence of disease symptoms.
4. Testing may yield indeterminate results.
5. Genetic information is potentially stigmatization
6. Genetic information can potentially lead to discrimination.
7. Test results may cause psychological effects, including anger guilt, decreased self-worth or depression.

1 comment:

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