back to 2010, vol. 16, b. 3

Journal of IMAB - Annual Proceeding (Scientific Papers)
Publisher: Peytchinski, Gospodin Iliev
ISSN: 1312 773X (Online)
Issue: 2010, vol. 16, book 3
Subject Collection: Medicine
Page: 95-99
DOI: 10.5272/jimab.1632010_95
Online date: March 31, 2011

J of IMAB 2010; 16(3):95-99
Mariela Yaneva-Deliverska
Institute for legal sciences, Bulgarian academy of sciences

Genetic information may come from many sources. These sources include a person’s family medical history, a clinical examination that diagnoses a genetic disorder, or a scientific test. Genetic testing is sought in various contexts for different purposes. The uses of genetic testing are likely to expand over time as the testing processes become easier to undertake and their practical uses become clearer
Medical practitioners use genetic testing to diagnose patients for treatment as well as for predictive, presymptomatic, screening and prenatal purposes. Practitioners request the various types of genetic tests through request pathways, which may involve referral of the patient to a clinical geneticist and also pre-test and post-test counselling.
The global efficiency of a genetic test is measured by three principal indicators: analytic validity, clinical validity, and clinical usefulness. The analytic validity of a test is determined by its capacity to identify a given genotype with precision and validity. Clinical validity corresponds to the ability of a genetic test to detect or predict the presence or absence of a phenotype or a disease. Clinical usefulness concerns the contribution to clinical decision-making and improvements in individual health that a genetic test can make.
Discrimination based on genetic information is especially pernicious because genetic markers nearly always only indicate an increased chance, but no certainty, that a manifested condition will develop.
People who fear they will lose their job or health insurance because of their genetic makeup avoid getting tested, never realizing the potential benefits of early detection and prevention. They also shy away from participating in medical research, hindering scientific progress and the ability to fully enter this new era of medical promise.
As a result, individuals and our society as a whole cannot enjoy the full benefits and savings that could be reaped from genetic science. Public concern about genetic discrimination will only increase as genetic science advances and becomes a greater part of our medical care.
The risk of genetic discrimination takes a toll on individual health. The most critical benefit genetic testing offers is its potential to improve personal health by enabling individuals to better predict risk and possibly to prevent or delay the onset of serious health conditions.

Key words: Genetic counseling, Genetic disorder, Genetic information, Genetic testing, Informed consent.

Page: 95-99; FULL TEXT PDF (129 KB) Abstract & References

Please include this information when citing this paper: DOI: 10.5272/jimab.1632010_95

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