Taking an Active Role in Health Care by Learning About Genetic Predisposition for Different Illnesses

Taking an Active Role in Health Care by Learning About Genetic Predisposition for Different Illnesses

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An overview of mutation detection methods in genetic disorders. Iranian Journal of Pediatrics. 2013;23(4):375-388. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883366/. Accessed February 3, 2014.
This research paper outlines common mutation detection methods used in genetic counseling to uncover preexisting genetic conditions. There are three main groups: single gene (errors in DNA sequence), chromosomal (structural damages) and multifactorial disorders. Molecular and cytogenetic techniques were discussed. The article stresses that an accurate diagnosis is essential for appropriate treatment. It reviews patterns of inheritance and describes a few chromosomal disorders. The concentration of these detection methods are focused on the diagnosis of pediatric genetic diseases. Cytogenetic techniques covered include karyotyping, fluorescence in situ hybridization (FISH) and comparative genome hybridization. Molecular techniques include polymerase chain reaction (PCR), DNA sequencing, DNA microarray and gel electrophoresis.

Article Type: Research Paper

Comments: I like this research paper because it very clearly summarized mutation types and detection techniques. It also gave a good review of patterns of inheritance. In order to conduct future research on the outcomes of genetic counseling, it is eminent that we are aware of all the different methods and their strengths and limitations. The article emphasizes the importance of accurate testing and diagnosis, particularly in children, since most hereditary disorders are manifested at a young age.

Key concepts/terms:
Single gene errors (X linked, autosomal, dominant, recessive)
Restriction fragment length polymorphism (RFLP)
Short tandem repeat (STR)

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...C tests. One theme cited was “recreation,” which leads to the speculation that the consumer is not well aware of the implications of the testing. Unexpected results can lead to more stress and anxiety, especially if they are not followed up by counseling services with an informed health practitioner. The research paper brings light to the fact that genetic testing is not always taken seriously, which may lead to further undue anxiety when the consequences of the testing become apparent.


“By learning about my genetic predisposition for different illnesses, I will be better prepared to take an active role in my future health care decisions.” pg 139

“Also, I'm hoping I'll find out that I'm distantly related to George Clooney - and that he'll want to meet me and then maybe we'll become friends, and then he'll fall madly in love with me and....” pg 142

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