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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 …show more content…

Psychological distress with direct-to-consumer genetic testing: a case report of an unexpected BRCA positive test result. Journal of Genetic Counseling. 2012;21(3):399-401. doi:10.1007/s10897-011-9475-5. This case study reports a client who underwent elective direct-to-consumer (DTC) genetic testing in the absence of genetic counseling and discovered she had a BRCA mutation. The DTC she took was a single nucleotide polymorphism (SNP) microarray analysis advertised online. It was found that she had high levels of anxiety, distress and a lack of knowledge of what the DTC test outlined. The client admitted not being mentally prepared for the information she received. Genetic counseling helped lower her anxiety levels and eventually left her feeling empowered. The outcome of this case study supports that significant distress may be caused by DTC tests. Pre and post genetic counseling in conjunction with DTC may eradicate most of this stress.

Article Type: Case study

Comments: This case study highlights a main problem with DTC tests. The client went through amplified stress, which could have been avoided by genetic counseling. Interestingly,

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