Genetic Testing and Familial Hypercholesterolemia
Added on 2020-05-16
9 Pages1860 Words114 Views
Running head: GENETIC TESTING FOR FAMILIAL HYPERLIPIDEMIAGENETIC TESTING FOR FAMILIAL HYPERLIPIDEMIAName of the StudentName of the UniversityAuthor Notes
1GENETIC TESTING FOR FAMILIAL HYPERLIPIDEMIATable of ContentsControversies...................................................................................................................................2Knowledge to Translation theory....................................................................................................2Strategies for implementation..........................................................................................................3Individuals who will be involved....................................................................................................4Barriers............................................................................................................................................4Strategies to overcome barriers.......................................................................................................5Reference List..................................................................................................................................7
2GENETIC TESTING FOR FAMILIAL HYPERLIPIDEMIAControversiesFamilial Hypercholesterolemia/Hyperlipidemia or FH is characterized by elevated levelsof low density lipoprotein cholesterol or LDL-C and is caused as a result of the autosomaldominant disorder associated with lipoprotein metabolism. The most important cause of geneticcoronary heart disease is the heterozygous form of FH. Genetic testing is done in order toprovide definite diagnosis of individuals with high levels of LDL-C. Such genetic testing helpsto identify mutations in the genes such as LDLR, APOB, PCSK9, among others (Bruikman,Hovingh & Kastelein, 2017).Some of the controversies associated with genetic testing for detection of high cholesterollevels is that routine screenings of lipid levels by genetic testing are not done and according to the doctors they are able to diagnose the medical condition without the use of such genetic tests. Moreover, the costs associated with genetic testing although is reasonable but such costs are too high with respect to diagnosis of FH. However, physicians do believe that genetic testing would be useful in order to screen families having borderline levels of LDL or an adopted person can determine the FH status due to lack of access to family pedigree. However, genetic testing can beused to detect the presence of mutations that are associated with FH in children below 18 years of age since normal screening procedures will not be useful as these children do not show the presence of coronary heart diseases. Moreover, with the decline in the costs of the genetic tests, the issue associated with affordability does not apply no more (Ncbi.nlm.nih.gov, 2018).
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