Genetic Testing Case Study

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Complex inheritance health issues mean people inherit multiple chronic health diseases or issues that can lead to diseases, compounding the likelihood of chronic illness (Kristoffersson, Cassiman, & Schmidtke, 2010). Common medical problems that can be inherited such as high blood pressure and diabetes, can lead to an illness like congestive heart failure in someone who inherits these medical problems. This is because diabetes may make it easier to become unhealthy in relation to diet and the genes responsible for the higher potential for high blood pressure could make the arteries of the heart more vulnerable to damage. There are apparent factors that can be associated in a complex inheritance health issue. Genetic disorders like cystic fibrosis and sickle cell have simple origins (Kristoffersson, Cassiman, & Schmidtke, 2010). The parent or parents may have faulty gene that creates an environment for these kinds of diseases. However, other health issues are often more complex. Going back to obesity heart disease, add another complex health issue like obesity, and once can understand the need to identify the various factors that can lead to these health issues. The factors are combination of things like multiple faulty genes along with lifestyle, environmental, and social factors leading to complex or multifactorial disorders.

These kinds of disorders often do not have a clear-cur pattern regarding inheritance. However, they exist and can cluster within families. A good example of this is Sarah age 20, who is morbidly obese. Her mother has high blood pressure and her father has type I diabetes. She has elevated blood sugars, mild hypertension and has become anemic. Some of the reasons why she is like this could be genes, but also, she could be eating excessively, not exercising, and engaging in social behaviors like drinking that can further cause her health to decline.

2b:

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The majority of these tests examine single genes to help in diagnosing rare genetic disorders like Duchenne Muscular Dystrophy. Other tests look for rare inherited mutations like BRCA2 and BRCA1. However, recently, many tests are in development or have been developed to examine multiple genes to determine the likelihood of a person developing diabetes or cancer.
The Single Gene Disorder Testing entails a review of genetic records and the design of the genetic test. Then after they confirm testing and screen for single gene disorders, the person will have the data needed to determine if he or she has a specific genetic disorder. Multiple-gene panel test use next-generation sequencing, testing multiple genes, and give a percentage of the likelihood of something happening like cancer. Then because there are other factors to weigh in like environment and lifestyle, then the person decides on what direction to pursue.

Topic 3a:

Multigenerational family history tools are great for doctors and other health professionals to visually see and understand the medical histories of a patient’s family. There are several models that exist. The family tree model is a basic visual representation of every known relative of the patient including the patient, and their respective medical histories. “Families share environmental risk factors too, such as diet and lifestyle. Unhealthy factors that influence wellness and risks during pregnancy may be teased out from a family pedigree (such as tobacco and alcohol use, patterns of dealing with stress)” (Bennett, 2012, p. 175). There are other tools that rely on the internet to promote acquiring the knowledge of…

Sources Used in Documents:

References

Bennett, R. L. (2012). The family medical history as a tool in preconception consultation. Journal of Community Genetics, 3(3), 175-183. doi:10.1007/s12687-012-0107-z

Cohn, W., Ropka, M., Pelletier, S., Barrett, J., Kinzie, M., Harrison, M., … Knaus, W. (2010). Health Heritage©, a Web-Based Tool for the Collection and Assessment of Family Health History: Initial User Experience and Analytic Validity. Public Health Genomics, 13(7-8), 477-491. doi:10.1159/000294415

Kristoffersson, U., Cassiman, J. J., & Schmidtke, J. (2010). Quality Issues in Clinical Genetic Services. Dordrecht: Springer Science+Business Media B.V.

Madian, A. G., Wheeler, H. E., Jones, R. B., & Dolan, M. E. (2012). Relating human genetic variation to variation in drug responses. Trends in Genetics, 28(10), 487-495. doi:10.1016/j.tig.2012.06.008

 



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