Genetic Testing

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:
Genomic testing is another term for genetic testing and has been developed for the identification of thousands of diseases in infants, children, and adults (Kristoffersson, Cassiman, & Schmidtke, 2010). 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 family medical histories.
The second tool is the Health Heritage web-based tool. A 2010 study on its effectiveness noticed that is outperformed traditional models.
Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care (Cohn et al., 2010, p. 477).
This means that compared to the more traditional model this is the one I would choose because it is more convenient and allows for ease of use at home allowing greater chance for collection of family medical data. Without which, there would be difficulty understanding the risks for the patient.
3b:
A comprehensive health and physical assessment that includes information on environment, and genomic influences is imperative for most patients to undergo because it allows someone like me, a nurse, to understand more wholly, the problems facing the patient regarding his or her health. The best way to describe this is via an example. For instance, Katherine is a 50-year-old who is complaining of fatigue and anxiety. With a comprehensive assessment the results may say everything is fine, even the blood test results may deem it just anxiety and there’s nothing else wrong with her. However, understanding family history and potential genetic components, one may see what could be wrong with her. Katherine states that her mother and grandmother suffered from anemia. She also states that she has heavy menstruation. All of which could signal she has anemia. Her ferritin levels may be tested and if they are low, an iron supplement may be prescribed or iron infusion. However, without the prior knowledge, one would just assume she is suffering from anxiety without understanding the real problem underneath.
4A.
The BRCA1 and BRCA2 genes produce tumor suppressor proteins. When there is a mutation in these genes or they are altered, there may not be proper repair of the DNA damage. These damaged cells can then lead to cancer. This genetic mutation is inheritable and can lead to a higher occurrence of breast and ovarian cancer. Therefore, when people discover that they have these genes, they can take precautions necessary to avoid cancer like mastectomy. Some patients like Angelina Jolie famously had a double mastectomy to remove her chances of developing breast cancer because she presented with the mutation. This may be why health insurances companies may deny care. If the patient knows she has a mutation that can lead to breast cancer and does nothing about it, then gets breast cancer, this is more taxing and expensive for the health insurance company financing the treatment.
4b.
Warfarin has been the most often used anticoagulant. Identification of genetic variants related with the drug’s toxicity is principally central because “high levels of this drug can cause internal bleeding. Variance in warfarin toxicity can be explained by heritable differences in CYP2C9 and in the vitamin K oxidoreductase complex-1, VKORC1, an enzyme involved in the drug’s mechanism of action” (Madian, Wheeler, Jones, & Dolan, 2012, p. 487). So genetic testing can allow for identification of these heritable differences and then something widely used like Warfarin would be substituted for something more suitable to the patient. To standardize treatments, there needs to be additional options made available for those with heritable differences and then make that standard. That way, there is a well-known other option similar to Penicillin and those with an allergy to it.

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