Genetic Family History

A genogram is a type of family tree, but with more detailed information. It is often used as a diagnostic and assessment tool by physicians or counselors to obtain individual and family history in order to help in the establishment of a diagnosis and treatment plan.

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

Genetics - Certain genes can lead someone to have a higher risk of type 1 diabetes

This examination compiled the following information: Grandmother “C” has BRCA1 trait resulting in double mastectomy at age 35, prior to diagnosis Grandmother “C” only medical condition was hypertension,. Mother “M” information was obtained. Mother "M" provided the

This paper explores the concept of a familial genogram and the insight a familial genogram can provide. I have utilized three published articles to help clarify what a genogram is and what it is used for, what hypothyroidism is and its genetic components, and the connection hypothyroidism has to mental health. I have attached a familial genogram that explores the prevalence of hypothyroidism in my family tree. My diagram begins with my grandparents, through my parents, aunts and uncles, down to myself, my siblings and my cousins.

As controversy rises over the ability to test embryos for genetic defects one must chose a side. In this essay I will be examining the debate over the ability to screen for familial hypercholesterolemia in embryos. Familial hypercholesterolemia is a condition which often kills children before puberty. This condition causes elevated cholesterol and can cause angina at a young age. Many children with this disease die at a young age and most suffer at least one heart attack by their thirties. There is however, a treatable version of this disease which is the heterozygous variation. 1 in 500 people develop the heterozygous disease while 1 in 250,000 people develop the more serious homozygous variation. Critics argue that the ability to test for Familial hypercholesterolemia will allow couples to destroy embryos that have the potential to live healthy lives. In this essay I will argue that genetic testing for familial hypercholesterolemia is permissible.

The propensity for specific disease processes are found when analyzing a client’s family tree history. Typically, completing a genogram with at least three generations can show which disease processes show a pattern in a specific family tree. As figure 1 shows, the current generation has a predisposition for cardiovascular disease, diabetes, and cancer. The history complied spans four generations, with three generations on the paternal side, father, grandfather, grandmother, and great-grandfather, contracting heart disease, either suffering from a heart attack, having high blood pressure, or high cholesterol. On the maternal side, there is little information past the second generation. However,

hereditary disorder of Caucasians in the United States and is the most common cause of chronic

Heterozygous familial hypercholesterolemia current drug therapy statins, bile acid sequestrates, or other lipid lowering agents that lower cholesterol levels with relative success. Homozygous familial hypercholesterolemia (HoFH) is not treated well with standard lipid-lowering medications and needs costly methods to lower LDL-like apheresis or a liver transplant. HoFH occurs approximately 1 in 1 million births, creating a small population to gather data about treatments for this rare disease state. 1 Studies have shown that the best role of Juxtapid in familial hypercholesterolemia is as adjunctive therapy

After examining my family’s health genome, I am able to identify strengths and weaknesses of my family’s health. For strengths, my mother’s side has little to no health conditions or concerns. Also, neither side has had a history of cancer. However, there are some weaknesses in my family health tree. My biggest concern for my immediate family, and my dad’s side is hypertension and heart disease. Even though this may just be due to lifestyle factors, I think there may be a genetic factor involved as well. This is because hypertension appears in both my aunt and dad.

After completing this genogram, I feel that it has helped me understand a lot about my family health history. On my father’s side, we have a higher risk for diabetes, and heart disease. Meanwhile my mom’s family is more prone to hypotension. To prevent these health problems, I need to plan a healthy lifestyle such as exercise more regularly. Also, I need to start eating more healthy food like fish, vegetable, and avoid fast food. Furthermore, I should have my health check up regularlly, talk with my physician my concerns about diabetes. I feel a lot of these diseases are preventable if I understand what cause it.

Hypercholesterolemia is both a dominant and recessive disorder. The genotypes for the dominant disorder would be heterozygous and for the recessive disorder the genotype would be a Homozygous recessive. The two genotypes in the hypercholesterolemia disorder represent the severity of its affects will be. Both of heterozygous and homozygous version of hypercholesterolemia cause a loss of low density lipoproteins. Low density Lipoproteins are receptors in the liver cell that breaks down cholesterol carried in the blood, the loss of lipoproteins can cause severe consequences in an individual. In a heterozygous version of hypercholesterolemia an individual would have blood levels that are twice than normal due to the loss of lipoproteins. This would cause an individual to have an increase in cholesterol build up in the artery walls which can lead to serious heart problems. Homozygous recessive version is the worst

Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by mutation in the adenomatous polyposis coli (APC) suppressor gene on the long arm of chromosome 5 (Kennedy, Potter, Moir, & El-Youssef, 2014). Patients diagnosed with FAP had more than a hundred adenomatous polyps in their large intestine. FAP is dominantly inherited and is close to 100% penetrant (Hegde, Ferber, Mao, Samowitz, & Ganguly, 2014). Therefore, it is essential to have knowledge of the disease in advance in order to have sufficient medical preparation and family planning before the onset of the disease.

An assessment of a pedigree tracking as much assessable patient information to 4 generations was completed. The assessment was undertaken to see if a discernable genetic abnormality and/or trait may be responsible for the excessive cardiovascular disease in this particular family. Also where

Homozygous familial hypercholesterolemia is a genetic disorder inherited by parent or parents at birth in an autosomal dominant way. When the mutated gene is passed down through one parent it is known to be heterozygous but when both parents carry this mutated gene it causes a higher risk for the child to be born with a homozygous condition which is found to be a lot worse. Sufferers of Familial hypercholesterolemia also known as FH, have high amount of cholesterol from birth which in effect can cause early developmental problems with the heart in the future causing Atherosclerosis or CHD.