Genetic Counseling Case Study

The perfect combination of research, personal connection, and health care. Genetic Counseling is the practice of informing and advising patients who may have a potential risk of genetic disorders concerning appropriate testing methods, medical treatment, and many other critical decisions concerning their health. I have chosen to pursue the career of genetic counseling because it fulfills the dream I have had that I will one day be able to do research concerning genetics and interact with the patients that the research would affect. My decision to become a genetic counselor has been influenced by many factors; including my high school biology class, which played a part in introducing me to the profession, and my personal discovery of the unique

In order to get Sickle Cell Anemia, you must have the Sickle Cell Trait. This is defined as "A person who carries one sickle hemoglobin producing gene inherited from their parents and one normal hemoglobin gene." (3) People who only have one copy of the mutation have the trait. "It is estimated that 1 in 12 African Americans has sickle cell trait." (3) Having the trait will NOT cause SCD. However, having the gene does allow you to pass the mutation on to your children. In fact, "A child conceived by two people with sickle cell trait has one chance in two of also having sickle cell trait, one chance in four of having sickle cell anemia."(3)

Because people with sickle cell trait don't have the disease, they may never discover that they carry the gene. That's why it's recommended that teens who are unsure of their sickle cell status ask their doctors about testing. The National Institutes of Health recommends that all newborns be screened for sickle cell disease, and testing at birth is now required in almost every state. This helps infants with sickle cell anemia get the care and treatment they need right away.

The genetic counselor should have a great deal of experience in dealing with specific genetic diseases, including Tay Sachs disease. They would be able to provide a list of support groups and or families they could refer the Trosack 's to in order for them to relate to others who have been through the process before. This type of assistance is chosen as part of the interdisciplinary team to assist this couple, especially Rita in understanding what they will be going through and what emotions to expect in the process. It will

The sickle-shaped red cells interfere with normal blood flow by plugging up small blood vessels. Sickle-cell anemia occurs when an individual inherits a sickle-cell gene from each parent. Programs have been initiated to detect carriers, who do not themselves show the trait; such carriers are informed that a child resulting from the union of two carriers runs a one in four risk of having sickle-cell disease. Therapy for sickle-cell anemia is largely symptomatic. Preventive administration of penicillin to affected children by the age of four months greatly decreases mortality from infections.

Modern medicine now relies more and more on genetic science, so the demand for health care professionals who can assess and communicate these health issues is significantly increasing. This is because public awareness is growing in conjunction with scientific advances in reproductive technologies. Health care consumers now want genetics specialists who can provide highly accurate and advanced consultations regarding their unique genetic conditions. Most genetic counselors work with couples or single mothers who

The goal of the document is to persuade couples who are interested in prenatal genetic counseling to take the next step, and make an appointment with a certified genetic counselor.

In this article, sickle cell anemia is defined as a hereditary disease that destroys red blood cells by causing them take on an elongated and rigid "sickle" shape. In addition, a different type of hemoglobin called Hemoglobin S, is the protein in red blood cells that carry oxygen throughout the body. This protein starts to wrap around other red blood cells when oxygen is lacking to form a helical shape. Once this happens the cells cluster together and elongate and the cells start to "sickle". A person who has sickle cell anemia can only get it if both of their parents carry the sickle cell trait, if only one parent has the trait then there children are at risk for having the trait.

This is a confidential counselor’s report for Devin Deoxyribose and Thelma Thymine. It has come to my attention that as a couple you are concerned about the possibility of passing a genetic disease, Sickle Cell Anemia, to your children. I have examined both of your DNA samples and I can report the following test results. Devine Deoxyribose has the Genotype, S s for this disease which means you are a carrier for the disease. Thelma Thymine has a genotype, s s for this disease which means you have the disease. Genetic traits are passed down from parent to their children through genes on chromosomes found in the nucleus of the cell. Each parent contributes half of their DNA on 23 pairs of chromosomes. Genetic disease and disorders are passed

“Your heart is the center of infinity. Hold the passion and intention in your heart and stretch your body in opposite directions.” In yoga, these words help me focus on the physical awareness of my body and attain a greater stretch. In terms of my career, these words help to describe the path I have taken towards entering graduate school. Once I set my heart on genetic counseling, I obtained all of my experiences through the passion and intention I have to be a leader in the field. I will never forget the first patients I took pedigrees with; a non-native English speaker and a Chinese deaf couple with ethnic and cultural value systems. The challenges inherent in obtaining family histories in these cases quickly proved that each interaction

According to Berger (2014), a patient can receive genetic counseling to learn more about a condition/disease he or she may possibly be at risk for and may possibly pass onto their children (p. 88). A genetic counselor is educated and trained to describe to the patient the condition/disease, the benefits and drawbacks for taking the genetic test, the test results’ meaning, and how having the condition could affect their future children (Berger, 2014, p. 88). Then, the patient – not the genetic counselor – makes decisions about his or her next steps with respect to all the information they have been provided by the genetic counselor (Berger, 2014, p. 89).

Both parents must pass the sickle cell disease on for major type but if one parent passes it and the other doesn't, the offspring will have a lesser version with both healthy and unhealthy cells called sickle cell trait (NIH, 2015). Although this sounds detrimental, this more “minor” disorder is asymptomatic and can be the salvation for certain people (Rosenthal, 2011). Even though this disease is genetic, there was a person who discovered that it was originally environmental. So how would have this sort of condition come

Sickle cell disease is an inherited form of anemia. This means both parents must pass on the defective gene for a child to be affected. The gene is more common in families that come from Saudi Arabia, Africa, Mediterranean countries, India, the Caribbean islands, and North, South, and Central America of African descent.

Thousands of years ago, a genetic mutation occurred in people from the Mediterranean basin, India, Africa, and the Middle East. As the Malaria Epidemic attacked people of these countries, carriers of the defective hemoglobin gene survived. Carrying one defective gene means that a person has a sickle cell trait. Two parents with the trait will produce a child with sickle cell anemia. People of these countries migrated and spread to other areas. In the Western Hemisphere, where malaria is not much of a problem, having the abnormal hemoglobin gene has lost its advantage. Any child born from parents that each has the trait will be born with the disease.

This disease is a genetic disease and it is hereditary. It is inherited as an autosomal recessive disease. This means that in order to get the gene you must receive a recessive trait from your mother and your father. The parents could both be heterozygous for the trait and therefore not have the disease, but instead they would both be a carrier. There are only a few ways that the parents could possibly pass the trait. One possibility of having a child with sickle-cell disease is if both parents are heterozygous and they both pass on their recessive allele, (25% chance for offspring to have sickle-cell disease). Another possibility