What Role Does Genetics Play In My Personal And Professional Life

An important aspect that one must look into with respect to personalized medicine is the family health history, which is an invaluable tool reflecting upon a person’s genetic risk factors

Some counselors choose to focus their work on the regular practice of comforting and guiding families through the often traumatic process of discovering their genetic predisposition to a multitude of diseases. Other counselors can choose to gear their focus on the side of research. This type of counselor usually catalogs family medical history and information about pregnancy. The noting of this vital information becomes necessary as it leads to an increase in the study and understating of how patients will someday be able to carry out a normal life while simultaneously living with a genetic disease. ( Who Are Genetic Counselors? nsgc.org ) These are only a few examples amongst many others that give way to the wide variety of unique attributes I will be able to provide as a genetic counselor that would not be available in any other

As an adolescent, my enthusiasm for biology, knowledge, and assisting others attracted me to the medical field. The salary or glory does not appeal to me, since physicians must also commit to a grueling education, long work hours, and tremendous responsibilities. However, they bring optimism and joy to despairing patients. Doctors encounter mental challenges while diagnosing a patient, and immense satisfaction devising a solution. I intend to become a clinical geneticist, as I am inquisitive about genetics, particularly genetically inherited diseases. A

“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

I discovered Sommer Hayden, a genetic counselor specializing in cancer genetics based out of the Midland branch of the Mid-Michigan Health network. Sommer kindly allowed me to shadow her for an afternoon, where she explained to me the preparation undertaken prior to an appointment with a patient. I observed Sommer with a patient as well as she counseled them for testing of HBOC. I can still remember how I hung on Sommer’s every word, amazed at how she was using her knowledge of science and genetics to educate and counsel the patient in a way that they could easily understand. At the close of our day, Sommer mentioned that she would be in need of an intern in the summer months and suggested that I apply for the

People with a family history of a disease are more likely to get it. But, this is not always the case. Some people without any history of disorder in their family can still be at risk as well. Family history gives an idea if a person is more likely to get common disorders, including: heart disease, high blood pressure, strokes, cancers, and diabetes. Less common mutations on a single gene, like cystic fibrosis, can also be evaluated given a person’s family history (Inheriting Genetic Conditions 1). If natural selection is taken out of the equation for people that have diseases, then these genetic abnormalities get passed on. “Survival of the fittest” has always been the motto for Mother Nature. When medicine can cure or sustain a younger sick people’s lives for longer than biologically natural, they have an opportunity to reproduce. Reproduction for people with genetic diseases has possible negative consequences. The diseased individual passes on their mutated genetics to their offspring, who in turn pass it on to their offspring, and so on. Now, more humans have genetic problems than in the past. Down syndrome is a

Dr. Johanna Watson, renowned geneticist from the Mayo Clinic, stopped by our offices recently to explain the importance of getting regular physical check-ups and knowing one’s family’s medical history. In our interview with Dr. Watson, she explained that all of the questions your doctor asks are for a reason. She gave us a checklist of what you should know going into a physical exam and what questions you should ask your healthcare provider. Dr. Watson also shared her latest article, “Too Much [Information] Is Not Enough,” to explain why we should build our own family genetic profile in order to understand our own physiology.

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.

"Ms. Garcia -", I started, "We've noticed a complication with your son." Her face fell, and I knew in that instant her mind went rampant, replaying over every illness she's ever heard of. "He tested positive for Type I Citrullinemia." I gave her a few seconds to process the situation. "It is a rare inherited disorder that affects about 1 in 57,000 people worldwide." A wave of panic washed over her face and her jaw had dropped as I spoke. "Ms. Garcia- are you following what I'm saying?"
 She spoke after a slight pause, "You said inherited, does that mean I have this?” I clarified, "This condition is inherited in an autosomal recessive pattern, meaning both you and your partner were carriers for Citrullinemia, but aren't really affected. However there is a 25% chance that if you and your partner have another kid, he or she will have Citrullinemia"

I will want to know about my personal genetics if I have some potential diseases for an early prevention to reduce any risk of developing of them. In my father side, my grandmother, two uncles and two cousins had died of stomach cancer. Since I was a child I suffered digestive disorder, for that, I have the fear to develop this kind of cancer. Knowing more about my personal genetic analysis allow me to take preventive measures to improve my well-being such as, what kind of medicaments or diet I can make.

I have always found genetic disorders truly interesting. My mom works with people with genetic disorders, so I know quite a bit about some of them that chapter two talked about already. What interests me most is a mutation in a chromosome can cause a different disorder depending on which parent it came from. An example of this is the mutated fifteenth chromosome can cause Angelman Syndrome from the father or Prader-Willi Syndrome from the mother. Scientist also believe that additional or a missing genes on the fifteenth chromosomes have a correlation with autism. More information on the link between chromosome fifteen and autism can be found here: Autism and Chromosome 15.

There are a few challenges that come to mind about entering the field of genetic counseling. I know that clinical genetic counseling can become very emotionally taxing. There is a lot of uncertainty in the field of genetics. It can be a struggle to provide support for patients and their families when there may be no definitive solution to their predicament. There is the potential to become too emotionally attached in a given situation. It is important to provide the support for your patients while maintaining an emotional and professional distance. Everyone has their own biases. As a genetic counselor, it is imperative that we acknowledge our biases and try to move past them in order to give the best care to our patients.

As we continue to develop into an adult, we must look at our genetic factors to see what diseases we are at risk due to our family history. In my family we are at risk of hypertension which is also referred to as high blood pressure. This disease consists of “having abnormally elevated blood pressure which affects the way the heart pumps blood. A person diagnosed as hypertensive when his or her blood pressure is greater or equal to 140 nm Hg systolic pressure or 90 Hg diastolic pressure” (Whitbourne, 95). Behavioral changes that can meditate my genetic risk would consist of eating healthy and making sure I exercise enough to keep my blood flowing correctly. Several members from my father’s side have this disease and the maintenance that is

Genetic and rare diseases are a huge medical and economic burden on not only developing countries like my home country India, but also in the more developed western hemisphere. Growing up, I was fortunate to be surrounded by friends a majority of which were medically trained professionals, and I became increasingly aware of the importance of such diseases that are chronic and severely debilitating if not always truly lethal. International and national agencies continue to look for opportunities to strengthen preventive strategies that can cut this burden.

When looking through my family genogram I can right away identify a pattern to predispositions to genetics of health issues.