Cardiovascular Diseases

Genetic testing is used to determine the risk of a patient or patient’s offspring developing genetic diseases. This is done with DNA sequencing in adults and preimplantation genetic diagnosis (PDG) on embryos. These methods of genetic testing are effective means of determining the likelihood of developing diseases such as Huntington’s disease, a disease resulting from trinucleotide repeat on chromosome 4p16.3 that causes uncontrollable muscle movement and decrease in cognitive function. However, they only determine probability, which isn’t an entirely reliable means of knowing whether or not symptoms will arise.

The presence of an FBN1 mutation that is associated with cardiovascular disease will confirm the diagnosis of this condition in the patient.

relatively rare single-gene or chromosomal disorders. But as result of advances in molecular medicine, genetics is now able to provide information about more common and accordingly more costly diseases such as Alzheimer’s disease, cancer, and coronary artery disease. It is the predictive ability of genetic tests for these diseases that makes them especially intriguing in adopting a preventive medicine approach and reducing overall healthcare expenditures.

Coronary heart disease (CHD), also known as ischemic heart disease is the most prevalent form of cardiovascular disease in Australia (Australian Institute of Health and Welfare, 2014). While over 20,000 of deaths in 2011 were attributed to CHD. There were estimated 590,000 Australians 18 years old and above diagnosed with CHD in 2011-2012 (AIHW, 2014; Craft, 2014, pg. 596). Myocardial ischaemia is a common form of CHD. A sufficient coronary artery blood flow is essential to supply oxygen for normal cardiac activities. Myocardial ischaemia develops when there is an insufficient supply of blood and oxygen to support the function of myocardial cells (Craft, 2014, pg. 599). A decrease in blood supply can led to the formation of atherosclerotic plaques by narrowing or occluding the arteries. Other conditions such as hypotension, coronary spasm, dysthymias, hypoxemia and anaemia can also decrease the blood and oxygen supply to the myocardial cells (McCance & Huether, 2014, pg. 1153)

Cardiovascular disease, including stroke and sudden cardiac death, is the leading cause of death in the world population, representing 30% of all deaths in 2008 (Wung et al., 2013). Understanding genetic variations related to cardiovascular disease is a tremendous undertaking because common forms of Cardiovascular disease seem to be impacted by many factors, including multiple gene involvement and environmental influence (Wung, 2013). Wung et al. (2013) focused on three areas of cardiovascular disease and reviewed the genetic research that has been done, the findings and the relevance of genetic testing. Wung et a. (2013), report that there is evidence to support coronary artery disease (CAD) and myocardial infarctions (MI) having traits that

For example, Alzheimer’s is connected to genetics. Five to fifteen percent of Alzheimer cases are genetic and run in families. Specific gene abnormalities may be involved. It may be inherited when only one parent has the abnormal gene because it is dominant. An affected parent has a fifty percent chance of passing on the abnormal gene to each child. In many cases, these genes increase the risk of developing Alzheimer’s, but do not guarantee that the disease will develop before they reach 65. One gene abnormality affected is apolipoprotein E (apo E), which transports cholesterol through the bloodstream. Scientists are also studying a number of regions in the genome that increases a person’s risk. They have identified 33 regions of interest in the Alzheimer’s genome (“About Alzheimer’s”). The gene gets passed on. It is the eighth leading cause of death in America. One theory of the cause of Alzheimer’s is when a protein called beta-amyloid builds up plaques in the brain. Alzheimer’s disease becomes an economic burden on the family as that patient needs long term care and

The sequencing of the human genome has a new approach to health care in regards to promotion, maintenance, and treatment. Genetic research is defined as a new approach to a better understanding of the genetic components of common diseases: Cancer, diabetes, stroke, and creating new gene-based technologies for screening, prevention, diagnosis, and treatment of both rare and common diseases. Nurses are a main aspect within the first line of care, and therefore will contribute fully in genetic-based and genomic-based practice activities such as collecting family history, obtaining informed consent for genetic testing, and administering gene-based therapies. Lea, D, (January 31, 2008). My paper is based on an article Genomics in the public

The primary interest of Dr. Euan Ashley involves the interplay between the human genome and cardiovascular performance. Among the other projects being worked on in his lab, some of them include investigating high throughput genetic techniques for developing tools for genetic risk assessment, specifically related to cardiovascular diseases and documenting the genetic profiles of elite athletes to gain insight into the genetic make up of those with good overall cardiovascular health. Of the many papers that have been published in the Ashley lab, two that stood out were published very recently, his 2015 JACC: Heat Failure paper, Cardiopulmonary Responses and Prognosis in Hypertrophic Cardiomyopathy and his 2015 Journal of Cardiac Failure paper, Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy.

Selecting the topic or genomic application to be evaluated; EGAPP staff, EGAPP working group (EWG), and EGAPP stakeholders group are involved in this process

Cardiovascular disease, including stroke and sudden cardiac death, is the leading cause of death in the world population, representing 30% of all deaths in 2008 (Wung et al., 2013). Understanding genetic variations related to cardiovascular disease is a tremendous undertaking because common forms of cardiovascular disease seem to be impacted by many factors, including multiple gene involvement and environmental influence (Wung et al., 2013). Wung et al. (2013) focused on three areas of cardiovascular disease and reviewed some of the genetic research that has been done, the findings of

Use of Genetic analysis to study the nature of the Smyd1b gene in Cardiac and Skeletal

Hypertrophic cardiomyopathy, also known as the disease of the sarcomere, is a common inherited heart disease with a diverse phenotypic and genotypic expression, clinical presentation, and natural history. It is the most common genetic cardiac disease and the first to be associated with a genetic background. It is caused by more than 1,500 mutations in 11 or more genes encoding thick and thin contractile myofilament protein components of the sarcomere, or adjacent Z-disc, which are expressed almost exclusively in the heart. Mutations in common genes: beta-myosin heavy chain and myosin-binding protein C, account for 70 percent of successfully genotyped patients with HCM, whereas mutations in several other genes account for less than 5 percent of patients with HCM.

Understanding genetic predisposition to disease and knowledge of lifestyle modification which has the potential to exacerbate a disorder or reduce the probability for disease is essential to achieve a deliberate and informed decision. For example, if an individual has knowledge of previous genetic susceptibility to cardiac disease at a young age, the person should consider a heart friendly diet and exercise as a daily routine to promote optimal cardiac function. Additionally, the person should consider that in some cases, lifestyle habits or exposure to chemicals may alter their biology.

Every individuals response to drugs is based on their genetic makeup. Pharmacogenomic allows physicians to treat patients according to their genotypical treatment match. With a better understanding of an individual’s disease through pharmacogenomics, treatments can be mainly focus on patient’s disease and is likely to be effective due to prior testing. This will prevent patient’s from having many medication side effects, advert effect, and drug toxicity. It will help in making a better decision when it comes to drug therapy. Healthcare will be less costive for the patient because physicians will only use drug that works best for a person and avoiding the unnecessary

Many, if not most diseases, have their roots in our genes. Genes, through the proteins they encode, determine how efficiently we process foods, how effectively we detoxify poisons, and how vigorously we respond to infections. In the past 20 years, amazing new techniques have allowed scientists to learn a great deal about how genes work and how they are linked to disease. This rapid pace of discovery of genetic factors, responsible for certain diseases, has allowed scientists to genetically test asymptomatic individuals and predict their risk of certain diseases. In this paper, I am going to discuss the following areas pertaining to the topic of genetic testing: