Problems Associated With Genetic Diseases Essay

Problems Associated With Genetic Diseases Essay

Length: 1153 words (3.3 double-spaced pages)

Rating: Better Essays

Open Document

Essay Preview

Though there is no single definition of rare diseases, the term is most often used as an umbrella encompassing life threatening or chronically debilitating diseases, which affect less than 1 in every 2000 people in Europe or 1 in every 1250 in USA (Remuzzi and Garattini 2008; Department of Health Western Australia 2015). While these limits are widely recognised, the majority of rare diseases have a much lower prevalence (Remuzzi and Garattini 2008). Although individually uncommon, collectively, rare diseases are estimated to affect up to 8% of the population or approximately 1.2 million Australians (Aymé and Rodwell 2011; Department of Health Western Australia 2015). Around 80% of these rare diseases are associated with a genetic cause (Department of Health Western Australia 2015). Genetic diseases are the result of variations in the DNA such as: coding or splicing single nucleotide variants (SNVs), copy number variants (CNVs) and coding or splicing insertions and deletions (indels) (The Deciphering Developmental Disorders study 2015).

Despite extensive research and numerous discoveries on the causes of genetic diseases via phenotypic diagnosis, up to half of children suffering from such diseases remain without a genetic based, or molecular, diagnosis (The Deciphering Developmental Disorders study 2015). Thus while phenotypic diagnosis has been a useful tool over the past three decades a new genetic take has been required in order to increase the efficiency and accuracy of rare disease diagnosis (The Deciphering Developmental Disorders study 2015). The ability to diagnose rare diseases is challenged by their infrequency; as they often affect few individuals and families per disease, which results in a lack of sufficient informat...


... middle of paper ...


...e how the disease is managed. The efficiency of NGS does however, have a positive impact on the expense and time required for and thus the accessibility of a diagnosis (Jamuar and Tan 2015).

The advent and subsequent utilisation of NGS has had an enormous impact on the ability to diagnose rare diseases through its affect on the speed, cost, efficiency and accuracy with which data essential to diagnosis can be generated. Its use coupled with bioinformatic analysis of the data has revolutionised genetic diagnosis from the traditional, yet still utilised, methods such as; the more expensive Sanger sequencing and FISH; which has a limited resolution The efficiency benefits of NGS enable diagnosis earlier and with greater availability/accessibility to patients and allow more efficient treatment, management and genetic counselling options for patients and their families.

Need Writing Help?

Get feedback on grammar, clarity, concision and logic instantly.

Check your paper »

Prenatal Genetic Tests: The Future of Procreation Essay

- ... Either way, preimplantation genetic diagnosis would eliminate the doubt of parents having a baby with defective genes leading to a scenario where they may wish they hadn’t had the child. Preimplantation genetic diagnosis isn’t a procedure that doctors are able to do to every pregnant mother because it requires informed consent. Informed consent is important so that she fully understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results....   [tags: genetic engineering]

Better Essays
2639 words (7.5 pages)

The Benefits of Genetic Engineering Essay

- Almost three decades ago, on July 25, 1978, Louise Brown, the first “test tube baby” was born (Baird 1). With this birth another controversy broke out, do humans have the right to make life. Most of the concern comes from the fear of control over the production and development of human beings. But, those who are against cloning would most likely look the other way if they needed gene therapy after receiving a grim diagnosis. There are many aspects of genetic engineering and to thoroughly understand it looking into each is absolutely necessary....   [tags: Genetic Engineering ]

Better Essays
1443 words (4.1 pages)

Genetic Testing and Reproductive Freedom Essay

- To many people today, the journey to personhood begins in the process of In Vitro Fertilization –IVF. The dramatic advances in this field has led to the ability for genetic alterations associated with diseases and other inherited characteristics. These two independent fields of genetic testing and IVF each present some issues that are technically, legally and ethnically complicated. Genetic testing allows for parents to choose which embryos to implant in a woman based on the genetic tests results....   [tags: Genetic Engineering]

Better Essays
986 words (2.8 pages)

Genetic Information vs Privacy Essay

- The genetic technology revolution has proved to be both a blessing and a blight. The Human Genome Project is aimed at mapping and sequencing the entire human genome. DNA chips are loaded with information about human genes. The chip reveals specific information about the individuals’ health and genetic makeup (Richmond & Germov 2009).The technology has been described as a milestone by many in that it facilitates research, screening, and treatment of genetic conditions. However, there have been fears that the technology permits a reduction in privacy when the information is disclosed....   [tags: Genetic Testing]

Better Essays
699 words (2 pages)

The Benefits of Genetic Engineering Essay

- Outline I. Thesis statement: The benefits of genetic engineering far outweigh its potential for misuse. II. Genetic Engineering A. Definition of Genetic Engineering. (#6) B. Who invented Genetic Engineering Gregor Mendel (Christopher Lampton #7) Thomas Hunt Morgan (Christopher Lampton #7) III. Benefits of Genetic Engineering A. Genetic Screening (Laurence E. Karp #4) B. Gene Therapy (Renato Dulbecco #6) C. Cloning D. Genetic Surgery (Christopher Lampton #7) E. Benefits in Agriculture (David Pimentel and Maurizio G....   [tags: Genetic Engineering Research Papers]

Better Essays
2500 words (7.1 pages)

Genetic Testing and Screening Essay

- Genetics provide powerful knowledge that is changing humanity’s view of itself and its relation to rest of the universe. Genetic, cytogenetic and molecular genetic studies showed the relatedness of human being to other living things on the planet, including plants, fungi and bacterium (4). Little change in DNA contributes to human variations. So, genomic variations of human species are being studied through DNA analysis from populations, families, and individuals worldwide. Human Genome Project (HGP) was proposed in the 1980s and was formally initiated in 1990....   [tags: Genetic Screening Essays]

Free Essays
2391 words (6.8 pages)

Genetic Testing and Screening Essay

- Genetic Screening Imagine yourself as a 26-year-old pregnant female. You have just been genetically screened and you found out that you carry a gene for breast cancer. This gene almost always causes breast cancer in early adult hood. Your daughter-to-be has just inherited this gene. You have the following options; a) Abort the fetus and discontinue a disease that won't show signs for decades. b) Carry out the pregnancy and pray that your daughter is lucky and won't develop the breast cancer until maybe a cure for the disease has been found....   [tags: Genetic Screening Essays]

Better Essays
2121 words (6.1 pages)

Genetic Testing and Screening Essay

- Many things are changing at an extremely rapid rate in our society. The new advances in the areas of science and biotechnology are raising many ethical and moral dilemmas for everyone. No one will be left unaffected. Everyone will have to make a decision and take a stand on these issues. I will discuss advancements of genetic screening and testing. The first step to any ethical problem is to understand the topic. It is difficult to formulate accurate ideas without knowledge about the topic, so first I will provide a little background information on genetic screening....   [tags: Genetic Screening Essays]

Better Essays
1882 words (5.4 pages)

Genetic Testing and Screening Essay

- Current research from the human genome project has identified numerous genes that are responsible for genetic disorders impacting society. This knowledge provides us with opportunities to test children and adults to predetermine genetic disorders/diseases and make educated decisions about options available. The U.S. Congress' Office of Technology Assessment (OTA) defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition." In contrast, genetic screening is defined as the systematic search of populations for persons with latent, early, or asymptomatic disease and is distinguis...   [tags: Genetic Screening Essays]

Free Essays
1565 words (4.5 pages)

Genetic Testing and Screening Essay

- Have you ever wondered what your children will look like. whether they will be boys or girls. or perhaps what your fate may be. Well, someday we may be able to answer all those questions and many more with genetic testing. Scientist are making new discoveries every day in the field of genetics that could possibly change our whole world as we know it. They are presently working on a project called the Human Genome Project, that will map and sequence the human genome. The basic goal of the ambitious research endeavor is to identify every gene found in the human body....   [tags: Genetic Screening Essays]

Free Essays
2723 words (7.8 pages)