Diagnosis
editSee also: Prenatal diagnosis
Due to the wide range of genetic disorders that are presently known, diagnosis of a genetic disorder is widely varied and dependent of the disorder. Most genetic disorders are diagnosed at birth or during early childhood, however some, such as Huntington's disease, can escape detection until the patient is well into adulthood.
The basic aspects of a genetic disorder rests on the inheritance of genetic material. With an in depth family history, it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of stillbirth, or contemplate termination[1]. Prenatal diagnosis can detect the presence of characteristic abnormalities in fetal development through ultrasound, or detect the presence of characteristic substances via invasive procedures which involve inserting probes or needles into the uterus such as in amniocentesis[2].
Prognosis
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Not all genetic disorders directly result in death, however there are no known cures for genetic disorders. Many genetic disorders effect stages of development such as Down's Syndrome. While others result in purely physical symptoms such as Muscular Dystrophy. Other disorders, such as Huntington's Disease show no signs until adulthood. During the active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of quality of life and maintain patient autonomy. This includes physical therapy, pain management, and may include a selection of alternative medicine programs.
Treatment
editSee also: Gene therapy
The treatment of genetic disorders is an ongoing battle with over 1800 gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide[3]. Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient quality of life.
Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the disorder. How does one introduce a gene into the potentially trillions of cells which carry the defective copy? This question has been the roadblock between understanding the genetic disorder and correcting the genetic disorder[4].
Cited Sources
edit- ^ Milunsky, edited by Aubrey (2004). Genetic disorders and the fetus : diagnosis, prevention, and treatment (5th ed. ed.). Baltimore: Johns Hopkins University Press. ISBN 0801879280.
{{cite book}}:|edition=has extra text (help);|first1=has generic name (help) - ^ "Diagnostic Tests – Amniocentesis". Harvard Medical School. Retrieved 2008-07-15.
- ^ Ginn, Samantha L.; Alexander, Ian E.; Edelstein, Michael L.; Abedi, Mohammad R.; Wixon, Jo (February 2013). "Gene therapy clinical trials worldwide to 2012 - an update". The Journal of Gene Medicine. 15 (2): 65–77. doi:10.1002/jgm.2698.
- ^ Verma, I. M. (22 August 2013). "Gene Therapy That Works". Science. 341 (6148): 853–855. doi:10.1126/science.1242551.