As quoted by Dr. Edward R.B. McCabe, ‘The 13-year effort to sequence the 3.2 billion base pairs of DNA in the human genome was indeed a scientific tour de force. The true challenge of genetics and genomics will be to understand the potential impact of the science on us as individuals and as members of social groups."
Since we are able to sequence the human genome, new practices occur from this allowing scientist to yield information about the genetic material inherited from parents to offspring. These are better known as Pediatric Practices, which allows testing being available for newborns and children who may be a concern due to their parents’ genetic mutation. Some practices include Newborn Screening, Predictive Genetic Testing, Prenatal Diagnosis, and Genetic Counseling.
In the case of Newborn Screening is a useful form of testing that can find 30 types of genetic diseases by using a simple DNA and/or blood test. Disorders like an inherited metabolic disorder, hearing loss, cystic fibrosis and fragile X syndrome are a few of the many disorders which can be identified in children by screening. Once identified, treatments and cures can be offered, permitting the individuals screened to have a healthier life without the genetically mutated disorder. Screening can also be used to follow through the genetic history of ones family if there have been known disorders in the family line.
Secondly, Predictive Genetic Testing is a form of testing that identifies mutated genes which lay inactive in the early years of a child, but activate during adulthood. This way of testing can help an individual to see if they have gained disorders and diseases passed down from previous generations. Predictive genetic testing allows the doctors to learn of and treat genetic mutations years, even decades, before symptoms appear; a classic example of such a disease is the Huntington’s disease.
Prenatal diagnosis is offered to many pregnant women to test if their baby is affected by genetic mutations. Since amniocentesis or CVS can test DNA for inherited mutations, a disorder such as cystic fibrosis is one of the many things that can be identified through prenatal diagnosis. Prenatal diagnosis offers expecting parents to learn of the child’s future health risks if there might be problems which may have occurred due to their family’s genetic history.
Lastly, genetic counseling is a simple method of asking the right questions about the family history of an individual. This allows the counselor to understand the genes which may be affected because of certain disease and disorders carried by their ancestors. Once counseled, one may decide to take advantage of tests and ascertain if they are also genetically disadvantaged.
All these forms of different testing’s occurred by sequencing the human genome. The 3.2 billion base pairs of DNA allowed for the scientists to find and treat diseases and disorders. There are ways of knowing the special ways human genes work and, with that, brings knowledge to us about the human body and its mysterious mechanisms.
http://www.uclahealth.org/body.cfm?xyzpdqabc=0&id=502&action=detail&ref=58
