Genetic Screening
Genetic screening techniques are coming of age and the controversy that surrounds them is growing by the minute. The definition of genetic screenings is as follows: a systematic search for persons with a specific genotype. These tests that look into the essence of humanity, will allow scientist and physicians the opportunity and ability to alter the human genotype for better or worse. Genetic advancements will bring controversy at every milestone. Genetic Screening usually takes place when an individu al or group shows risk for a disease or trait.
The Genetic Screening Debate
Within the past thirty years, researchers have found strong evidence linking genes and disease. The development of predictive genetic tests followed shortly after the isolation of certain candidate genes. Although predictive genetic screening is only available for a handful of diseases, its effects and ramifications have become hotly debated issues in a wide range of areas, from government to religion. The debate began in the 1993 when researchers isolated the BRCA1 gene, which is associated with increased risk of developing breast and ovarian cancer.
Given advancements in technology and medicine, genetic screening and testing is becoming more commonplace in our society. The National Human Genome Research Institute (NHGRI) defines genetic screening as “a search in a population for persons possessing certain genotypes that (1) are already associated with disease or predispose to disease, (2) may lead to disease in their descendants, or (3) produce other variations not known to be associated with disease” (NHGRI, 2005). The term genetic testing is similar, but differs in that it only targets those individuals believed to be at high risk for a genetic disease. For example, testing an asymptomatic person in a family with relatives affected with the condition would constitute genetic testing (NHGRI, 2005). For the purpose of this paper, the two terms will be used interchangeably. Given the growing number of genetic tests available for identifying genetic diseases, it is important to examine the ethical implications of genetic screening as well as the arguments for and against this practice.
Genetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
The purpose of newborn genetic screening is to screen newborns for potential health concerns. Newborn genetic screening started in 1965 with the testing of one disorder, phenylketonuria (WDHS). Since then, newborn genetic screening has evolved and over 4 million newborns are screened in the U.S. every year (CCHC Report). Currently, in the state of Wisconsin, there are 47 different disorders that are tested for (WDHS).
Since their development and introduction to the field of medicine more than a century ago, genetic screenings have become incorporated in many fields of healthcare, including reproductive health and cancer prevention. Genetic screening is a method of identifying genetic disorders through the study of an individual’s DNA. They can be used to determine predisposition for various disorders such as Alzheimer’s, breast cancer, and sickle cell anemia. Genetic screenings inform individuals about their state of health and can help them make efficient choices in regard to disease treatments and prevention; however they have not gone without controversy. Many feel that such screenings can cause stigma and discrimination against individuals who have unfavorable genetic characteristics. Despite such social setbacks, mandatory screenings with anonymous data released to the public can help benefit both individuals and public health.
Genetic testing involves examining an individual’s DNA and identifying abnormalities within the chemical makeup of specific structures. It, essentially, maps the person’s genome and can be interpreted to predict future issues. By analyzing the chromosome, genes, and even certain proteins, physicians and researchers can find changes that lead to inheritable disorders. These changes can lead to possible diagnosis or cure for the disorder in question. In most cases, genetic testing is used to determine the probability that an individual will develop a certain disorder. It is not used to specifically diagnose a disorder, as there are no techniques that are 100% accurate. Genetic testing techniques do give good evidence to confirm a physician’s findings, but it is not the first act a physician takes to diagnose a disorder. It can narrow a search or rule out a specific disorder very confidently, but making a diagnosis based solely on genetic testing is not an action that a qualified medical professional would consider.
Genetic testing has become a highly controversial issue among both the general population and the scientific community. It is a process that exposes a person’s entire genome sequence, allowing it to be read and evaluated to identify potential risks for genetic diseases or diseases that could be passed onto offspring (Holt Productions, 2012). With thousands of genetic tests already being used, and more being established, it seems logical to put this growing technology to use. Some agree that it is a person’s right to know and understand his or her genetic makeup. However, others argue that, despite the benefits of genetic testing, caution should be used to carefully inspect the risks associated with this new technology.
Healthcare in America is in a crisis. By 1996, more than 43 million Americans were uninsured. By 2010, the number is expected to rise to 57 million. These figures are already shocking, but they are even more so considering that the healthcare costs of the US total $1.2 trillion or 15% of the gross national product (GNP) – the highest in the world.
Eng, C., and J. Vijg. 1997. Genetic testing: the problems and the promise. Nature Biotechnology 15:422-426.