Adult Genetic Screening, Testing, and Intervention: What Are the Consequences?

A longstanding concern about genetic screening and testing is that people at increased risk for a serious condition could face discrimination, which prompted passage of the Genetic Information Nondiscrimination Act (GINA) in 2008. Lawmakers have designed GINA to prevent discrimination from health insurers and employers. There is a question of whether it can be enforced 100 percent of the time.

Someone could obtain another individual’s private DNA information and tested without his or her prior knowledge or authorization. DNA is genetic material present in every cell of your body. DNA is extracted from not only blood but from saliva, skin cells, blood, and hair roots. DNA contains huge amounts of personalized information. We secrete it at all times. It is totally unique to each individual. It has in-depth information about blood-related family members. It can disclose information about your risk of illness. There is presently a potential risk that governments and companies can use it to identify and discriminate against individuals. Though its primary use is in criminal justice applications, DNA from large numbers of innocent people is being routinely stored for indefinite periods. Some states are considering privacy DNA related legislation aimed toward independent oversight and distribution of DNA information.

Direct-to-Consumer Genetic Testing (DTC) is experiencing explosive growth. Health providers do not need to approve this type of genetic testing. DTC is unregulated; there is no independent oversight. The primary marketing medium of DTC genetic testing is the Internet. The services offered range from predicting possible adverse reactions to medications to information for diagnosing genetic disorders. Companies offer subscriptions that are updated as new research and developments break ground. These tests claim to reflect intelligence level, decision-making ability, susceptibility to addiction and other traits. The consumer determines the credibility of the information. The apprehension is that results sent through the mail and/or Internet could be misinterpreted.

Genetic testing for disease has its limitations. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Some conditions commonly tested for include: Autism, Down Syndrome, Autosomal Dominant Polycystic Kidney disease, breast cancer, colon cancer, prostate cancer, skin cancer, kidney disease, Crohn’s disease, Duchenne Muscular Dystrophy, Familial Hypercholesterolemia, hemophilia, Huntington’s disease, Parkinson’s disease, sickle cell disease, Tay-Sachs. There is a powerful benefit from genetic testing for some hereditary forms of colon cancer. Less is known about the history and preventative measures for breast cancer. A positive genetic test result can actually prevent the disease by leading people to have early colonoscopy screening to find and remove precancerous polyps. Geneticists and genetic counselors discuss with subjects more specifically about what a particular test will or will not convey, and can help him or her decide whether to undergo testing.

There are emotional impacts. Learning that you or someone in your family has or is at risk for a disease can be frightening. Some people could also feel guilty, angry, anxious, or depressed when they find out their results are positive. Negative results may give subjects a sense of false security. Many diseases and conditions have no effective preventative measures or treatments. There is a question as to whether or not an MRI is more effective toward detecting breast cancer than a mammography. The most effective treatment for breast cancer, Prophylactic mastectomy, is unpopular. Thus, the benefits of genetic testing are lesser than with colon cancer. When you weigh the fact that many diseases have no cure against genetic testing, it decreases its allure.

Predictive or pre-symptomatic genetic screening of individuals is done for families with histories of genetic disorders before any symptoms of the genetic disorder appear in order to discover if they are at risk for developing the disorder. However, only a handful of disorders are preventable or even treatable.

A bright spot on the horizon is Pharmacogenetics Testing, (PGT), the study of how variations in the human genome affect the response to medications, utilizes DNA taken from mouth swab to discover genetic variations that could affect a subject’s clinical responses to medications. Medical providers customize profiles are to fine-tune and tailor the administration of medications to each individual subject or patient.

A trend toward genetics may renew public interest in Eugenics, which is attempting to improve an ancestry or race or by removing undesirable traits from members of that race. It is presented as a mathematical theory. Positive eugenics improving the race by enhancing desirable traits intelligence memory physical ability extended life span. The public deemed Eugenics notorious due to the use in Nazi exploitation of the disabled and handicapped during World War II.

Fascination with genetics is an inevitable part of our future. All being well, our bioethics will not be left by the wayside.

Genetics: Being responsible

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