What Is Genetic Screening?

health wellness

Genetic screening can be either a simple matter or a complex one. It may be motivated by the individual’s desire to rule out potential disease in self, present children or future children, or it may be used on a broad spectrum to find potential for genetic disease in large populations. It has also been used as a form discrimination, where patients who attempted to buy health insurance were “screened” out by insurers to avoid paying extra costs. Many governments now have specific rules governing how insurers, employers or others may treat genetic information.

In the most uncomplicated way, people may undergo genetic screening on a voluntary basis to determine if they have any possible factors that may predispose them or children to certain illnesses. Couples who have such factors for certain devastating diseases like sickle cell anemia, might want to determine if it is likely they will pass this on to children. In a screening of this type, couples could work with a genetic counselor and a geneticist. They might fill out forms about family medical history and personal history, an they would likely have DNA testing to see if they carry certain genes.

Sometimes the presence of a genetic illness in one child makes parents anxious to get all other children tested. In this case a whole family could go through a genetic screening. Information garnered can prove very helpful. Some people inherit a disease directly, while other people become carriers of the gene that causes the disease. While being a carrier is far preferable to actually having something, it can still be difficult and make the decision to have children at a future point more challenging. On the other hand, many times carriers won’t pass on a disease to progeny unless they have mates that are also carriers (when diseases are inherited in an autosomal recessive manner).

Though genetic screening sounds like something new, it really isn’t. Many countries have laws that require the automatic screening of newborns for certain diseases, like hypothyroidism and phenylketonuria. Many parents also opt to do some forms of genetic testing on fetuses, in order to determine if the fetus will have medical difficulties or other conditions. There are some that argue this only for the purpose of aborting fetuses that are not healthy, but this not always the case.

The second definition of genetic screening is not only applicable to discrimination. By looking at the genetic information of populations, determination about likelihood of disease in various groups may be possible, and this information could prove to have strong benefits to human health, and help people determine whether individual, family or couple genetic testing would be valuable. Yet fear of information being misused has made many people very reluctant to hand over DNA samples for these studies, and it is difficult to conduct studies that are sufficiently wide in scope without significant financial backing.

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Written by Tricia Ellis-Christensen


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