Definition & Overview

There is a long list of diseases and disorders that can be passed down from one generation to another through our genes. Through genetic consultation, you can gauge the risks of them being passed on to your children.

Genes contain DNA, which is commonly known as the building blocks of life. DNA was first identified in 1869, but it wasn’t until 1943 when researchers identified its role in genetic inheritance. Since then, the study of human DNA has made numerous advances. Scientists have learned that certain patterns in DNA can lead to the development of diseases, disorders, and physical malformations.

In the past, nothing could be done to prepare for what we now know today as inherited diseases. In fact, no one knew that diseases could be inherited at all. With the knowledge of genes and DNA that is available today, families can gain the advantage of knowing what diseases they are more susceptible to and make the necessary preparations to minimize the risks of a certain disease from actually developing.

Genetic consultation has helped millions of families around the world to understand their situation and to prepare themselves for such occurrences. It has also helped them gain peace of mind by simply knowing what to expect and being prepared.

Who Should Undergo & Expected Results

Ideally, every family should undergo genetic consultation, but those who would benefit the most would be those who have a known genetic disorder or suspect that they may have one. Genetic consultation is also beneficial to parents who have children with genetic related diseases, or couples who are planning to have children and want to know the risk of passing on a specific genetic condition.

How Does the Procedure Work?

Genetic professionals, such as medical geneticists and genetic counselors, provide genetic consultation services. The consultation typically begins with an interview to determine the exact reason why you need to undergo such service and what you would like to accomplish. The flow of the consultation would then be in accordance with your goals, so there’s a chance that a consultation with one individual would be different from others.

Most people who undergo genetic consultation want to learn about a particular health condition they’ve inherited and the possibility of it being passed on to their children while others need help in analyzing the history of diseases in the family. Some parents need advice on a certain disease that their child inherited.

After the interview, it’s likely that you and other members of the family would undergo a series of genetic tests. Genetic testing involves obtaining DNA from the members of the family. The DNA is then tested to look for particular mutations that increase the possibility of developing a certain condition.

Once all the genetic tests have been performed and the results are released, the procedure moves into the genetic counseling stage wherein the genetic counselor explains the results of the tests and identifies diseases that run in the family.

It’s important to understand that although the genetic counselor will be able to explain the test results in detail, he or she will not be able to provide advice on precisely what you should do next. That decision will be up to you, but the counselor can give you different options or point you in the right direction.

Possible Risks and Complications

The risk associated with the actual genetic consultation process is in how the patient receives the information. While people are able to process disturbing information with a positive attitude, others may be overly concerned with the information, which may result in behavioral changes.

The majority of the risks are associated with the actual testing procedures. First, genetic testing itself is not perfect, which means that the results may be flawed or interpreted incorrectly. This can result in false-positive or false-negative diagnosis.

Also, pregnant women who undergo genetic testing to learn the chances of the fetus developing with certain abnormalities are at risk of a miscarriage. This is because the test involves obtaining a sample of the amniotic fluid and the process could put the pregnancy at risk.

References:

  • American Congress of Obstetricians and Gynecologists: "Genetic Disorders."
  • New York Presbyterian Morgan Stanley Children's Hospital: "Autosomal Recessive."
  • UCSF Medical Center: "Preconception Carrier Screening and Testing for Genetic Disorders."
Share This Information: