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Communication In The Healthcare Courses And Topics
Health & Fitness

The Importance of Genetic Counseling Before and After Testing for Gene Mutations

Genetic testing to learn about one’s risk for medical conditions can provide actionable information, but that knowledge can also cause anxiety and fear. Genetic counseling is helpful in providing emotional support for people who want to learn whether they have inherited the risk for certain diseases. DNA testing through companies like Pathway Genomics, founded by Jim Plante, then can be ordered by the person’s doctor after sessions with a counselor.

Acting on Limited Information

Genetic counselors can make it clearer to their clients that these tests often have limited information. For example, how will the person act on the knowledge that he or she has inherited the genetic mutation increasing the risk of early-onset Alzheimer’s disease? The mutation does not verify that the person will actually develop the disorder. There currently is no known fully effective preventive strategy or cure.

The person might respond that being alert to potential early warning signs would be advantageous. This could allow for enrollment in clinical trials and starting cutting-edge treatments that reduce symptoms or delay disease progression.

Dealing With Unwanted Results

After testing, continued genetic counseling can guide people as they deal with unwanted results. It can help prevent them from making rash decisions and acting out in emotionally unstable ways. For instance, the medical literature discusses a family in which several members tested positive for a gene variation for polycystic kidney disease, with disturbing results. One young man got divorced and two more decided not to marry; another committed suicide.

There are significantly more positive ways to respond to those types of test results. This is evidenced by Mr. Plante, whose genetic testing has confirmed he has this same gene variation.

Testing During Pregnancy

Genetic counseling also can be useful if a pregnant woman and her partner want to have amniocentesis performed. The amniotic fluid drawn out is tested for certain conditions, most commonly for Down syndrome. Before the test, the individual or couple may want to discuss their options and how they would feel if the fetus is affected by the disorder. Some women choose to terminate the pregnancy. Others mainly want to have the knowledge so they are better prepared to care for the child.