Chapter 3, Problem 1CS

CASE STUDY | To test or not to test

Thomas first discovered a potentially devastating piece of family history when he learned the medical diagnosis for his brother's increasing dementia, muscular rigidity, and frequency of seizures. His brother, at age 49, was diagnosed with Huntington disease (HD), a dominantly inherited condition that typically begins with such symptoms around the age of 45 and leads to death in one's early 60s. As depressing as the news was to Thomas, it helped explain his father's suicide. Thomas, 38, now wonders what his chances are of carrying the gene for HD, leading him and his wife to discuss the pros and cons of him undergoing genetic testing. Thomas and his wife have two teenage children, a boy and a girl.

What role might a genetic counselor play in this real-life scenario?

Summary Introduction

To review:

The role or the job of a genetic counselor.

Introduction:

Genetics is a part of science that deals with the study of the genetic material of an organism. This science also involves studying the genetic variation, mutations, and their inheritance. Genetic studies are not just important in theory but have many practical aspects to it. For example, the study of genes is important in agriculture to develop better varieties of crops, and in medicine to treat diseases.

Explanation of Solution

The term genetic counselor is given to a person who helps to provide information on a genetic condition to any patientwho may be prone to or might be going through. This they do by performing genetic tests, analyzing the data, analyzing the history of the patient’s family for genetic disorders like cancers, other diseases like muscular dystrophy, cystic fibrosis, etcetera, and then educating the patient for the same. Their job is not to tell the patient what decision they should take, but just to make the information available and talk them through difficult decisions.

They usually work in hospitals or clinics or genetic laboratories and help the patients to tackle the results of the diagnosis.

Conclusion

Thus, it can be concluded thata genetic counselor is the one who provides the patient with the important information of the genetic disorder to the patient might be suffering through or be prone to that disease. They also help to deal with the emotional setbackthat the patient goes through after the diagnosis.