Why Do We Conduct Genetic Testing?

The reasons for conducting genetic testing can be quite varied, ranging from family planning to medical diagnosis. Genetic testing can provide invaluable insights into our health, ancestry, and potential for disease susceptibility. Whether you're planning a family or seeking treatment for a new symptom, genetic testing can be a pivotal tool in your healthcare journey.

Understanding the Importance of Genetic Testing

1. Parentage Determination

Genetic testing is frequently used to establish parentage, resolving any doubts or uncertainties about biological relationships. This is particularly useful in legal and familial disputes.

2. Disease Susceptibility

Another significant reason for genetic testing is to identify the likelihood of developing specific genetic diseases. This information can be crucial for both personal and familial health planning.

3. Ancestral Origins

Genetic testing can reveal fascinating information about our ancestors’ geographic origins. It can provide a unique perspective on our collective human history and cultural heritage.

4. Detection of Disease-Causing Microbes

Besides human diseases, genetic testing can also detect the presence of disease-causing microbes, such as Hepatitis C, providing a basis for targeted treatment and prevention strategies.

Case Studies and Applications

Case Study 1: Genetic Counseling for Marriages

Consider a couple planning to get married who belong to an ethnic group with a high incidence of a specific genetic disease. They seek genetic counseling to ensure that their children will not suffer from this condition. Genetic testing can help identify if either partner carries the gene, enabling them to make informed decisions before conceiving.

Case Study 2: Neonatal Testing

A pediatrician encounters a newborn with unusual symptoms. When a syndrome called "Funny Looking Kid Syndrome" is found to be non-existent, genetic testing is performed to identify the underlying genetic condition. This information is essential for appropriate treatment and management of the child's symptoms.

Case Study 3: Prenatal Testing for Disease Prevention

Genetic testing is also used for prenatal diagnosis to identify if a fetus is at risk for a serious genetic disease. This can inform parents about the condition of their child and potentially allow for proper postnatal care.

Genetic Syndromes and Cancer Risks

Some genetic testing is conducted to detect carriers of specific genes that significantly increase the risk of developing cancer. For example, individuals carrying the abnormal BRCA1 or BRCA2 genes have up to an 80% risk of developing breast or ovarian cancer. This information can guide medical interventions and treatments, as demonstrated by Angelina Jolie's public letters in 2013 and 2015.

Practical Applications of Genetic Testing

Prenatal Testing

Identifying a sick or potentially sick fetus to ensure proper resources are available for care.

Allowing individuals to consider abortion after appropriate counseling, if they choose to do so.

Not everyone may find prenatal diagnosis particularly useful if they already have very strong opinions against abortion. However, it remains a recommended practice to provide the option of prenatal testing for all women. The decision whether to proceed with testing or not should be based on the couple's individual circumstances and preferences.

Conclusion

Genetic testing opens new avenues for understanding our health and heritage. It is a powerful tool that can significantly impact personal and familial health decisions. Whether it's to ensure clear parentage, detect disease susceptibility, or understand ancestral origins, genetic testing offers a wealth of valuable information.