What does it mean if premarital or pre-pregnancy genetic test results are positive?

If premarital or pre-pregnancy genetic test results are positive, it means that genetic changes (mutations) have been detected that may increase the risk of developing a specific genetic disease or passing it on to offspring. A positive result does not necessarily mean that the individual will develop the disease; they may be a carrier of the disease-causing gene without showing symptoms, but could still pass it on to their children [1].

In Jordan, thalassemia screening before marriage is mandatory. If the results indicate that both partners are carriers of the disease, genetic counseling is offered to clarify the risks of having children, although this does not prevent the marriage if both parties insist on it [4].

Understanding Positive Genetic Test Results

Genetic tests look for changes in DNA that may cause diseases or other health conditions [1]. When a result is positive, it indicates the presence of these changes. For instance, in the case of Lynch syndrome, which is the most common cause of hereditary colorectal cancer, having a mutation in the genes responsible for repairing DNA errors increases the risk of developing certain types of cancer [3].

It is important to understand that a positive result may not provide complete information about the severity of the disease or its progression over time [1]. An individual may be a carrier of the disease gene without showing any symptoms, but they may have a higher risk of passing this gene to their children [1].

Next Steps After a Positive Result

After receiving a positive genetic test result, the following steps are strongly recommended:

• Genetic Counseling: This is considered the most important procedure. A genetic counselor, who is a specialist in genetics and counseling, can help in understanding the results more deeply, explaining the risks and benefits, and providing the necessary support [1]. In Jordan, genetic counseling clinics are available, especially for patients with phenylketonuria (PKU) and favism, and for those planning to marry who are carriers of thalassemia minor [4].
• Further Testing: A doctor may recommend additional tests to confirm the result or to assess the risks more accurately.
• Family Planning Options: Depending on the type of genetic disease and the associated risks, family planning options can be discussed with the genetic counselor and physician. These options may include assisted reproductive technologies to reduce the risk of transmitting the disease [1].
• Medical Follow-up: If the result indicates an increased risk of developing a specific disease, the physician may recommend a follow-up program or early, regular screenings to detect the disease in its early stages [1].

Emotional and Social Considerations

Positive genetic test results may trigger various emotions such as anger, depression, anxiety, or guilt, especially if the disease has no effective cure [1]. It is important to seek psychological and social support during this period. The genetic counselor can direct individuals to appropriate resources for support [1].

For more information about genetic testing in general, you can visit Genetic Testing Before Marriage and Pregnancy: A Comprehensive Guide in Jordan (Arabic).

The Importance of Genetic Counseling

Genetic counseling is the cornerstone of handling positive genetic test results. It provides accurate, personalized information about the genetic condition and helps individuals make informed decisions about their health and the health of their families [1]. It also contributes to health education for affected families and provides medical advice [4].

Medical references

• Genetic Testing
• About Lynch Syndrome