How jscreen’s Telehealth Genetic Counseling Impacts Reproductive Decisions

At jscreen, we offer access to reproductive carrier screening (RCS) and follow-up genetic counseling through telehealth, giving individuals and couples valuable insight into their chances of having a child with a genetic condition. While RCS is a powerful clinical tool, it can also stir up complex emotions—especially when results reveal an increased reproductive chance (IRC) for having a child with a genetic condition. A recent study conducted by jscreen explores how people respond to this knowledge and how it influences their reproductive choices.

How the Study was Initiated

The study was conducted as part of the Master’s thesis work for a genetic counseling student, Katie Bruder. The genetic counseling team was interested in finding out how results can impact patients, so we decided to conduct two studies - this study and another that explores the impact of finding out a personal health risk from RCS results. Three of jscreen’s genetic counselors, Melanie Hardy, Karen Grinzaid, and Estie Rose, helped Katie complete this project and publish the information after her graduation. 

A Closer Look at the Study

We surveyed 1,075 individuals who were found to have an IRC, and 290 people responded—one of the largest groups studied on this topic to date. Participants were asked about their experiences with genetic counseling, their use of information, their anxiety levels, and how the results influenced their reproductive plans.

What We Learned

1. Patients Used the Information in Meaningful Ways‍‍

Respondents reported a wide range of actions after receiving their results:

• Sharing their results with others
• Recommending carrier screening to family and friends
• Seeking further medical advice and support

This highlights how genetic counseling empowers individuals with knowledge they find useful—not just for themselves, but for their families and communities.

‍

2. High Satisfaction with Telehealth Counseling

The majority of participants felt their genetic counselors were understanding, empathetic, and informative. Most did not feel a need to meet in person and were satisfied with the telehealth experience. Many said they felt confident explaining the basics of the genetic condition to others after their session.

‍

3. Anxiety Was Common—But It Changed Over Time

It’s natural to feel anxious when receiving sensitive medical information. Our study found that anxiety was highest at the moment of results disclosure, but many participants felt calmer as time went on. Interestingly, long-term anxiety was more strongly linked to how severe participants believed the condition was—not necessarily how likely it was to affect their child.

4. Reproductive Decisions Were Influenced by Perceived Risk and Severity
Over half of the couples with an IRC considered an alternate reproductive plan (ARP), such as IVF with genetic testing or prenatal diagnosis. The decision to explore these options was tied closely to their personal perception of the condition’s severity and the likelihood of having an affected child. This underscores the importance of how patients interpret their risk, which may differ from objective information about a condition or actual reproductive risk.

‍

Implications for Genetic Counseling

This study confirms that RCS through telehealth is not only effective but also well-received by patients. To enhance the experience further, genetic counselors at jscreen can offer additional resources—such as online educational tools or local healthcare referrals—for those who need more support after their session. Understanding each patient’s emotional and informational needs can help ensure they feel confident and informed in their next steps.

‍

In Summary

Our research shows that telehealth genetic counseling through jscreen empowers patients to make informed, thoughtful reproductive choices. Carrier screening provides more than just data—it offers clarity, options, and peace of mind. As we continue to make genetic information more accessible, we remain committed to supporting every individual and couple on their unique journey. For more information about how we can help support you on your testing journey, visit us at jscreen.org.

‍