Case History
Sasha and Eli are planning to start a family soon. They are of Eastern European Jewish background, and have been advised by their rabbi to consider preconception screening for "Jewish diseases". While neither of them has a family history of these conditions, they have been doing some reading about preconception and prenatal testing, and know that they want to rule out as many serious disorders as possible before pregnancy. They would be open to alternative family building (such as assisted reproduction or adoption) if there was a high risk for a serious disease in their children.
Question
You want to review benefits and limitations of ECS with Sasha and Eli. However, you have limited time, and you don't want to overwhelm the couple with technical details. Review the list of benefits and limitations of ECS with the couple's motivations, goals and medical history in mind.
Select two benefits and two limitations that you feel are most relevant to discuss with the couple.
Answer Summary
All of the benefits and limitations should be considered, but some will be more relevant given the patient's specific situation, motivations and expectations.
Primary benefits for Sasha and Eli:
Assesses a larger number of conditions and certain panels have greater sensitivity for rare variants. Sasha and Eli are interested in learning about as many serious diseases as possible. They are not yet pregnant, and feel the information from carrier screening could influence decisions about their approach to family building. Even though their ancestry is known, they could benefit from ECS because they feel that information about any serious disease would be actionable for them.
Primary limitations for Sasha and Eli:
Includes later onset and less severe conditions. Sasha and Eli may not be aware that ECS can include information that may not be relevant to reproductive decision-making and newborn care. For example, some ECS platforms include milder and later onset conditions, such as hemochromatosis or increased risk of thrombosis. You should explore with Sasha and Eli whether and how this information would be useful to them, and whether there are risks of having too much information. Some laboratories will allow customization of the panel.
Residual risk may be more difficult to calculate. Sasha and Eli's goal of "ruling out" serious diseases may reflect unrealistic expectations about the level of certainty that ECS can provide. You should help them understand that while a negative result can be very reassuring, no carrier screen can ever completely eliminate the risk for the diseases on the panel. The lab could calculate residual risk for diseases more common in the Jewish population. However, they may not be able to calculate Sasha and Eli's residual risk for some other rare conditions included on ECS.