What is genetic screening? 

There are many types of genetic testing. Some tests might tell you if you are a carrier of disease, which means you won’t actually have the disease, but you can pass it on to a child. Other test results might predict you will develop a disease or tell you you’re predisposed to (or at high-risk to develop) a condition. Other genetic tests are diagnostic, which means it will tell whether or not you currently have a genetic disease. Super complicated, right?

What do you do as a genetic counselor? 

Genetic counselors are health professionals with Master’s degrees and experience in the areas of medical genetics and counseling.  We assess risk by taking medical and family histories, and then we educate our patients as to their risks, their testing options, and their management options. I like to think we’re good at breaking down and explaining complicated concepts and helping our patients work through the genetic testing experience.

Why would you recommend couples get genetic screening?

I recommend that couples get tested for common conditions that could affect their offspring because in case they do learn they’re at risk to have a child with a genetic disease, they will be empowered with that knowledge and can make informed decisions about how to proceed with family planning. We are so lucky to have many reproductive options available to us, but these options can only be used if a couple is aware of their risk before something devastating happens. That is why my recommendation is that carrier screening be completed prior to a pregnancy. Exactly how close to a pregnancy is up for discussion, but I believe all testing should be done and updated, if necessary, before any pregnancy (not just a first).

What would you tell someone who is on the fence about getting screened?

I think it’s important that people understand that generally, their carrier status has no impact on their own health. In addition, with at least 1 in 3 of our patients testing positive, there should be no stigma attached to be a carriers. You could prevent a very serious situation from happening if you can look past the fear of finding out you’re a carrier and realize that it’s totally normal and has no relevance to who you are as a person or life-partner.

What do you think the biggest misconception is about genetic screening?

People think they understand the ins and outs of carrier screening, but they don’t quite get all the nuances. For example, many of my friends will tell me they don’t need genetic testing because they got tested before they got married and were found to be ‘genetically compatible.’ What they are missing here is that there are periodic updates to most genetic testing panels and that even if their results were ok a while ago, they could still carry a disease they haven’t been screened for yet.

Others will tell me that they don’t need to get tested because their partner has a different ethnic background so there’s no way they could both be carriers of the same disease. This is not true; while certain diseases are more common to specific populations, this does not mean that all other populations are immune from being carriers. Furthermore, many people think they know everything about their family’s ancestry, but I’ve seen that often people are surprised to learn they have mixed backgrounds.

I heard genetic screening is a really confusing process, how can I learn more about it?

People think genetic testing is a confusing process because in the good ‘ole days of genetic testing, you’d have to take time off of work or school to go to the doctor’s office, you’d have to give a lot of blood, and then you’d be slapped with a pretty big bill for all of this. To put it simply, testing was inconvenient. But it doesn’t need to be that way anymore.  The JScreen test is accessible to anyone in the United States 24/7 for a reasonable price. Using a saliva sample, anyone can get tested from the comfort of their home. We’ve revolutionized how carrier screening is done and we’ve heard so many praises from our patients as to the ease and simplicity of the testing process.

Who should get screened? 

I recommend that everyone planning a pregnancy, whether it’s a first or subsequent one, get tested. This applies to everyone, even people in interfaith or mixed-ethnic relationships. You never know who might be a carrier, and it’s best to find out before a pregnancy.

Is genetic screening safe?

Carrier screening is extremely safe. I would say the only risk involved in getting tested is the potential for positive results to bring anxiety to the patient. Of course, our genetic counselors are here for support and will talk patients through their result, but in certain circumstances, the results can be anxiety-provoking.

Estie Rose is a certified genetic counselor and outreach coordinator for JScreen. Estie graduated from Yeshiva University’s Stern College for Women and then went on to complete her Masters in Genetic Counseling from the Ichan School of Medicine at Mount Sinai. She has a special interest in community education and outreach, and is proud to be a resource for individuals of her own community who are facing genetic health issues.