Myriad Genetics Blog Peace of Mind, with Counsyl Peace of Mind, with Counsyl July 16, 2018 clinical Counsyl Complete Genomics and Genetic Counseling Abby Eblen, MD shares how she helps her patients find answers and navigate the genetic screening process Disclaimer: Guest post by: Abby Eblen, MD, Fertility and IVF Specialist at Nashville Fertility Center and member of Counsyl’s speakers bureau [youtube https://www.youtube.com/watch?v=J5k2FkR7dvg&w=560&h=315] Charting a Path for Couples Struggling with Infertility What I love most about being a Fertility and IVF Specialist is seeing patients build their families. For many of my patients, it is a challenging yet rewarding journey. What my patients really want to know is what they need to do to have a healthy pregnancy. Struggling with infertility can be a debilitating experience for a couple. In many cases, patients enter my office after having struggled for months or even years. If I am able to help them, I have the joy of seeing them transform from a state of devastation and overwhelming frustration to one filled with excitement and hope for the future. Seeing a couple at their first ultrasound is a wonderful experience, and it is that type of success story that motivates me every single day. Finding Answers Because patients come to us before they are pregnant, we are in a position to begin the genetic screening process early. Although this may feel daunting for some, Counsyl makes the process easy. With Counsyl’s support, I can do my job and ensure my patients have the right information to have a healthy pregnancy. With Counsyl, patients have peace of mind – knowing they have done testing to help ensure a normal pregnancy. Earlier in my career, genetic screening was challenging and expensive. We could only screen for a few genes, and it was difficult to determine which screen was relevant for which patient, especially since most couples did not know their family history beyond a generation or two. Without a genetic counselor in my office, it was challenging to discuss the results and navigate to the next step. Now, I can offer one screen for all my patients and quickly learn if they are a carrier. With the Counsyl Foresight™ Carrier Screen, I can screen for 176 genetic conditions. As a fertility specialist, if my patient is a carrier, I can then recommend further partner and diagnostic testing to determine if the patient’s pregnancy is affected by the genetic condition. Educating My Patients and My Practice Genetic screening can feel overwhelming to patients, especially when they see a list with 100+ conditions. I try to simplify it for my patients and I only recommend action if both partners are carriers for the same genetic condition. If this is the case, the couple generally has a 1 in 4 chance of having a child affected by the condition. At that point that we would do further testing or treatment. Like me, some physicians and health care providers might be intimidated by the large number of conditions on these panels. We may not feel equipped to discuss all these potential conditions with our patients, especially given the rapid pace at which the field of genetics moves. I quickly realized I only needed to introduce the screen, and Counsyl would help with the rest. At the patient’s first visit with us, our nurses will give them Counsyl’s pamphlet and walk them through the details. When I come in, it only takes a few minutes to review the screen before the patient is able to decide if proceeding with the screen is right for them. Easing the Cost Conversation When I see patients, many are concerned with the costs of genetic screening. Counsyl is very transparent with costs, and patients really appreciate that. I did not go to medical school to talk about bills. I just want to take care of their health. Within 48 hours of ordering a test, Counsyl sends an email to my patient letting them know exactly what their out-of-pocket cost will be along with information on financial assistance and payment plans. Their commitment to cost transparency gives my patients the information they need so that I can focus my energy on the clinical aspects of their pregnancy. Navigating Results Counsyl continues to provide support even after results are ready. We really see Counsyl as an extension of our team. In my practice, results are sent to me and to my patients at the same time. It is important to me that my patients view their results and clearly understand what they mean, even when the results are negative. Counsyl takes the time to communicate with each one of my patients — and if my patient does not immediately respond, they will follow up with her until she views her results. It’s also convenient that it is all documented. I can easily see if my patient viewed her report or had a genetic consult and, if so, what questions she asked and had answered. This helps me prepare for my patients’ next visit. Understanding Next Steps If my patients have specific genetic questions, they have easy access to Counsyl’s genetic counselors. They are prepared to answer any question my patients might have about their results and what they can do next. Counsyl holds their hand throughout the process. I seldom need to review results in detail with my patients during their follow-up visit because most have already connected with one of Counsyl’s genetic counselors and had all their concerns addressed. Detailed notes from each consult are provided so I am kept in the loop. Providing the Best Care For my Patients Always, my goal is to provide the very best care possible for my patients. Counsyl’s genetic screens and support throughout the entire process with Counsyl Complete™ help me achieve this. Together, with Counsyl, I am able to help couples have a healthy pregnancy and child. With knowledge there is power. The more we know going into a pregnancy, the more peace of mind I can provide my patients. Disclaimer: Dr. Eblen is a member of Counsyl’s Speakers Bureau.