What is Genetic Counseling?

July 09, 2020
By: NHRMC
GC blog CL upload

Genetic counseling blends the knowledge of medical genetics with counseling skills to provide patients with information about their genetic health. Genetic counselors (GCs) are patient advocates who seek to empower their patients by providing them with information and resources regarding potential diagnoses and testing. GCs review family histories, medical histories and potential genetic testing with their patients, enabling them to make informed healthcare decisions. GCs work in various specialties, including prenatal, pediatric, cancer, adult medicine as well as in laboratories.

NHRMC Physician Group – Atlantic Fetal Medicine (AFM) has its first genetic counselor with the recent addition of Hebbah Sayed-Ahmad MS, GC. AFM offers genetic counseling to anyone who is currently pregnant, those trying to conceive and to patients who've experienced a previous miscarriage or a stillbirth. Counseling can also help assess the risk of couples with a known family history of a genetic condition to inform their future reproductive decisions.

Sayed-Ahmad has joined the AFM team as a prenatal genetic counselor and enjoys raising awareness about the profession of genetic counseling and promoting access and care to minority and underserved populations. Sayed-Ahmad completed her Master's in Genetic Counseling at the University of Arkansas. Below, she shares information about the field and how she looks forward to serving patients.

Why did you become a genetic counselor? What do you enjoy the most about it?

As one of four children who share the same set of parents but look very different, I've always had an interest in understanding what causes that variation especially within families. I credit my high school biology course with introducing me to genetics. I went on to complete a Bachelor of Science in Genetics.

Working in a clinical setting with patients was something I knew I would enjoy. What really drew me to genetic counseling is the care GCs put in promoting and supporting patient autonomy. Providing patients with the background knowledge of genetics as it relates to their health, presenting patients with their care options, educating patients about testing and discussing potential results; those conversations are the part of being a GC I enjoy the most. 

What is a genetic counselor’s role in OB/GYN or Maternal Fetal Medicine?

GCs in the prenatal setting can have varied roles depending on the type of practice they work in. Reviewing a patient’s family history can provide valuable insight into additional factors that may contribute to increased risks during pregnancy. A GC is often tasked with addressing the primary concern that prompted the appointment but also taking the time to ask targeted questions to ensure patients are provided with the appropriate counseling and resources they need. GCs will develop a plan that includes discussion of personal medical, pregnancy and family histories as well as discussions regarding available testing and screening. GCs often work within multidisciplinary teams to provide patients more comprehensive care.

What can a patient expect when they have a genetic counseling appointment at Atlantic Fetal Medicine?

Patients who classify as high risk or are interested in genetic testing are scheduled to see me prior to their ultrasounds. In the era of the Internet, it is common that patients will have searched for information regarding an ultrasound finding or a condition and the results can be overwhelming to navigate, which can increase anxiety. Taking the time to answer these questions often helps transition into a deeper discussion around the reason for their visit.

Atlantic Fetal Medicine offers patients the most up-to-date screening and diagnostic testing available, including ultrasound screening for differences associated with genetic conditions, parental carrier testing, biochemical and genetic screening as well as diagnostic testing. Genetic counseling is rarely "one size fits all" so time is taken to really understand the needs and concerns of each patient. Patients then communicate which testing, if any, they're interested in having. Following this, we review family history and discuss any related concerns.

After meeting with me, patients who are currently pregnant will have their ultrasound to check for growth and development of their baby as well as to document anything new. After the ultrasound, the providers will review anything they're seeing and go over any additional questions.

How early into a pregnancy will you consult with patients?

There's no cut off for when the counseling session must be conducted. Some of the screening options during a pregnancy have limited windows of opportunity for when they would be informative, and some of the diagnostic testing also have specific time frames. For example, the earliest and most accurate prenatal screening can be drawn at 9 weeks and onward and the earliest diagnostic testing (CVS) during a pregnancy is offered between 10-12 weeks. Patients with referrals later in their pregnancy are still seen and can still benefit from genetic counseling.

Do patients see you because there is potentially something wrong? If so, in these cases, how do you put fearful patients at ease?

Being referred to a genetic counselor does not necessarily indicate something is “wrong” with the pregnancy; rather, genetic counseling may be recommended because there is something "different" about the pregnancy.

For example, women who are over the age of 35 at the time of delivery are classified as having "high-risk" pregnancies because of their age-related risk of a pregnancy with a chromosome difference. "Risk" can be a scary word to hear especially as it relates to the baby. I spend time reviewing what that risk might mean for each pregnancy. A woman who will be 35 when she delivers has a 1 in 179 chance of having a child with Down Syndrome or Trisomy 18 or Trisomy 13. That translates to a 0.56% chance for an affected pregnancy and 99.44% chance of the pregnancy not being affected, so many mothers will go on to have normal pregnancy outcomes. If additional screening and testing could be informative, we offer our patients all of the available options.

It's impossible to completely eliminate fear or anxiety from a patient's mind because there are limitations regarding what information testing can and cannot tell us, and there's a baseline risk (~ 3%) for any pregnancy to be affected with a major birth defect or genetic change/condition that might not be detectable prenatally. While a negative work up is certainly reassuring, there's no way to completely eliminate risk. Just as it’s important for me to begin each session by checking with the patient regarding their understanding and concerns, it’s also as important to check in with the patient throughout the session. The continued transparency goes along way as far as managing expectations and helping patients understand what options and resources are available.

I provide patients with my contact information regardless of the testing decisions made and encourage them to reach out if they have concerns or questions. My commitment to serving as a resource does not end when the appointment does, and I think just knowing that there is someone there who can help provide additional information can be comforting.

For more information about Atlantic Fetal Medicine, call 910-662-9480.

Categories: Your Health

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