A Day in the Life of a Cardio-Genetic GC

By Blake Vuocolo

We are excited to highlight the unique work of Abigail Yesso, a cardiogenetic GC in Texas!

Texas Transcript: When and where did you earn your genetic counseling degree? Where do you currently work?

Abigail Yesso: I earned my first master’s from Tulane University School of Medicine in Genetics and Genomics in 2016. I subsequently earned my Masters in Genetic Counseling from Baylor College of Medicine in 2021. I currently work at Texas Children's Hospital in the department of cardiology and specialize in inherited causes of arrhythmias and cardiomyopathies.

What inspired you to specialize in cardiogenetic counseling? Tell us about your journey of becoming involved with this specialty and the different patient populations you cater to in this field.

When I was interviewing for positions following grad school, I found myself drawn to understanding the overlap between these groups of disorders. We had relatively limited exposure to cardiomyopathy and arrhythmia disorders during my time in graduate school, which is largely just because of the small number of specializing GCs in this field. I was intimidated by the amount I needed to learn at first, but over time I have developed a degree of expertise that feels incredibly useful to my patients.

I've always been interested in working as a subspecialty GC in pediatrics. In graduate school, I had a strong interest in metabolic genetics, which introduced me to a lot of the cardiac phenotypes associated with inborn errors of metabolism. I find the psychosocial challenges that patients with "hidden" genetic disorders (like many cardiovascular diseases and IEMs) face incredibly gratifying to be able to navigate with patients. It can be a uniquely validating experience for a patient to work with a provider who understands these challenges, and meeting this need has become a major goal of my career.

I predominantly see patients who have a family history of cardiovascular disease - cardiomyopathies, arrhythmias, or unexplained sudden cardiac death - or patients who have new diagnoses of these disorders. These are very variable indications, so I feel like even after many years I'm still learning every day.

Tell me more about your work with postmortem testing and pathology. What role do you play in working with coroners during postmortem genetic investigations? How are cases identified, and what’s your involvement in the process?

I work closely with several of the medical examiners (ME) in Texas, predominantly Harris and Montgomery County, to help facilitate genetic testing for first degree relatives in cases of sudden cardiac death. Most of these cases are referred to us following completion of an autopsy. In some cases, the ME office is able to facilitate genetic testing for the decedent, and we can perform targeted testing for their relatives. In some cases, I facilitate the testing for the decedent using samples obtained from the autopsy and communicate those results to their next of kin. Much like all the indications I see, there is a lot of variability in these cases and the way each is handled. I've had to learn a lot on my feet - like how to interpret certain autopsy findings, what the policies are for sample retention following an autopsy, and which labs offer affordable testing options for postmortem genetic testing. I honestly would not have been able to navigate this at all without the help of my colleague, Taylor Dawson, and the Postmortem working group through NSGC.

What challenges/considerations are there when working with and ordering testing for these sudden cardiac death families?

There are three major barriers to postmortem genetic testing - time, cost, and sample availability. Often samples will not be retained following an autopsy, as this is not a standardized policy across the US. Each county has its own standard practice for how autopsies are handled, and this variability makes determining the feasibility of genetic testing quite challenging. If too much time has passed, often samples will be discarded or are no longer useful for DNA analysis. If a sample is determined to be available, the next major barrier is the sample type. The most useful sample is blood retained following toxicology testing, but this is not always stored following the exam, or the testing may have been performed at an outside lab. This is where cost comes into play. Some ME offices will require next of kin to pay for the release and/or transport of samples, and in addition to the cost of genetic testing, this may be a major barrier for families. Since insurance will no longer cover the genetic testing cost for a deceased person, families are responsible for all out-of-pocket expenses associated with genetic testing. This makes more expanded tests, like exome or genome, difficult to coordinate unless they are covered under a research grant. While more cost effective, these results may not be released in a timely manner to the family, thereby contradicting the utility of genetic testing for the purpose of identifying at-risk family members and ensuring they can access appropriate screening measures. Each case has its own challenges, but the perceived benefits to first degree relatives often outweigh the costs and limitations of this process.

Handling cardiac genetic results can be emotionally complex for families. How do you navigate consent, grief, and potential shock when delivering unexpected findings?

I wish that there was a single resource or tool I could point to that makes this type of counseling easier, but grief is such an individual experience. There have been positive results that patients have been overjoyed to receive and results that have felt like a devastating blow. I try to go into every pre-test counseling session with the intention of providing as much anticipatory guidance as possible, and this certainly alleviates the potential shock brought on by unexpected results. This is especially helpful given the overwhelming number of variants of uncertain significance that often return in cardiovascular genetic testing. I think transparency is key when discussing any type of genetic testing in a cardiovascular setting, but it is especially imperative in the setting of a sudden cardiac death.

The most common struggle for parents is dealing with the loss of a child and trying to do as much as possible to prevent the same fate for their other children. These are by far the most emotionally challenging sessions to navigate. Parents who have this experience carry an immense burden of guilt for not knowing their child was at risk for a cardiovascular condition and often feel they must do everything in their power to prevent the same thing from happening again. It is hard to tell a grieving parent that there are some things that are simply out of our control, and I often spend a lot of time refocusing on the things we can control now. This doesn't change the pain of that loss, nor does it provide a concrete way of preventing any other loss. This honest acknowledgment allows parents to experience their grief while also helping them reestablish some sense of control, which is the best we can do after they have suffered a devastating loss.

Regarding consent, postmortem genetic testing is obviously challenging. Who is best to advocate for the "right to know/not to know" for a decedent once they have passed? Is this right waved simply because the individual is no longer living? I have had cases where a parent has to navigate advocating for the rights to of their deceased spouse as well as the concern for the health and safety of their child. It is my job not only to highlight the utility of genetic testing for these families, but also the sensitivity of screening available for patients with a family history of these disorders. Genetic testing is not always required for an individual to be able to live their life with some degree of reassurance that they can carry into the future. Finding a balance between these options is certainly influenced by guidelines, but the decision is ultimately made by the patient and most heavily influenced by what information will provide them with the highest degree of reassurance.

What has been a valuable learning experience in your career path or journey?

As a graduate student, I was terrified of uncertainty. Not being able to give patients certain results, long-term expectations, or even an estimate of penetrance for a disorder was my worst nightmare. Cardiogenetics is filled with uncertainty, and over the years I've learned to embrace the value of helping patients navigate those experiences. Being transparent about what genetic results can and cannot tell us has become a core component of my practice, and I now find a lot of fulfillment in being able to weigh the pros and cons with families and help them determine a plan that works for them, rather than prescribing a concrete plan.

Outside of your career, what brings you joy?

I've always been an avid reader and lover of books. As much as reading is a personal escape for me, I also love discussing literature and sharing this joy with fellow readers. In 2022, I took over organizing a group called Queer Book Club Houston and have been at the helm of this group ever since. This community is near and dear to my heart, and I don't know what I would do without my QBC family.

What advice do you have for genetic counselors of the TSGC community who are looking to specialize in cardiogenetic counseling?

There are so many valuable resources out there that help guide anyone interested in exploring this specialty. Obviously, reaching out to the nearest cardiovascular genetic counselor is always encouraged - we love to nerd out about our field, and we would love to have more people voice an interest in our subspecialty. If there is not a practicing cardiovascular GC near you, the Cardio SIG through NSGC has some amazing resources and helpful folks who are always willing to talk through cases and offer advice on how to get more involved in cardiogenetics. Overall, it can seem like an intimidating amount of information, but I would encourage folks not to be afraid! As a former intimidated GC, I cannot imagine what my life would be like if I hadn't decided to jump into a subspecialty that was totally out of my comfort zone.

Abby and her colleagues see patients for cardio indications, and referral information can be found at https://www.texaschildrens.org/health-professionals/refer-patient/cardiology.