Happy Medical Genetics Awareness Week! The goal of this week is to raise awareness of the invaluable contributions that medical genetics healthcare professionals make in the diagnosis, management and prevention of genetic diseases! Each day we will feature an amazing PA who works in the field of medical genetics!
Day 3/5: Meet Ashley Taylor, PA-C! Ashley is a PA at the University of Oklahoma Health Science Center. She works for OU Children’s Physicians in the genetics clinic.
Why genetics?
I chose genetics because it fits well with both my degrees as a dietician and physician assistant. I was able to spend time with our metabolic dietitian Ashley Ethriedge RD/LD during my dietetics training. During my training to become a dietitian, I was accepted into the University of Oklahoma Physician Associate Program. After finishing the Oklahoma State University dietetics program, I quickly transitioned to the University of Oklahoma physician associate program. Following graduation from the OU Physician Associate Program, a job opening was available in the genetics clinic and help was needed in the metabolic clinic. This was a perfect fit that gave me a chance to use my expertise in dietetics and medicine. I was able to develop other interests as well while training in the genetics clinic. I am passionate about helping patients with neurocutaneous conditions including Neurofibromatosis and Tuberous Sclerosis Complex. I enjoy participating in specialty clinics including the neurocutaneous team clinic and cleft team.
What does your typical day entail?
I work Monday through Friday and see patients in clinic 3-4 days a week. I see patients in the outpatient clinic and also help with inpatient consults and call coverage. I work mainly in the pediatric genetics clinic. Although our clinic is located at the Children’s hospital, we see both children and adults. We have a team of providers in our clinic including medical geneticists, genetic counselors, a metabolic dietitian, and a metabolic nurse. I see a wide variety of patients and examples include patients with inborn error of metabolism, neurofibromatosis, autism, developmental delay, and connective tissue disorders. A typical work-up includes obtaining a detailed family history and medical history, conducting a physical examination including a dysmorphology examination, developing a differential diagnosis, and coming up with a treatment plan. The treatment plan often times includes imaging, referrals, and genetic testing.
What is your favorite part of being a Genetics PA?
Patients are like family to me. and I enjoy the relationship that I have with my patients. I strive to help them in any way that I can. I particularly enjoy the metabolic clinic because with the newborn screening program, we have been able to diagnose babies with inborn error of metabolism at birth and start treatment quickly. With early treatment, we have been able to save lives and prevent the complications of these conditions. For example, with early treatment of phenylketonuria, our patients are able to attend college. Before newborn screening, many of these patients are in a wheelchair and unable to communicate. I also enjoy working with our neurocutaneous team. Through my career, different treatment options have become available, such as MEK inhibitors for the treatment of tumors in patients with Neurofibromatosis. These treatments have also saved lives and prevented severe complications of the condition. I am thrilled to work in an advancing field where new treatment options are becoming available and also enjoy participating in clinical trials to help find new treatments for these rare conditions. With the advancement of genetic testing such as whole exome sequencing, we have been able to diagnose patients that desperately want to find an answer. I am excited to see where our field will be in the next 10 years of my career!
