PA and Genetics News
Precision medicine is an emerging approach to disease treatment and prevention that considers differences in people’s lifestyles, environments, and biological makeup, including genes.
In a recent AAPA article, Debra Ryan, MS, PA-C, and DeShana Collett, PhD, PA-C discuss precision medicine and how it can be utilized in patient care.
Without incorporating genomic data into care and treatment of patients, educator DeShana Collett, PhD, PA-C, says, “We’re not making true informed decisions. We’re basing our decisions and our treatment on race, ethnicity-based calculators or algorithms which can be detrimental. It can actually increase the risk of having health disparities.”
The full article can be found on the AAPA website here!
PA Nguyen Park is a passionate advocate for PAs to become involved in genomic medicine. Park, the founder and president of the Society of PAs in Genetics and Genomics and AAPA’s representative to the NIH/NHGRI’s Inter-Society Coordinating Committee for Practitioner Education in Genomics, recognizes the value of this growing field of medicine. “By working in genetics, PAs can make a huge difference for their patients by providing the high-quality care we’re known for and by increasing access to care,” says Park, who graduated from the PA program at Wayne State University in Detroit, Michigan, in 2003.
The full article can be found on the PA Foundation Website here!
Pictured: Nguyen Park, PA-C, SPAGG President
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 5/5: Meet Laura Gardner, PA-C! Laura is a PA at the Greenwood Genetic Center. She is the Metabolic Advanced Practice Provider Fellow.
Why genetics?
In all honesty, genetics chose me. As a PA, I knew I wanted to have an ongoing and meaningful relationship with my patients, and I wanted to work with a team of compassionate, friendly, motivated, and intellectually-curious healthcare professionals. I found all of this and more at the Greenwood Genetic Center in Greenville, SC. I knew this was the field for me when I applied to a fellowship for advanced practice providers, knowing admittedly very little about the field of genetics. I walked in the door of GGC and was greeted by a community—a community of individuals who truly care and go above and beyond for their patients, and a community who educates and fosters learning in a way unparalleled in the medical community at large. I knew then that the field of genetics was going to give me what I dreamed of, and I was going to be able to give that energy back to my patients tenfold.
What does your typical day entail?
Depending on whether I am working in general genetics clinic, metabolic/biochemical genetics clinic, or with our Lysosomal Storage Disorders (LSD) population that day, I may see 1-5 patients. Visits with my patients in the LSD community are detailed and lengthy, and can sometimes take several hours! Following up with our patients in the Metabolic Clinic requires a lot of behind the scenes work, especially when it comes to tracking infusions, working with insurance companies to get medications approved, and researching the most up-to-date guidelines for the best possible management and care of my patients. There can be emergent situations too, so my schedule remains fairly flexible to allow for such unforeseen circumstances.
When I am not seeing patients, I am following up on genetic testing, counseling families on results, and keeping track of orders, labs, and infusion records. I spend a lot of time preparing for my visits with patients on the front end too, ensuring that I am informed of the most recent research, data, and therapies available for my patients. As I see patients with very rare genetic disorders, sometimes that means collaborating with the most knowledgeable specialists in the field and creating individualized plans for a patient from scratch. I am extremely grateful to my patients on a daily basis for the hope, exuberance, and joy they bring to my life and to the lives of those around them.
What’s your favorite part of being a Genetics PA?
I think it is obvious that the best thing about working in the field of genetics is the patients I have the honor of meeting and treating. There is nothing like working with a patient to help end the diagnostic odyssey, catching a disease trait early and providing counseling for a growing family, or finding out that there is a new treatment, clinical trial, or genetic test available to a patient that was not available the year before. The rapid pace at which this field is developing is certainly another draw. We are seeing new clinical trials, therapies, and technologies come to light on a near-daily basis, and this is exciting and invigorating to me. I like to be challenged in my work, and have found that genetics is the perfect field for ongoing education, professional development, and personal growth. Having all that, on top of working with some of the best and brightest caregivers in the world, makes this profession the most fulfilling and meaningful I could imagine.
Day 4/5: Meet Brittany Hoyle, PA-C! Brittany is a PA in the genetics department at the Medical College of Wisconsin.
I am a biologist at heart and had always enjoyed the topic of genetics while in school. I had the privilege of rotating through genetics while in PA school, where I fell in love with the field. Genetics particularly appealed to me as it had the fun mystery solving aspect, while it also provided the opportunity to develop relationships with and follow patients over long periods of time and help them at different times in their life. So after graduation I jumped at the opportunity to move to a new state to accept a job in genetics. As a new PA in the field, there is definitely a steep learning curve, but this is a field that will always stimulate my curiosity and ask more questions than answers, and so I know I will always be a continual student while working in this field.
I work in an outpatient pediatric genetics clinic, seeing patients in clinic 3-4 days per week. I work in a general genetics, metabolic, and rasopathy clinic. In general clinic we see children with developmental delays, autism, or epilepsy to name a few common conditions. A typical work-up involves detailed review of systems, review of past specialist visits, family history, developmental history, and a physical which includes a dysmorphology examination. In metabolic clinic we see patients with inborn errors of metabolism such as phenylketonuria or fatty acid oxidation disorders. Metabolic clinic can be different, because it involves more treatment and detailed management of the disease. Finally, in rasopathy clinic we see patients with neurofibromatosis type 1 and related disorders, Noonan syndrome, or Tuberous Sclerosis. This clinic involves evaluating patients for a diagnosis or following patients long-term to ensure they are receiving all the guideline evaluations. The days I am not in clinic, I am prepping for future patients, going over results of past patients, or managing imaging and prescription orders.
Genetics is an exciting and fast-growing field to be in. Each year with advancements in technology, we are adding to the depth and accuracy of our genetic testing. Families come to us after years of trying to find answers, and it can be really satisfying to help them come to a diagnosis. Getting to be a part of clinical and research trials is exhilarating, because I can contribute to this fast-evolving field. I think it is particularly exciting to be an advanced practice provider in this field as I see the potential for lots of growth.
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.
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.
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!
Day 2/5: Meet Wesley Patterson, PA-C! Wesley is a PA at the Greenwood Genetic Center (GGC). He is a founding member of SPAGG for which he serves as treasurer and web designer.
I absolutely love genetics! My interest in genetics started in high school when we started learning the basics of the human cell and DNA. Later while in undergrad, I had a summer internship in the research department at the GGC. From then I was hooked! After graduating from Clemson University, I worked in the molecular laboratory at the GGC for 2 years before going to PA school. While in PA school, I also had a clinical rotation at the GGC, which I loved! Upon graduating from PA school, I worked in family medicine before getting the phone that landed me back at the GGC. I love genetics so much that I am also pursuing a PhD in Healthcare Genetics through Clemson University, and my dissertation work is focusing on educating PAs and PA students in regard to genetics.
I work the typical Monday through Friday, seeing patients in clinic 3-4 days per week. In a typical day, I see 4-6 patients. I see mostly outpatient with the occasional NICU consult. I work in the general and metabolic clinics. My patient population consists of mostly children with developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, epilepsy, metabolic disorders, and birth defects. With each patient, I obtain a comprehensive medical (prenatal, birth, perinatal, personal) family history and perform a thorough physical exam. I review the genetic testing process, order the appropriate genetic testing, if indicated, and review the results with the patient and family. The days that I do not have clinic are spent interpreting genetic results and going through the literature to determine the significance of the results. I am also working with some PA schools in South Carolina to revamp their genetics curriculum.
Without a doubt, I would have to say the patients. In medical genetics, we serve a unique and extraordinary population. Being able to help this patient population is truly rewarding. A lot of work and compassion goes in to each of our patient visits in order to evaluate and care for our patients. Medical genetics is like a puzzle. We take the pieces (history, physical exam, etc.) and try to put the pieces together into a puzzle (syndrome). However, this can be challenging as we know that “diseases don’t read textbooks.” Nevertheless, in some cases we are able to end the diagnostic odyssey for a family and give them an answer, thus directing medical management and/or interventions. This is the most amazing feeling in our field. Another aspect of medical genetics that I love is the ever changing and improving technology. As technology improves, the diagnostic yield increases for our patients. The enviable goal is to find answers for all families, and I think with the amazing advancements in this field, we are heading in the right direction!
Day 1/5: Meet Jina Stephen, PA-C
My interest in genetics goes back to the days in my seventh grade class where we were learning about Punnett squares and mixing pea plants to see what kind of plant would arise from any particular combination. It is so fascinating to me to think that the smallest changes among 3 billion base pairs are what make us different, predispose us to certain conditions, make us more or less responsive to certain therapies, and so much more. The field of genetics is on the forefronts of so many discoveries to aid in prevention and treatment and being utilized to create personalized medicine which I also find so astounding and promising.
I currently function as a Genetic Counselor Extender for hereditary cancer syndromes to put it in the simplest terms. I recently completed the Intensive Course through the City of Hope and am now a "Trained Clinician in Cancer Risk Assessment". I see patients who have been referred by medical oncologists, breast surgeons, gastroenterologists, gynecologists and primary care specialists due to young cancer diagnoses, particular pathological findings, or concerning family histories. I perform comprehensive histories, draw and evaluate family trees, explain the genetic testing process and order appropriate testing for patients who qualify or are interested in genetic testing. Once the results are back, I meet with patients who test positive for pathogenic mutations to explain the implications of the results to the patient, their family members, and their healthcare providers. Some of the mutations identified help providers make decisions regarding surgical or pharmacologic management or screening modifications. When I am not seeing patients, I attend tumor boards and conferences where I also gather more information regarding my referrals, update patients regarding changes to variant status and am also currently working on implementing a risk assessment program at my institution.
What is your favorite thing about being a genetics PA?
Since I have transitioned in to this role, what I love most is the connections I am getting to develop with individual patients and their family members. In some cases, being able to find an explanation as to why someone may have developed a particular cancer (whether it be the type or the age at which they developed it) or to explain the cancer that has happened in their family provides patients and myself with some satisfaction and gratitude. We often say that in this field, we can save lives without knowing it. The idea comes from the basis that someone who tests positive for a pathogenic mutation provides one with the opportunity to perform screenings that may not have been performed in the general population and thus hopefully prevent cancer or catch it at its earliest stage to ensure the best outcomes. I also love being a part of these oncology teams that comprise of medical oncologists, breast surgeons, community specialists, pharmacists, pathologists, and radiologists to ensure that the patients are receiving the most personalized care we can offer them.
SPAGG was well represented at the 9th Annual Inter-Society Coordinating Committee for Practitioner Education in Genomics In-Person Meeting by SPAGG president, Nguyen Park, PA-C. She also attended Rare Diseases Day at NIH!!
PA Supervision Rules Largely Defer to State Law
Representing a significant victory for PAs in the patients they serve, the final 2020 Physician Fee Schedule rule issued by the Center for Medicare and Medicaid Services (CMS) changes Medicare supervision requirements for PAs by largely deferring to state law on how PAs practice with physicians in other members of the healthcare team. This change, advocated by AAPA, will take effect on January 1, 2020.
Please click here for the full article on the AAPA website.
This week some members of SPAGG attended the first annual Clinical Genetics Advanced Practice Provider (CGAPP) Conference in Milwaukee, Wisconsin. Pictured below (left to right) are the SPAGG members that attended: Sarah Feddersen PA-C, Brittany Hoyle PA-C, Wesley Patterson PA-C, and Alisha Searles PA-C. There were 36 APPs from 19 states that attended! It was an amazing conference, and we would encourage any PA or NP to attend!!
Please contact us at spagg@wildapricot.org with any questions or inquiries.
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