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!

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 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.

Why genetics?

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.

What does your typical day entail?

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.

What’s your favorite part of being a Genetics PA?

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!

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 1/5: Meet Jina Stephen, PA-C

Why genetics?

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.

What does your typical day entail?

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!!

SPAGG members Wesley G. Patterson, PA-C (left) and Laura D. Gardner, PA-C (right) attended the Southeastern Regional Genetics Group Meeting from Wednesday, July 18 to Saturday, July 20 in Asheville, North Carolina.  Patterson presented a poster about PAs practicing in genetics.

In April 2019, the Greenwood Genetic Center (GGC) welcomed its second PA in the Greenville office, Laura Gardner, MSPAS, PA-C.  Gardner, who is a member of SPAGG, is in the Metabolic Advanced Practice Provider (MAPP) Fellowship, funded by Sanofi Genzyme. 

The MAPP Fellowship is a 24 month training program designed to prepare a PA or nurse practitioner in the diagnosis and medical management of individuals with lysosomal storage disorders (LSDs).  LSDs are a group of about 50 rare disorders characterized by the accumulation of waste products in the lysosomes of the cells in the body.  When asked about the MAPP Fellowship, Gardner responded, “I am thrilled to have been selected to be a part of such a unique and exciting opportunity. Getting to work in the field of genetics, specifically with patients with such rare disorders, is a true honor, and I am grateful to Sanofi Genzyme and the GGC in facilitating my training.”  Gardner is being mentored by Dr. Curtis Rogers in GGC’s Greenville office, where the majority of LSD patients are followed.  Gardner notes that she is “looking forward to the future of this field, the future of rare diseases, and the future of PAs in genetics.”

The GGC’s Division of Education has also received an $82,000 grant from Sanofi Genzyme to expand PA education in genetics, especially as it relates to LSDs.  With this grant, the GGC is leading efforts to provide lectures for PA students and create reference material specifically for PAs.  The LSD Fact Sheets created through the Sanofi Genzyme grant can be found here on our website.  The GGC is also working on developing materials for the website of the American Academy of Physician Assistants where there are currently no genetics resources.

More information can be found on page 7 of the GGC’s Summer News Letter.

Ninety percent of PA respondents report a disconnect between their official title (physician assistant) and their role in healthcare, according to new research presented today to the House of Delegates (HOD) of the American Academy of PAs (AAPA) by WPP, the agency selected to lead the independent Title Change Investigation. Overall research findings strongly suggest that exploration of an alternative professional title for PAs should be pursued.  For more information, please click here for the full article by the AAPA.

SPAGG Treasurer, Wesley Patterson PA-C, is attending the American College of Medical Genetics and Genomics Meeting in Seattle, WA.  He wanted to share that his supervising physician, mentor, and SPAGG enthusiast, Dr. Roger Stevenson, received the David L. Rimoin Lifetime Achievement Award!  This is the highest honor that the ACMG bestows.  When asked about Dr. Stevenson, Wesley said, "It is a true honor and pleasure to work with a world class geneticist and human being.  He is an inspiration and is the gold standard that all genetic providers should strive to be."  For more details, please click here.

Pictured: Dr. Roger Stevenson (right) and SPAGG Treasurer, Wesley Patterson PA-C (left)