Training Genetic Counseling Students in Clinical Research

As a partner with the University of South Carolina School of Medicine’s Genetic Counseling Program,
it’s a common sight to find one of their trainees present in a GGC clinic. Early in the program, they observe clinical visits, and as they progress
in their training, so does their participation in patient encounters, under the watchful eye of one of GGC’s board-certified genetic counselors.

While direct patient counseling is the most common area of practice for genetic counselors, many are also involved in less traditional areas such as laboratory
counseling, industry, or clinical trials.

GGC’s Jennifer Stallworth, MS, CGC, spent many years in a more traditional role as
a prenatal genetic counselor in GGC’s Greenville office. However, in recent years her area of interest has shifted to treatment and clinical research.
Stallworth now coordinates treatments for patients with lysosomal storage disorders and counsels patients involved in clinical trials and specialty
clinics for conditions such as Rett syndrome and Fragile X syndrome.

With the rapid advances in technology and research into potential treatments for genetic disorders, there are more disorders than ever with approved therapies
or open clinical trials.

“Genetic counselors are increasingly involved in helping their patients through the process of clinical trial participation, but this area of clinical
research has not been a focus within most genetic counseling training programs,” said Stallworth. “With the complexities of clinical trial participation
and case coordination required for these therapies and trials, the skill set of genetic counselors can be very beneficial.”
 
To help ease that training gap, Stallworth came up with the idea to develop a mini-rotation for genetic counseling students that focuses on treatment and clinical research. She received funding from Sanofi Genzyme, a biotechnology company involved in developing therapies
for rare diseases, to support this experience aimed at second-year genetic counseling students from programs across the US. The first class met in
October, and within about two weeks of the announcement, all available slots were filled.
 
Stallworth’s two-week rotation is completely virtual. Students are exposed to the grant process and are able to observe GGC case conferences and treatment
meetings. Each student selects a current treatment or clinical trial and completes an independent study of the development and utility of the therapy.
They also achieve certification in Human Subject Research and Good Clinical Practice which cover best practices and ethical considerations in medical
research.
 
“I appreciated the ability to do research on a clinical trial of my choosing as a way to understand the clinical trial process, informed consent, risks,
benefits, and psychosocial aspects,” said Emily Martin, a genetic counseling student at the University of Texas – Houston who was in the first class
in October. “I also learned about a less traditional role for genetic counselors that still involves clinical care, but in the context of research.”

 

Photo: The first mini rotation class discusses clinical trials on a Zoom call with supervisor, Jennifer Stallworth. Clockwise from top left: Molly Marra
– Boise State University, Stallworth, Enrique Lopez – Rutgers University, and Emily Martin – University of Texas – Houston

 

 

Recognizing Syndromes in Diverse Populations

GGC Clinicians Support Syndrome Diversity Efforts

Clinicians rely on characteristic facial features and other physical traits to help them make an accurate clinical diagnosis as well as to determine which
genetic tests provide the best chance of achieving a quick and accurate answer. Published papers describing various genetic disorders are a useful
tool in assisting clinicians with recognizing these characteristic features.

Historically, most textbooks, case reports, and other journal articles that describe genetic disorders have primarily published images and descriptions
of patients of Northern European descent as the standard. In recent years, these images have also been used to train syndromic facial recognition software
programs that assist clinicians with syndrome identification using artificial intelligence technology.
 
In 2016, geneticists at the National Institutes of Health (NIH) shared their concern over the lack of diversity seen in these resources and expressed concern
that this bias in syndrome recognition may lead to delays in diagnosis for patients of other ethnic and racial groups and precious time lost in managing
associated health and developmental issues.
 
Over the past three years, several GGC clinicians including EJ Prijoles, MD, Assistant Clinical Geneticist
in GGC’s Columbia office and Roger Stevenson, MD, GGC Senior Clinical Geneticist and Ravenel
Curry Endowed Chair in Genetic Therapeutics, have contributed to an international effort led by Max Muenke, MD and Paul Kruszka, MD of the NIH, to
better delineate the features of genetic disorders in diverse populations.
 
The NIH has developed a free web-based reference tool ‘The Atlas of Human Malformation Syndromes in Diverse Populations,’ which serves as a resource for clinicians worldwide. Clinicians are invited, with patient consent, to upload clinical descriptions and photographs
of individuals with various genetic disorders from diverse populations around the world.
 
“A systematic collection of genetic disorders showing individuals with different ethnicities and backgrounds is extremely valuable in our expanding world,”
said Prijoles (pictured above). “By understanding the different presentations of genetic disorders among populations around the world, as well as the
within our own diverse communities here at home, we will be better able to serve our patients.”
 
The group’s first paper, focusing on Down syndrome, was published in 2017 in the American Journal
of Medical Genetics, and since then the clinical features for six other conditions, Turner syndrome,
Cornelia de Lange syndrome, Williams-Beuren syndrome,
Noonan syndrome, Rubinstein-Taybi syndrome,
and 22q11.2 deletion syndrome, across a variety of ethnic backgrounds have been analyzed and
shared. 
 
“The clinical geneticists and counselors at GGC are proud to participate in this ongoing initiative,” said Stevenson. “We are so appreciative to our patient
families who have allowed us to share photos and clinical descriptions thereby advancing knowledge of genetic syndromes across all populations.”

 

Telehealth at GGC - From to Convenient to Crucial

Happy Telehealth Awareness Week 2020!
#TAW2020

The third week of October each year is celebrated as Telehealth Awareness Week by the South Carolina Telehealth Alliance (SCTA) and its partner organizations. The purpose of Telehealth Awareness Week is to highlight and promote the many ways that telehealth is being used for
medical consultations across multiple healthcare specialties within our state. From school-based health centers to emergency stroke services aboard
ambulances, to genetics consultations – South Carolina’s residents and providers are benefitting from telehealth services every day! 

Telehealth at the Greenwood Genetic Center

GGC launched its telehealth initiative in 2016, which began in the Center’s Florence office. GGC initially received assistance and support from the SCTA
to establish our telehealth program, which was featured in a video produced by SCETV.
Over the past four years, the telehealth program has adapted, evolved, and improved to meet the needs of our families and providers. GGC providers
have now seen over 2,500 patients via telehealth, and our appointment numbers continue to grow! To read more about the GGC telegenetics program, it
was initially featured in a blog post in 2017,
and additional details about our current program can be found on the GGC telehealth webpage.

Telehealth during COVID-19

Many GGC providers already had some experience seeing patients through telehealth when COVID19 emerged as a major public health threat earlier this year.
A system to triage referrals, schedule patients, and conduct appointments via telehealth was already well-established. Therefore, GGC was in a better
position than many medical offices to adapt to primarily seeing patients via telehealth appointments or “virtual visits” through all of our offices
starting in late March 2020, when recommendations to avoid the spread of COVID-19 included avoiding in-person appointments whenever possible and having
more employees work from home.
 
While GGC’s telehealth program was already flourishing prior
to COVID-19, significant updates and adjustments were quickly needed to expand telehealth services to all of our offices, providers, and patients.
It has truly taken a team effort from all GGC departments and employees to expand the program in response to the COVID19 pandemic. The GGC administrative,
IT, billing, clinical, laboratory, and education departments have all undergone rapid transformations in order to provide virtual visits, collect testing
samples from patient homes, run laboratory testing, and meet the educational needs of our communities. GGC remains committed to providing the highest
quality healthcare services to all patients and their families, and we continued to adapt and improve based on the needs and feedback of our families. 

Is telehealth as effective as in-person visits – or maybe better? How can we tell?

To attempt to answer this question, GGC participates in research projects that collect data about telehealth within the genetics specialty, or telegenetics.
This research aims to track how many patients are seen through telehealth, determine patient/family satisfaction with telehealth visits, and explore
other outcomes that can assist with creating, implementing, and promoting effective telehealth programs.
 
When the telehealth program at GGC first began, patient satisfaction surveys revealed that most families were very satisfied with their appointment and
would choose to do a telehealth appointment again in the future! The data from this initial study were analyzed by a PhD student at Clemson University
and an article is currently under review for publication in a telehealth-based medical journal.
 
Another ongoing project by a genetic counseling student at the University of South Carolina School of Medicine is investigating many factors related to
the GGC and patient telehealth experience. This project is exploring the differences between rates of testing and diagnosis for patients seen in-person
versus virtual visits, comparing missed appointment rates between the two types of appointments, examining billing/insurance issues, and looking at
geographic data related to travel time for an appointment. The results of this project will be available in the spring of 2021, and will likely be
submitted to a medical journal for publication to serve as a resource for other organizations who use – or hope to use – telehealth for genetics consultations.
 
Several GGC telehealth providers participate in regional and national telemedicine workgroups, including the Southeastern Regional Genetics Network (SERN),
National Society of Genetic Counselors Health IT Special Interest Group, and the National Coordinating Center. GGC faculty have also presented our
experiences with telehealth at state, regional, and national meetings including the South Carolina Telehealth Summit, SERN/Southeast Regional Genetics
Group, and the American College of Medical Genetics. By participating in telehealth-focused workgroups with other organizations and publishing research
about our program, we are able to share our experiences and successes, while learning about new ways to improve and expand GGC’s telehealth program
for the benefit of the patients we serve.

For more information about Telehealth Awareness Week and the SCTA, check out their website and follow their 
Facebook page.

Blog post by Katy Drazba, MS, CGC, a genetic counselor in GGC’s Columbia office and a telehealth pioneer at GGC who is an invaluable resource to both her patients and her colleagues. Katy is pictured above in her home office where she counsels patients during COVID-19.

Also pictured – Camerun Washington, MS, CGC, of GGCs Greenville office uses visual aids on his computer to counsel patients via telehealth

Answers for Emily

GGC’s clinicians and researchers team up with international collaborators
to find a long-awaited answer for Emily and her family…

Like most girls her age, Emily Powell, 4, adores her big brother, loves Minnie Mouse, and lights up at the sound of her favorite songs. But Emily is
not a typical 4-year-old. She was born with microcephaly, a condition in which a baby’s head size is smaller than normal.

“We found out about
Emily’s microcephaly from an ultrasound when I was around 28 weeks pregnant,” said her mother, Jaime Powell.

Other symptoms related to congenital microcephaly vary but often include neurological issues, developmental delays, and/or intellectual disability. Causes
can include genetic conditions or exposure to certain viruses or toxins during pregnancy.  

Jaime underwent multiple tests before Emily’s birth to identify a potential cause for Emily’s microcephaly. “All of the tests came back negative, and everything
else looked healthy and typical for a baby at her gestational age. We were told to wait and see.”
 
Emily was born at full term and within a few hours began having seizures. More testing in the NICU failed to reveal a cause. 

Emily
was referred to the Greenwood Genetic Center when she was four months of age, and more genetic testing was initiated. “At the time, we and all her
clinicians were at a loss for the cause of her microcephaly,” said Emily’s father, Dr. Matt Powell. “The team at GGC was upfront with us about the
fact that it would be a stepwise, lengthy process to run the complicated genetics tests.”

After several more genetic tests came up empty, Emily’s geneticist suggested whole exome sequencing which identified a novel variant in a gene known as LMNB1.
This gene encodes lamin B1, a protein that makes up the nuclear envelope, a membrane that surrounds the nucleus of the cell and helps the nucleus maintain
its shape. This variant had not been reported before and other changes in this gene were only known to cause leukodystrophy, an adult-onset neurological
disorder, not congenital microcephaly.
 
“We weren’t sure that this explained Emily’s condition, but as we learned more about this gene’s function, we became hopeful that we may have found an
answer,” shared GGC’s Hannah Moore, MS, CGC, the Powell family’s genetic counselor. Moore
and clinical geneticist, Dr. Steve Skinner, shared Emily’s case with GGC’s research team with
the hope that they could determine the significance of her specific genetic change.
 
Rich Steet, PhD, GGC’s Director of Research, helps oversee the Center’s functional studies initiative
which aims to apply advanced research methods to determine if a newly identified genetic variant, like Emily’s, is actually disease-causing. Steet’s
team reached out to other geneticists and were able to find six other patients from Belgium, Italy, and Spain who also had microcephaly, along with
other symptoms, and had novel variants within this same gene.
 
GGC research technologist, Tonya Moss, led the laboratory efforts by introducing genetic variants from each of these patients into HeLa cells and observing
their effects.
 
The results were clear – when these LMNB1 variants were introduced into the cells, there were obvious abnormalities in the structure and function
of the nuclear envelope. The findings were published in the American Journal of Human Genetics in October.

“We
were pleased to be able to uncover a new genetic cause for congenital microcephaly and share our findings so that in the future, other families will be able to reach this diagnosis much more quickly,” said Steet. “Our work is not
only providing an answer to families like the Powells, but it is giving them hope – hope that this breakthrough may lead to more discoveries and eventually
a therapy.” 

“Knowing the cause of Emily’s microcephaly has allowed us to understand her condition better, and we were also relieved to discover that this mutation
was not inherited,” said Matt. “By confirming this mutation as the cause for Emily’s condition, we can grow our family without the worry of passing
these challenges on to another child.”
 
The Powells have also used their situation to become a resource for other families. Jaime noted that their experience with countless hospitalizations have
helped them be better able to navigate the healthcare system and provide advice for others who must advocate to get what their children need.
 
Matt shared, “We do hope that our participation in this research will raise awareness for this condition, and maybe even inspire more research into a way
to supplement the protein for those with the mutation and possibly improve manifestations of the disease.”

 

Special Siblings - You Matter, Too!

Courtney Camarillo, a rising senior at Florida State University, spent the summer of 2020 as a genetic counseling intern at the Greenwood Genetic Center-Greenville.

Courtney has developed a video and worksheet for Special Siblings. You can access both at the bottom of this page…

My Journey to GGC

I
have a special connection to the Greenwood Genetic Center (GGC) – my sister, Lizzy, has Phelan McDermid Syndrome (PMS) – a rare chromosome disorder
first characterized at GGC in the early 1990s. Employees of GGC including, Dr. Curtis Rogers, MD,
and cytogeneticist Dr. Katy Phelan were instrumental in the development of the Phelan McDermid Syndrome Foundation. The Greenwood Genetic Center continues
to provide support through clinical services and research for patients with Phelan McDermid Syndrome. My involvement with the Phelan McDermid Syndrome Foundation,
in addition to my interest in genetics, made my opportunity to intern at GGC feel surreal. I was allowed to work alongside healthcare professionals
whose efforts have positively impacted thousands of lives, including my own.

As a younger sibling, I’ve felt the impact of having a sibling with special needs for my entire life. Like many special siblings, I have a complex relationship
with Lizzy. It was always a challenge to discussing Lizzy with my peers. I had heard of a chromosome and I knew it was the reason why Lizzy was different,
but I had trouble communicating it. I was intimidated by the complexity of genetics, but I have always aspired to make a positive impact on Lizzy’s
life and the lives of others who face similar challenges. I underestimated my ability to understand the genetic aspect so I focused on what I could
do to support the people around me.

My sibling advocacy career began in 2010 when I created ‘Courtney’s Clubhouse’- a safe space for PMS siblings to connect at Phelan McDermid Syndrome Foundation
conferences. ‘Courtney’s Clubhouse’ was intended to be a space for me; I wanted to make friends with the other siblings. I realized that we needed
a space where we could form relationships and have fun together as individuals rather than just PMS siblings.

Creating “Special Siblings, You Matter Too”

Through my personal experiences and observation of other siblings, I realized the significance of special siblings inspiring me to continue making resources
for people like me. My internship at GGC inspired me to think of ways to provide better support for patients and their families.

Through my shadowing experiences at GGC, I utilized my experience as a special sibling to relate to the complex emotional journeys our patients have experienced.

During my time at GGC I had lots of moments of reflection; both from my perspective as a future health care worker and as a special sibling. I wanted to
create an accessible resource for siblings- something that could validate their experience. Most of the resources I found for siblings were helpful,
however, I couldn’t find anything that was validating or offered support for the emotional experience of a special sibling. To accomplish this, I did
some research and combined my experiences with larger discussions about being a special sibling, in scientific journals and on internet platforms.

I identified three important areas for special siblings to keep in mind:

  1.  The importance of celebrating yourself
  2.  Acknowledging your negative emotions
  3.  How to ask for help when you need it

The Importance of Celebrating Yourself

It sounds cheesy, but as a sibling of someone with special needs, you have to take time to celebrate yourself as an individual. Having a loved one with
special needs can feel overwhelming- but it doesn’t have to be. Having Lizzy as my sister has given me a unique outlook on life, but I have to remind
myself that I’m Courtney, not just “Lizzy’s sister”. It’s important for siblings to remember that they owe themselves the same level of encouragement,
kindness, and attention that they would give others.

In my efforts to celebrate myself, it was vital to have my own hobbies and to spend time with my family members both with and without Lizzy. It’s important
to spend time with your sibling to strengthen your bond; it’s just as important to spend time alone to strengthen your bond with yourself and with
your parents to strengthen your relationship with them.

Acknowledging Negative Emotions

I think that being a special sibling has helped me become more empathetic, understanding, and reflective. I recognize that being a special sibling can
be incredibly rewarding, however, it’s important to acknowledge the struggles of having a sibling with special needs. It’s uncomfortable to talk about
your negative emotions especially when they might be directed towards your special sibling.

I remember feeling guilty for having negative emotions about Lizzy. I knew that it wasn’t Lizzy’s fault that she was different, so I felt incredibly guilty
for having or expressing negative emotions about her or her behaviors. I believe it’s essential for special siblings to view their brother or sister
as an individual, rather than their diagnoses- A lot of my guilt was alleviated when I reminded myself that Lizzy is my sister and sisters can be annoyed,
frustrated, worried, or embarrassed by each other sometimes.

How to Ask for Help When You Need It

At times, being a special sibling can be an emotional rollercoaster, making it important to know how and when to ask for help. I remember being confused
about how to ask for help when I was younger, and it can be really scary to allow yourself to be vulnerable to someone else. I always wanted to be
strong and tough and not voice my struggles or be difficult.

As I got older, I realized how crucial it was to have a safe space to discuss my feelings, both positive and negative. I found it incredibly helpful to
identify someone I trusted, tell them what I needed support with, and ask them to help me make a plan of how to cope with these thoughts and feelings
in the future. I encourage other special siblings to seek out support from someone they trust. It feels really scary when you first ask for help, but
it’s important to remember that the people who love and care about you will want to offer you support when you need it.

I hope this video can provide some validation and support for other special siblings. Having a sibling with special needs can be complicated as it is simultaneously
rewarding and challenging. As special siblings, we must appreciate and acknowledge our thoughts, feelings, and ideas because we are just as important
as anyone else.


Special Siblings – You Matter, Too Resources:


 

 

Summer Internship Fueling More than Career Plans

Kavi Gandhi, a rising high school senior from Pennsylvania, has spent the summer of 2020 as an intern in Dr. Rich Steet’s laboratory at the Greenwood Genetic Center (GGC).

This summer, however, has been about more than a cool summer job or exploring careers in science. For Kavi, it means much more…


Kavi’s older brother, Yash, was diagnosed with Mucolipidosis II, also known as I-Cell disease at 11 months of age. Yash succumbed to this ultra-rare
disease which causes skeletal and heart issues as well as frequent respiratory infections, shortly before his 9th birthday. Yash’s parents, Ash and
Sonal, and his brother, Kavi, have kept Yash’s legacy alive with the creation of the Yash Gandhi Foundation which raises funds for ML II research at centers like GGC.

Below Kavi shares more about his drive and passion for science, specifically genetic research like that being done at GGC.

What is your role in the Yash Gandhi Foundation (YGF)?

Formally, my title with YGF is Development & Communications Coordinator, but I direct most of the Foundation’s operations (with the exception of taxes
and a few other tasks, which my parents help out with). My work includes planning our annual 5K fundraiser, managing our social media platforms (including
a rehaul of our Foundation website a few years back), soliciting donations and grants from individuals/corporations/organizations, maintaining contact
with donors and sponsors, and working to connect various members of the I-Cell community and providing opportunities for those affected by I-Cell to
share their stories and experiences.

Why did you choose to spend your summer working at GGC?

Over the past four years of my schooling, I have developed a passion for biology and hands-on scientific research. About a year ago, my mom asked me what
my dream job would be. My response was…

“Assuming that a cure/treatment hasn’t been discovered for I-Cell, my dream job is to work as an I-Cell researcher while also being the Executive Director of the Yash Gandhi Foundation to continue raising funds to support that research.”

I had recently come to the realization that my work with the Foundation and the work that we were supporting fell perfectly at the intersection of my passions/interests
in biology and business, so this career just felt perfect. From there, my mom took matters into her own hands and reached out to Dr. Steet to inquire
about me interning in his lab at GGC for the summer. When this opportunity came into fruition, I couldn’t think of a better way to take my work with
the Foundation to the next level and expand it to include my academic/career interests.

 

What have you learned from your experience at GGC?

Throughout my time at GGC, I have learned an incredible amount
about the molecular bases of ML II, the way the disease progresses in the body, and the discoveries that have been made to further understand the complexities
of the condition.

It has been fascinating to read through research papers (particularly those that describe some of the preliminary ground-breaking discoveries from Dr.
Stuart Kornfeld in the 80s) and to see how research has advanced in a very modular way to provide a more complete picture of this condition.

Being in the lab and learning about the various techniques that are used to conduct this research, both in cells and the zebrafish model, has also been
illuminating. Another piece that I think is invaluable is learning what it actually means to be a genetic researcher or a lab technician, and what
those jobs encompass on a day-to-day basis.

 

What are your plans after high school? 

I’ll graduate from high school in 2021. Right now, I am in the thick of my college search and application process. I am looking mainly at smaller liberal
arts schools on the East Coast and I am hoping to study both biology and business.

 

What has it meant to you to be able to work on research that is so personal to you and your family?

Over the past years, myself and other members of the I-Cell community have worked tirelessly to raise funds to support work like that being done at GGC.
I always knew that the support our Foundation gave to researchers like Dr. Steet was important and powerful, but I had no concrete picture of what
that meant. Getting to spend time in the GGC labs and witnessing with my own eyes the important and revolutionary work that is being done has been
indescribably gratifying. Seeing how the work I have put into fundraising manifests itself at GGC and knowing that I played a small part in the advances
that are being made as we speak makes me very proud.

 

 

Chase The Signs

Supporting MPS Awareness Day

Today, May 15, is MPS Awareness Day. 

 
GGC has a special interest in MPS disorders, so we wanted to highlight this group of rare genetic conditions and share how we are involved in supporting
patients and families.
 

What is MPS?

MPS stands for Mucopolysaccharidosis (see why we use the abbreviation)?

MPS disorders are in a class known as lysosomal storage disorders. Lysosomes are organelles that function in each cell as a sort of recycling center. They
take in waste products of the cell, and enzymes within the lysosome break down and ‘repurpose’ those waste products so they can either be excreted
or used in other ways. If a genetic mutation prevents the body from being able to make these important enzymes, the waste products can’t be recycled
or broken down, so they become stored within the lysosome. As they accumulate, they interfere with normal cell processes which in turn cause progressive
tissue and organ damage.
 
There are several types of MPS disorders, categorized based on which enzyme is missing: 

  • MPS I (Hurler; Hurler-Scheie syndrome)
  • MPS II (Hunter syndrome)
  • MPS III (Sanfilippo syndrome, Types A, B, C, D)
  • MPS IV (Morquio syndrome)
  • MPS VI (Maroteaux-Lamy syndrome)
  • MPS VII (Sly syndrome)
  • ML II/III (Mucolipidosis, I-Cell Disease; Pseudo-Hurler Polydystrophy)

How are MPS disorders diagnosed?

As a group, MPS disorders affect approximately 1/25,000 individuals, but as with many rare diseases, that number is likely higher because of under-diagnosis
or misdiagnosis.

The clinical features vary, often making the diagnosis tricky. Some of the common findings for patients with an MPS include coarse facial features, short
stature, skeletal abnormalities, joint problems, and enlargement of the liver and spleen. Some MPS disorders also include vision problems, developmental
delays, and respiratory issues.
 
GGC’s Diagnostic Laboratories provide both screening and diagnostic testing for patients who are suspected
of having an MPS. We are also working with several pharmaceutical companies to help improve early diagnosis, as well as to support clinical trials
by monitoring how well patients are responding to the experimental treatments. 

Can they be treated?

Through enzyme replacement therapy (ERT), patients with some types of MPS can be treated with the very enzyme that is missing from their bodies.

GGC’s currently manages the care for 42 patients with MPS or other lysosomal storage disorders who are receiving ERT. ERT is not a cure, but can dramatically
improve the quality of life for patients and families.

What research is going on at GGC?

GGC’s Research Division has several projects underway to better identify the disease mechanism
for MPS disorders. GGC’s zebrafish are also in on the action as we have developed fish disease models for ML.
 
A recent grant from the National MPS Society is funding work
for GGC to better understand the significance of genetic variants in the genes that cause MPS. As many states, including SC, begin to screen all
newborns for some MPS disorders, it will be important to be able to interpret the genetic variations that are found – are they disease-causing
or not? 

#ChaseTheSigns – Improving diagnosis and understanding

GGC’s
Dr. Sara Cathey is internationally respected as one of the leaders in the clinical study
of MLII/III and is the principal investigator on a natural history study to better understand the clinical features and how the condition progresses.
 
Since early diagnosis is critical, GGC’s Division of Education is involved in educating clinical providers on how to spot MPS disorders as early as
possible. GGC, in partnership with Sanofi, has developed educational tools for advanced practice providers to help them identify and diagnose these
patients. GGC’s Metabolic Advanced Practice Provider fellowship began last year, and our trainee,
Laura Gardner, MSPAS, PA-C is working
closely with individuals with MPS and other metabolic disorders.
 
 
With GGC’s work with MPS and related disorders, we’ve become very close to the patients and families we serve through these initiatives. Many of our
faculty work with organizations including the
National MPS Society,

ISMRD, and CureSanfilippo Foundation to help advance the science and provide support for families around the world!
 
So now you know a little about MPS.
 
By raising awareness, we are moving one step closer to early diagnosis and effective treatments for all impacted by these disorders. 

 

Genetic Counselors Support Families in Many Ways

November 14th is Genetic Counselor Awareness Day!

The American Board of Genetic Counseling recently reported that there are now 5,000 certified genetic counselors – a big milestone for a growing profession!

The Greenwood Genetic Center employs 13 of these healthcare professionals across its statewide network of offices.

But, who are they and why is their role so important?

Genetic counselors are healthcare providers who function as a vital part of the care team for patients with genetic disorders. Genetic counselors have
earned a Master’s degree in genetic counseling where they are educated in the science of clinical genetics, as well as receive training in the areas
of counseling, family support, and communication skills.

Genetic counselors are certified through an examination by the American Board of Genetic Counseling. Certification must be renewed every five years through
continuing education. Licensure for genetic counselors is available in some states. South Carolina currently has a genetic counseling licensure bill
in the state legislature.

In their traditional clinical roles, genetic counselors provide education and support and serve as an important resource for families who are often facing very challenging situations. 

“Genetic counselors are integral to quality patient care at GGC, communicating vital information to families,” said Mike Lyons, MD,
Director of Clinical Services. “They are skilled at a wide range of activities such as gathering and reviewing complex medical histories, generating
and discussing detailed family pedigrees, conveying difficult news with compassion, explaining complicated test results, sharing useful resources,
and providing ongoing support for patients and families.”
 
“As a genetic counselor, my role is to work to understand the science and then use that knowledge to help our patients apply available genetic testing
and treatments to their specific needs,” shared Jennifer Stallworth, MS, CGC, a
genetic counselor in GGC’s Greenville office. “For patients with rare diseases, finding a medical provider who has even heard of their condition is
very valuable, and it is even better when we can offer specific support resources and information that is useful to their family.”
 
“Genetic counselors are well-trained in medical genetics, communication, providing education, counseling, and helping families get connected to the medical
services and social supports that they need,” said Katy Drazba, MS, CGC of GGC’s Columbia
office. “I use some, if not all, of these skills with each patient and family that I work with. I truly enjoy the team-based approach at GGC to provide
high-quality care for our patients and their families.”

As the field has grown, so have the opportunities for genetic counselors to use their skills in other areas of genetics. 

Drazba noted that she has expanded her clinical role as part of GGC’s telegenetics program, “While I did not have specific training for telemedicine while
in school, I have learned to adapt to and utilize new technologies to help improve and expand our telemedicine program. I have to maintain the comprehensiveness
of genetic counseling through our telemedicine appointments, but also do my best to make them engaging for families.”
 
Robin Fletcher, MS, CGC is a laboratory genetic counselor in GGC’s Diagnostic Laboratories.
 
“After 15 years as a clinical genetic counselor and seven years in education, I turned my focus to laboratory technologies,” said Fletcher. “I serve as
a liaison between the GGC Diagnostic Laboratories and our network of referring physicians, genetic counselors and other healthcare providers, making
sure their patients are receiving the best testing options that we have to offer.”
 
Stallworth has transitioned from a prenatal genetic counselor into the field of research and clinical trials. “I enjoy being involved in clinical trials
because genetic knowledge and options for treatment of genetic disorders are continually advancing. I am learning something new every day.”

 

Learn more about this career or find a genetic counselor here.

 

PAth to Better PAtient Care

As the understanding of genetics permeates nearly every medical specialty, the need for clinical genetics services for patients is booming – often faster
than the current genetics clinics can handle. In addition, more clinical geneticists are retiring than are being trained, leading to a critical shortage
of providers, long wait times for patients and an overburdened workforce.

In order to alleviate this shortage of genetics providers, GGC and other genetics organizations have enlisted the help of advanced practice providers such
as Physician Assistants (PAs).

GGC now has two PAs on our faculty, Wesley Patterson, MSPA, PA-C, and Laura Gardner, MSPAS, PA-C.

PAs – I’ve heard of those, but what exactly do they do?

The PA profession was established at Duke University in 1967 with the purpose of increasing patient access to care while helping alleviate the nationwide shortage of physicians.

PAs work in every medical specialty and setting. They obtain medical histories, perform physical exams, diagnosis illness, develop and manage treatment
plans, prescribe medications, order and interpret labs and imaging, perform procedures, assist in surgery, perform research, and often serve as the
patient’s primary care provider (PCP). PAs work in collaboration with physicians, genetic counselors, dietitians, and other members of the healthcare
team as well as autonomously.

There are currently over 131,000 certified PAs practicing in every state, the District of Columbia, Guam, Puerto Rico, and the Virgin Islands.

What does PA training involve?

PAs are medical providers trained in the medical model as generalists. Most PA programs are 27 months in length with 15 months of didactic lecture and
12 months of clinical rotations totaling over 2000 clinical hours. The didactic time includes courses in clinical medicine, clinical skills, pharmacology,
pathophysiology, behavioral medicine, anatomy/physiology, interprofessionalism, problem-based learning, evidence-based learning, and medical ethics.
The clinical rotations include rotations in primary care, internal medicine, pediatrics, women’s health/OBGYN, emergency medicine, surgery, orthopedics,
and psychiatry. Upon completion of an accredited PA program, PAs graduate with a master’s degree but few programs offer combined degrees such as PA
and PharmD or PA and Master of Public Health. A doctorate is not required to practice medicine but there are doctorate programs available.

PAs are required to pass the Physician Assistant National Certifying Exam (PANCE) in order to obtain a license. To maintain their certification, PAs must
complete 100 hours of continuing medical education every two years and take the Physician Assistant National Recertifying Exam (PANRE) every 10 years.
Post-graduate PA residency and fellowship programs exist but are not required to practice. An additional certificate known as a Certificate of Added
Qualification (CAQ) is available for some specialties.

How are PAs involved in genetics?

In genetics, PAs can obtain medical and family histories, perform physical exams, order genetic testing, interpret genetic testing results, follow-up with
patients and families regarding these results, and work collaboratively with geneticists, genetic counselors, and dieticians as needed.

Patterson was GGC’s first PA, joining the clinical team in 2018. He worked in GGC’s Molecular Diagnostic Laboratory from 2010-12, but felt the calling
into clinical medicine and went back to school to earn his PA Masters degree from Jefferson College of Health Sciences.

“Genetics is such a unique and gratifying field,” said Patterson. “Being able to work with and advocate for your patients is truly rewarding. One of my
favorite parts of the field of genetics is that it is continuously changing.”

Patterson helped to found the Society of PAs in Genetics and Genomics (SPAGG) to promote the field of genetics
and serve as a resource for PAs in this specialty. He also serves as its treasurer and webmaster. “There are many new technologies available and more
being created to help diagnose and treat our patients. This is a unique and amazing time to be in genetics.”

Gardner joined GGC’s Greenville office in 2019 as a clinical PA and trainee in GGC’s Metabolic Advanced Practice Provider Fellowship Program. She is a
graduate of the PA program at Elon University.

“I am thrilled to have been selected to be a part of such a unique and exciting field,” said Gardner. “Getting to work in the field of genetics, specifically
with patients with such rare disorders, is a true honor.” 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.”

 

Genetics and Genomics and Epigenetics, Oh My!

Epigenetics – You may have heard this term before, along with other similar words like genetics and genomics.

Are these all really the same thing?

If not, how are they different, and what difference does it really make to patients? 

Genetics is the study of genes – the units of heredity discovered by Gregor Mendel back in the 1840s. As we all learned in middle school
life science, genes determine our traits. (Remember the oversimplified examples of rolling your tongue and eye color?)
 
Genomics (omics means totality) is the study of the genes that code for proteins as well as how those genes function alone and in relationship
with all of the other genes. What is their combined influence on the development and function of the individual? 

Got it? Good!

Now what is this epigenetics, you speak of?

Well, humans have approximately 20,000 genes in each cell of our bodies. These genes, which produce proteins used by the body, make up about 1% of our
DNA.

Wait, 1%? So what’s all that other stuff? That must be the “junk DNA” we’ve read about. Useless and just taking up space?

Well, not exactly…

All of that other DNA does seem to serve a vital purpose, and that’s where epigenetics comes in. Epi- means ‘upon’ or ‘on’, so epigenetics is the study
of the DNA elements and other influences that have an impact upon the genes. These influences regulate how those 20,000 genes are expressed. They turn
genes on, off, up, or down depending upon the cell type, the individual’s stage of development, and the particular need for the protein encoded for
by that gene at that time.
 
Epigenetic influences are chemical alterations that are made to the DNA and can be caused by any number of genetic and environmental factors. Your age,
sleep patterns, diet, and exercise habits can all cause various epigenetic changes to occur which affect gene expression. Other epigenetic modifications
are inherited. 

 

So, how does this impact how we treat patients?

Diagnosing a patient can oftentimes be a tricky proposition. Some disorders have clear features and the clinician can easily determine which genetic test
is the best one. But often there is a tremendous clinical overlap making a specific diagnosis difficult if not downright impossible to obtain. With
GGC’s focus on neurodevelopmental disorders, we often evaluate patients whose features could match with a number of conditions. How do we clear up the mystery?

Well, a recent study by GGC’s Dr. Charles Schwartz, along with colleagues from Canada, has
identified epigenetic signatures that are unique to several neurodevelopmental disorders which share similar clinical features.

The function of the genes that cause these neurodevelopmental disorders is to create proteins that influence the epigenetic machinery of the cell. A mutation
in one of these gene causes a problem with the modifications to other genes, so there is a cascading effect. This is thought to cause many of the features
which may include both developmental and neurological issues, but also other somatic symptoms.

We’re talking about a mutation in a single gene (genetics) that changes the expression of other genes (epigenetics), causing a myriad of symptoms related
to the impact on those other genes, both alone and together (genomics).

Dr. Schwartz’s work, which was published earlier this year in the American Journal of Human Genetics,
wasn’t focused on the mutations within the gene, but was looking at how those mutations impact the regulatory elements and asking ‘Are those changes
unique to each disorder?’

This research identified unique epigenetic signatures for nine different neurodevelopmental disorders – ATRX syndrome, Floating-Harbor syndrome, Sotos
syndrome, ADCA-DN, Claes-Jensen syndrome, Kabuki syndrome, CHARGE syndrome, Genitopatellar syndrome (GTPTS), and Say-Barber-Biesecker-Young-Simpson
syndrome (SBBYSS) – making the diagnosis clearer and helping to determine if variants within the gene are actually disease-causing. (Variants are a
topic for another blog, Oh wait, we did that. Check out this recent post on VOUSs.)
 
Another really interesting finding from this study is the evidence that computer models can accurately predict which of these diseases is present in an
individual based upon the epigenetic signature and can also exclude those who don’t have one of these disorders (healthy individuals or patients with
other conditions.) 

In the team’s most recently published work,
which earned designation as a ‘Reviewer’s Choice Abstract,’ at the 2018 American Society of Human Genetics meeting in San Diego, the epigenetic signatures
for three other conditions, Nicolaides-Baraitser, Coffin-Siris, and 6q25 microdeletion syndromes, were analyzed.  As part of this study, researchers
were able to change the classification of 18 patient variants found by sequencing the genes. (Remember those VOUSs?) Patient sequencing results that
were reported as uncertain (VOUS) or likely pathogenic or benign status were reclassified as clearly benign or pathogenic by analysis of the epigenetic
signature – removing the uncertainty and freeing the clinicians and families to either pursue a different correct diagnosis or move toward potential
treatments. 

The future is upon us. By expanding our study beyond just which gene causes which disease, we can make diagnoses more quickly and efficiently and can begin
to understand how these conditions work – the next step on our journey to treatments and cures. 

 

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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