Imagining a Vision for Genetic Medicine

Over 4 decades of Compassionate Care and State-of-the-Art Technology

Think about the impact of genetics on today’s healthcare. You can hardly go a day without seeing news of a novel gene for a common disease or a clinical trial for a genetic disorder. Now think back to 1974 (or imagine it, if you’re under 35 J). Back then, genetics was little more than a minor medical sub-specialty, diagnosing diseases few had heard of, and with little hope for treatments or cures.

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The Greenwood Genetic Center (GGC) opened its doors in 1974,under the leadership of two visionary co-founders, Roger Stevenson, MD and Hal Taylor, PhD, and with two guiding principles – offer the best most compassionate care and provide state-of-the-art technology. GGC began with support from the South Carolina Department of Disabilities and Special Needs, who in 1974 had the vision that in order to prevent or treat disabilities, they must be understood. They realized, even back then, that genetics was going to provide that understanding.

Now, 43 years later, GGC still operates under those founding principles of compassion and innovation, and we still ardently work to diagnose patients with both ultra-rare and common complex disorders, but what has changed are the dramatic advances in the field of genetics led by our scientists and colleagues around the world.

Hundreds of patients each year are served by our metabolic genetics treatment program, offering proven therapies to treat or prevent serious disabilities and health issues.

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Every single year, seventy babies in South Carolina are born free of birth defects of the brain and spine thanks to GGC’s Birth Defect Prevention Program.

GGC’s commitment to providing hope for families impacted by genetic disorders has led to the creation of the Center for Translational Research, which is leading the way in developing clinical trials.

Researchers at GGC are working to fundamentally transform the diagnosis of autism with the development of a blood-based test and work toward treatment trials.

GGC’s Division of Education provides outreach genetic education to students from middle school through post-graduate training, encouraging students to pursue careers in the sought-after and highly rewarding field of medical genetics.

In 1974, few people would have imagined the fundamental changes in medicine that would occur thanks to the field of genetics. Dr. Stevenson and Dr. Taylor imagined it. The South Carolina Department of Disabilities and Special Needs imagined it. And because of them, two generations have now benefitted from compassionate clinical care, enhanced diagnostic testing, cutting-edge research, and innovative educational programs.

The Gene Scene will share the stories of families, scientists, and innovations that have made these past 43 years so exciting, so rewarding, and so impactful, and are making the future so promising. Welcome to The Gene Scene.

Luigi’s take on TEDx

Personalized Medicine: A New Approach

Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on in hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. He is also characterizing the metabolic profiles of cells from patients with overgrowth, autism, ID, and other neurodevelopmental disorders.

 

Greenwood Mag1 (2)

Dr. Boccuto presented “Personalized Medicine: A New Approach” at TEDx in Greenville, South Carolina to share an inside look at how personalized medicine is offering a new sense of hope to those affected by rare medical conditions.

 

TED stands for Technology, Entertainment and Design. Where does your topic fit into this equation?

My life science-related topic doesn’t fit nicely into any one category, though I believe it complements the TEDx specialties of technology, entertainment and design.

Technology: New approaches in the era of personalized medicine require state-of-the-art technological advancements.

Entertainment: I hope the topic itself was as entertaining for the audience as it was for me to share. One of the main goals of TED is to provide a good time for the people in the audience, regardless of the topic of the talk. It might be hard to translate science into an entertaining talk for such a variegated audience as the one at TEDx, but I did my best and I hope that, with the precious help of my tutor and my coach, the result was enjoyable for everyone.

Design: Providing a solution to complex disorders requires re-designing the traditional approaches.

“If we are dealing with a COMPLEX disorder, why would we expect a SIMPLE solution?”

 

Can you summarize the main point of your TEDx talk?

I used autism as an example of a complex disorder still largely unknown. The more we study autism, the more we realize that detection of gene variants alone is not sufficient to understand what causes this condition. Therefore we developed a novel approach based on a larger field of investigation: we are not looking at the DNA, nor at its products (proteins), but at the whole metabolism. Interactions of multiple proteins are necessary to make our cells survive, proliferate, and attend to their specific tasks. Our aim is to evaluate if cells from individuals with autism “behave” differently from cells from controls. In order to do so, we expose to different compounds and we observe how they react, that is how their metabolism utilizes each compound.     

“Genetic investigations of the causes of autism have been following the <one mutant gene = one disease> model and therefore we have been looking for single changes affecting single pathways, that might cause clearly recognizable differences. […] Unfortunately, so far this approach has not been sufficient to solve the autism riddle yet.”

 

Why do you think your topic was worth sharing?

It’s difficult to know what will look cool in the eyes of others. I hoped the topic would reach the audience directly and indirectly because many people have been affected by autism in one way or another.

Our idea of the impact of genetics on our lives is changing and is leading to new and better strategies in research and, eventually, in the medical practice. The fact that there’s a new approach to medicine is exciting and can relate to many people. I think that is worth sharing.

“With complex disorders we are changing our perspective of the role of genetics in our lives: we are moving from determinism […] to predisposition.”

 

What was your favorite part of the process?

Finishing. There’s such a big machine behind the ted process so after finishing I was able to relax, be a spectator, and enjoy the others performances. After giving my talk and taking a big, relieving breath, it was great to see the other speakers and performers and fully appreciate the process they (and I) went through to get to that stage.

What was the most challenging aspect of the experience?

To find a way for my message to reach everyone, regardless of the diversity in the audience. I really wanted everybody from the audience to bring home something from my talk.

How long have you been working on this research project?

Since I arrived in Greenwood in 2007. I initially worked on autism candidate genes, then metabolic arrays to explore the differences between cells from individuals with autism and controls. Autism has been my main area of study for the ten years I’ve been here.

Are there other responsibilities of your position that has helped prepare you for the TEDx presentation?

Being an educator and mentor for interns interested in scientific research.

 Luigi with international interns

What is the most valuable advice you received from your coach?

To make sure each individual in the audience left with one clear message.

What advice would you give a future candidate if you became a TEDx coach?

Remember that every life and experience is unique and keep that in mind when sharing your ideas with the world. If you think your idea/experience is worth sharing, make sure it’s available in a way everyone can relate to. Get ready to share a part of yourself with the world, not just a talk.

What did you and the other TEDx speakers have in common?

The willingness to share ideas, educate, and bring joy to others.

“The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being.”

 

What is one idea you wanted the audience to take away from your speech?

The role of traditional genetics, especially for complex disorders, is being rethought.

Personalized medicine is the new and exciting approach. It means that in order to go from population to individual the key is to look at the bigger picture.

“To deal with a complex model, we change our approach: we look beyond the single gene, beyond the single protein, beyond the single pathway.”

 

How did your message represent the mission of Greenwood Genetic Center?

In order to give greater care and provide the best service possible, rigorous and precise research is necessary.

We need up-to-date technology to perform better experiences, but we also need the right vision. The design of our project is focused on translating our research from bench to bedside table, so that our community will benefit from more precise and efficient treatments. In simple words, a better approach in the research experiments will lead to the design of a better treatment profile and eventually to provide greater care.

“This massive amount of information (gathered from the new wider perspective) is already changing medicine, calling for a more personalized approach.”

 

If you were to choose one slide from your PowerPoint to share with the world, which would it be and why?

The last slide. It shows how our knowledge of genetics has changed. We have learned to detect not only major deleterious mutations, but also to identify minor variants and assess their impact on our health. Such impact might be small if we consider the variants individually, but if we look at the whole picture and take into account all the variants, their overall impact may still lead to important complex disorder, such as autism.

 

TedX Presentation Image

Our studies brought us to look at neurodevelopment as a lake being filled by many rivers: each river has its own particular characteristics in terms of color of the water, levels of salts, fish population, and so on. The delicate balance of all the characteristics provided by the rivers determine the proper development of our nervous system (green circle in the top left of the picture) and allows us to acquire complex functions such as language, social interaction, or processing of sensorial inputs.

For many years we have been accustomed to consider the effects of a single major gene defect as sufficient to determine the clinical features of a genetic condition. In our model that would be a river going completely dry, or a massive rock blocking or deflecting its course (red circle in the top right of the picture). By looking at a bigger picture, we are now learning that the combined effect of minor changes can still produce a significant disruption of our brain. For example, if the color of one river slightly changes and the fish population in another is halved, the individual effects on the rivers might not look significant, but they can still alter the final balance in the lake. In the same way, minor changes in the complex metabolic pathways determining our neurodevelopment may not look important if investigated individually, but we can assess their true impact only by looking at the ultimate effects that they can generate once combined (grey circle in the bottom of the circle).

“The <one mutant gene = one disease> concept […] has been the seeds of medical genetics, but just like the seed must die to bare much fruit, so we need to go beyond that concept to fully understand the genetic impact, the genetic imprint on our lives.”

 

 

Personalized Medicine: A New Approach

“If we are dealing with a COMPLEX disorder, why would we expect a SIMPLE solution?”

 

 

Luigi Boccuto is originally from Catanzaro, Italy, but has been living in Greenwood, SC for over 10 years. He received his medical degree and post-doc degree in medical genetics at the Catholic University of Sacred Heart in Rome. During his school and training years, he worked on hereditary cancer, overgrowth syndromes and intellectual disability syndromes.

He is currently working as a Research Scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of autism, intellectual disability, and conditions with segmental or generalized overgrowth. Most of his work is focused on characterizing the metabolic profiles of cells from patients with genetic conditions, to detect biomarkers for early screening or diagnosis, discover pathogenic mechanisms underlying such disorders, and identify novel targets for treatment approaches.

He has always wanted to work in genetics and loves his job, particularly the idea that what he does will help children in the present, and even more in the future. In his free time, he likes to play soccer and read. His other passions are photography and traveling.

Dr. Boccuto presented “Personalized Medicine: A New Approach” at TEDx Greenville on April 7, 2017.

Video, image and bio courtesy of TEDx Greenville

“The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being.”

Luigi Boccuto


Want to learn more? Of course you do! Check back next week for an exciting behind-the-scenes look into Luigi’s lab!

From Single Genes to All the Genes: How technological advances are changing patient care

The Diagnostic Odyssey

The diagnostic odyssey is a term used throughout the genetics field to describe the often long, arduous, frustrating, and expensive process that many patients experience along the road to obtaining a correct diagnosis. This can apply to children with numerous and complex medical and developmental challenges as well as to adults facing declining health with no clear reason or explanation. The odyssey can take the form of patients being passed from specialist to specialist, undergoing countless blood draws, and often invasive, unnecessary and expensive medical procedures.

For nearly 40 years, molecular genetic investigation has been based on the analysis of single genes, a process known as Sanger sequencing. Those genes were sequenced in order to read every letter of the DNA code looking for mutations. This method has allowed researchers to identify the genes responsible for numerous genetic conditions. However, this technology requires a great time commitment, the often difficult task of selecting which genes to test, and a high price tag.

The advances in molecular technology are moving labs from analyzing one gene at a time to looking at large panels or even all of the approximately 20,000 genes at once. This testing, called ‘Next generation Sequencing’ or NGS, is providing more information, and often an answer, to patients who may be suspected of having a genetic condition. NGS overcomes most of the hurdles of traditional single-gene testing, and can lead to a finding that finally ends the diagnostic odyssey for many families.

Next Generation Sequencing


What is NGS?

NGS testing can be generalized into three categories:

  1. Targeted Panels

Targeted panels include the sequencing of select genes that share a common condition or phenotype. For example, GGC offers a targeted panel for hearing loss that includes 91 genes. So, for a patient with hearing loss, the entire panel is analyzed at once, removing the guesswork of which gene to do first, second…, and it is often more time and cost effective than Sanger sequencing. These are the most commonly requested tests currently in our lab.

  1. Whole Exome Sequencing (WES)

WES involves the sequencing and interpretation of the coding regions, or exons, of all of the approximately 20,000 genes. These exons, which are part of genes, code for proteins made by the body, but actually only make up about 1% of the human genome (30 million of the 3 billion base pairs). This testing is available clinically.

  1. Whole Genome Sequencing (WGS)

WGS is the sequencing of all of the DNA in the human genome (3 billion base pairs). This testing includes analyzing all sequences, including those that do not code for proteins, but have other functions such as regulating genes. At this time, because of the massive amounts of data generated, and limitations in interpreting what that data really means, most WGS is currently being done on a research basis.

WGS and WES offer what has been referred to as “non-hypothesis driven testing” as these options offer incredible opportunities to “find the genetic needle in the haystack”. They also come with the challenge of detecting significantly more variants. Genetic variation exists among all individuals and a great challenge with NGS is to understand and interpret what these variants mean, if anything, from a clinical perspective.

MiSeq


Where do we go from here?

Most in the field agree that WGS will ultimately become the gold-standard as NGS methods, particularly on the data management side, are continuously improved.

Achieving a molecular diagnosis is no longer a question of “if”, but rather “when”. The field of clinical genetics and the patients we serve have gained immeasurably from the use of NGS.

The most important reason to make a diagnosis reaches beyond the obvious benefit of providing an answer to a family. An accurate and precise diagnosis is the critical first step in the process to manage, treat, and one day cure the disease. Regardless of the age of the patient and their clinical course, all forms of genetic diseases should be considered treatable. For most genetic conditions, this notion is not yet realized, but the process starts with an accurate molecular diagnosis which lays the foundation for future breakthroughs.


 

Life with Autism: Finding the Ones Who “Get It”

Life-with-Autism

Timmy was the “typical” energetic, inquisitive three year old. He could sing nursery rhyme songs word for word. He could speak in complete sentences. And he played constantly with his siblings.  He was a thriving little boy so full of light, life and laughter. But like a flip of a switch everything changed. Most of the words and songs suddenly vanished.  Timmy no longer showed interest in playing with others, even his brothers and sisters. Even going out in public became a nightmare and a tremendous source of stress for Timmy and the entire family. He became very anxious in strange surroundings with loud and unfamiliar noises and overstimulating sights. These extreme experiences ended in fitful meltdowns that were difficult to handle. Where did my little boy go? That was the question in this mother’s heart.

Needless to say, I suspected Timmy’s condition was autism months before Timmy received the diagnosis from a developmental pediatrician in Scottsdale, Arizona. I read everything I could find on the internet as well as publications. In addition, I spoke with local parents with children on the autism spectrum.  With a strong determination, I went into fight mode. However, I also struggled with the grief as well as with disappointment that things may never go back to the way they were.  The dismay that my dreams for my son may never come true was beyond heartbreaking. I wanted my Timmy back. I had lost control and it was devastating.

Timmy was officially diagnosed with Autism Spectrum Disorder when he was four years old. Shortly afterwards, our family moved from Phoenix, AZ to Ninety Six, SC which is my childhood hometown. I enrolled the children into the local school district where Timmy was placed in the K4 special education class. This was the beginning of our journey with autism and the education system.  The challenges that accompany a child with ASD can be so overwhelming in itself. Therefore, when advocating for services through the school is added the stress can become immense. Anxiety, worry, loneliness, depression, disappointment, anger, and yes the reoccurring grief can wash over you at once like relentless waves. At least that was what I was experiencing. Needless to say, Timmy is now 10 years old and he is progressing in his own timing. He has regained some speech, has many friends, and can sing like a bird. He even learned to sing the National Anthem last year and sang it in front of his entire school at Ninety Six Elementary School.

After several years of many ups and downs in my own family’s autism journey, I met an endearing mother with an adult child who is on the autism spectrum.  Chris was a volunteer at the Greenwood County Library where I am currently employed. We became fast friends and began to exchange stories, concerns and even encourage one another about our children with ASD. Our conversations frequently led to the fact that there was an absence of a support group in Greenwood County for parents who have loved ones on the autism spectrum. Knowing the need is tremendous for our families in our county, we stepped out and partnered together to kick off the Greenwood County Autism Support Group in March, 2015.

The focus and vision of the group is to provide a haven of support for parents and other loved ones who live with ASD. Every other month we  provide this platform so  individuals can feel free to share their struggles and concerns but also their successes about their children on the spectrum. It is reassuring to know there are those close by who understand and “get it” when it comes to the unique family dynamics concerning our loved ones. In addition, we also bring in speakers such as therapists, advocates, service providers, special education teachers, etc.  on alternate months who share their wealth of knowledge and resources to help guide, direct and encourage family members. Our meetings take place every fourth Thursday of the month at the Greenwood County Library at 6:30 p.m. We also have a Facebook page, Greenwood County Autism Support Group, available for individuals to join to stay informed about upcoming speakers and meetings. In addition, we have child care provided by staff from the Greenwood Genetic Center and Project Hope.

In closing, I personally as a parent have finally come to terms with my child and the reality that he has autism. He is still the same little boy I gave birth to 10 years ago and I have the privilege of watching him become and be all that he is meant to be. We will always have struggles and challenges. However, the joys and successes will always out number them all. It is a true honor to be a parent of such a special young man. And I am equally grateful I have found my circle of those individuals who truly “get it”.

Life-with-autism

By Angela Cogburn

 

 

 

 

 

 

 

 

 

TELE-WHO, TELE-WHAT: The wave of Telehealth at Greenwood Genetic Center

Satisfied!! Satisfied!!

The words uttered from the voices of the patients that we serve at the Greenwood Genetic Center.

With the implementation of Greenwood Genetic Center Telehealth Initiative, we are hearing these words more often. It is the mission of the Greenwood Genetic Center to be a Center of Excellence in Medical Genetics serving as a resource for all persons who need genetic services or information and working to reduce the prevalence and impact of genetic disorders. Living up to the mission, Greenwood Genetic Center launched the telehealth initiative in November 2016. The telehealth initiative is a resource that geneticists can use to provide access to genetic services to families across South Carolina.

 

Telehealth-Greenwood-Genetic-Center

 

At the Greenwood Genetic Center, genetic services that are offered are consultations, examinations, screening, and laboratory testing for genetic conditions. Telehealth provides real time video interactions between the patient and doctor. Many in the healthcare field are yielding to the telehealth approach due to limited professionals in the field of genetics. Many believe that telehealth is an essential tool in delivering healthcare services in the future. Telehealth benefits everyone in meeting the healthcare needs of patients.

How does telehealth work?

At Greenwood Genetic Center patients seen via telehealth receive the same level of care that they would if they had a face-to-face visit. The patients that are seen in our telehealth clinics are treated just as if the geneticist was physically in the office with them. Each patient is evaluated and examined using high definition handheld video system known as the Horus Scope. The Horus Scope allows the geneticist to guide the telehealth coordinator in examining the patient. The equipment has interchangeable attachments that allow the geneticist to examine the patient from head to toe. The Horus Scope is also able to capture still images when needed.

 

Horus-scope-Telehealth
Horus Scope

 

Benefits of telehealth

  • Saves time-many families minimize the days taken off work
  • Cost efficient- save expenses related to traveling to and from doctors’ offices
  • Reduced travel times- for patients and physicians
  • Increased patient satisfaction
  • Convenient and accessible care for patients
  • Better patient care

Patient Satisfaction

Over 90 percent of the patients seen in the telehealth clinics have been satisfied with services they have received via telemedicine. Many families are opting to have their next visit completed through telehealth. Here are some of the quotes from families that have received telehealth services at the Greenwood Genetic Center:

“This is very good”

“This is great. I will tell everyone about this. Thanks”

“It was awesome”

Telehealth image courtesy SCTA
From the SC Telehealth Alliance (SCTA)

As the wave of telemedicine continue, the Greenwood Genetic Center will continue to provide highest standard of care and access to genetic services to all residents of South Carolina with the assistance of telehealth. Who would have thought a geneticist could be just a click away?

See how our telehealth program is improving care and helping families.

by Jennifer Lynch, Telehealth Coordinator

What’s New in Prenatal Screening?

The field of genetics is rapidly expanding. There is no place this is truer than in the area of prenatal screening for genetic conditions.


So what exactly is prenatal screening?

Prenatal screening refers to any test that assess the risk for a baby to have specific genetic conditions such as Down syndrome. It differs from prenatal diagnosis in that in cannot say yes or no, but can only give an estimate on how likely it is for a child to be affected with a particular condition.

 

Cell-free Fetal DNA

 

Women are typically offered prenatal screening starting at 10 weeks in pregnancy.

As recently as last year women who were considered low risk for these conditions were offered something called the first trimester screen. This test pairs the analysis of levels of proteins in mom’s blood with an ultrasound to give a risk for Down syndrome and another genetic condition called trisomy 18. However, a newer technology has recently taken over as the recommended screening test for all women.

This new technology is called NIPS (non-invasive prenatal screening). For those of you that google, NIPT (non-invasive prenatal testing) and cell-free fetal DNA (cfDNA or cffDNA for short) are other names for the exact same test.

 

How does NIPS work exactly?

NIPS differs from its older counterparts in that it actually looks at chromosome material in the mom’s blood stream, as opposed to proteins made by the pregnancy.

For a refresher, we have 23 pairs of chromosomes. The first 22 pairs are numbered 1-22, and are the same in men and women. The last pair are the sex chromosomes and are typically XY for males and XX for females.

A trisomy is when there are three copies of one chromosome instead of the expected two, and a monosomy is when there is one copy.

The standard NIPS test screens for Down syndrome (also known as trisomy 21), trisomy 18, trisomy 13, trisomy X, Klinefelter syndrome (XXY), and Turner syndrome (monosomy X).

Incidentally, NIPS can predict the sex of the baby. The screening test looks at small pieces of chromosomes that have been shed by the placenta and entered mom’s blood stream. The most common type of technology sorts these small pieces based on sequencing data. That is essentially just a way to say the test reads each piece to try and understand which chromosome it is coming from. If too many pieces of one chromosome are seen, the test will trigger a “positive” result for a specific condition.

 

Let’s stop here.

We mentioned earlier that this test cannot diagnosis a baby with any condition. Then why does the test read POSITIVE in big letters across the top? Confusing right?

In reality the risk will be based on the mother’s age and the specific condition involved, something known as the positive predictive value (PPV). The PPV tells us what the odds are that the child is actually affected. This is due to the fact that some conditions are more common than others, and a woman’s risk for a child with a trisomy increases very slightly each year she gets older.

Many NIPS tests boast a 99% sensitivity and specificity. This may sound like your risk is 99% if your test is positive, but it is typically much less. For example, a 21 year old woman who screens “positive” for trisomy 13, actually only has a PPV of 6%, or a 6% chance that her child actually has trisomy 13. That means there is still a 93% chance her child is completely unaffected! Conversely, a 35 year old woman who screens positive for Down syndrome has a 79% chance her child is actually affected.

 

There are a variety of factors that can cause a false positive.

  1. While the placenta and the baby are typically genetically identical, they may differ due to a process called confined placental mosaicism. If this occurs there is a chance the placenta could be affected with a trisomy but not the baby. Since this NIPS is screening placental material, it would detect this trisomy and give a positive result, even though the baby is unaffected.
  2. The other most common possibility is that the technology incorrectly identified pieces of chromosome during analysis, for example assigning some pieces to 13 that were not actually pieces of 13.

While getting a false positive is terrifying, it fortunately only happens to an estimated 0.2% of women who take the test. This is compared with 5% of all women who get a first trimester screen. Additionally, NIPS detects 99.2% of cases of Down syndrome (and slightly less for the other conditions), compared to an 85% detection rate for the first trimester screen. The best part of this screening is that it can reduce your risk for these conditions to less than 1 in 10,000. While that is NOT zero, it certainly can be very reassuring. A false negative, while possible, is very rare. The only way to know if a baby is affected definitively would be through a diagnostic test such as amniocentesis or CVS (chorionic villus sampling).  

Pregnant woman reading

I wish I could say that I have explained everything you need to know, but there is always more to learn! For instance, some NIPS tests now look for conditions known as microdeletions or single gene conditions like neurofibromatosis, while some have uncovered maternal genetic conditions. Additionally, women who have cancer currently or have had an organ transplant are not candidates for NIPS.

 

Having twins?

Well that’s a whole different can of worms!

Prenatal screening is not right for everyone, and discussing with your OB or a genetic counselor can help you decide if this is something you want to pursue. You can find a genetic counselor near you through the National Society of Genetic Counselors website.

 

Liz Francisco, MS, CGC

Clinical Genetic Counselor in GGC’s Greenville office

 

 

 

Spreading Science in South Carolina

Requests for the Gene Machine’s 2017-2018 school year are now being accepted!
Learn more

A day in the life of the Gene Machine

Gene-Machine-Bus-Map

Wake up, it’s still dark out.  Get out of bed, step on the dog.  Cook breakfast, burn the bacon.  Get in the car, spill my coffee…. Good start, oh and I’m ten minutes late.  I’m an educator, but not in a normal sense.

I work for the Education Department at the Greenwood Genetic Center.

When I arrive at work, most days I climb aboard a 41 foot custom coach packed with enough scientific equipment to make your head spin.  Our team of three: our driver, the other instructor, and myself, then typically take a ride that lasts somewhere between one and two hours to a school somewhere in South Carolina to teach students about genetics in a very unique way.

Introducing students to the world of genetics

Once on site we set up our lab equipment and invite classes of students to join us on what has been termed the “Gene Machine”.   At first, the bus is filled with “oohs” and “aahs” and “this is way bigger inside than I thought it would be”.  Before we ever even introduce ourselves you can see an interest growing, maybe not in genetics specifically quite yet but we will get there.  As we start to teach, we first introduce ourselves, our organization, the Greenwood Genetic Center, (GGC) and describe what GGC does.

We then show them the equipment that they’ll be using, which typically includes teaching them how to use a micropipette and load agarose gels for gel electrophoresis.  As we lead each unique class of students through which ever lab module their respective teacher chose I can slowly see the emotions on the students faces change; from excitement, to interest, to maybe a little bit of confusion mixed in.

The-Gene-Machine

Our labs range from showing students the basics to gel electrophoresis and solving a forensics case to teaching them about topics like folic acid and genetically modified organisms.  We walk our students through an experience they will hopefully never forget, that will take them from what may start as confusion to a destination of a better understanding of genetics and biotechnology accompanied with new excitement about learning.

The-Gene-Machine-South-Carolina

 

Although I never wanted to become a teacher and some days don’t go exactly as planned, I have grown to love my job.  I have been given a chance to not only spread knowledge about a topic that I truly enjoy, but to see and experience people and places I never thought existed in South Carolina.  I have had the opportunity to bring a one of a kind experience to children who may have never gotten the chance to even see our equipment and to work with some amazing students, kids who may not be the most privileged but who are polite, kind, hard working, and just a pleasure to be around.  Between the wonderful students and amazing teachers who work with them every day, I have come to thoroughly enjoy my work and am extremely grateful for this special opportunity.

What is DNA Day?

The Greenwood Genetic Center is excitedly celebrating DNA Day for the entire month of April through various outreach education events across South Carolina. Students are visiting GGC’s campus for tours and activities and hundreds of students are engaging in lab activities on board the Gene Machine! This week’s blog is a guest submission from the NHGRI who promotes and coordinates DNA Day activities around the country.

DNA Day 2017

What is DNA Day?

 

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), is celebrating its 15th annual National DNA Day this year. National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of the DNA double helix in 1953. NHGRI began celebrating this day annually on April 25th after the 108th Congress passed concurrent resolutions in 2003 designating it as “National DNA Day”.

 

Cool, how can I get involved?

 

There are two ways you can celebrate with NHGRI. The first is to become a member of the National DNA Day Network. Becoming a partner with us is easy; all you have to do is host your own DNA Day event. As a partner, you will join a network of other organizations that are engaging students on the latest genomics research and how it impacts our lives. In addition, you will have access to free resources to help you launch your own DNA Day campaign in your community. We offer a starter kit that includes DNA Day logos, PowerPoint slides, nametags, sample press releases, and other materials to help make your event a success.

 

The second way to celebrate DNA Day is to attend an event or participate in an activity related to genomics and genetics. You can visit our interactive map to find an event near you. You can also check out our extensive page of genetics education activities for at-home use or for the classroom. The Get Activity Ideas page provides a list of activities with short descriptions that can be filtered to find specific interest areas. Activities range from interactive web modules, to hands-on activities, to lesson plans for the classroom.

 DNA Day Greenwood Genetic Center Mobile Science Lab

What else is happening for DNA Day?

 

NHGRI is leading the following National DNA Day activities:

 

  • April 25, 1 p.m.: NHGRI will host a National DNA Day Twitter Chat with the hashtag #DNADay17. This moderated discussion will focus on a variety of topics including careers, technology, research and other current topics in genomics.

 

  • April 28, 4 p.m.: The Smithsonian Institution’s National Museum of Natural History and NHGRI will host a presentation by Dr. Dayna Dreger, focusing on a Human Origins Today (HOT) topic.

DNA Day

Visit the Celebrate with NHGRI page for details regarding these events and more.

 

If you are planning an event, NHGRI would love to hear from you. Please contact dnaday@nih.gov if you would like your event featured on our website or need advice about hosting an event.

DNA Day GGC Mobile Science Lab

Should I have testing for hereditary cancer?

Should I have testing for hereditary cancer?

This question is becoming a common discussion between patients and healthcare providers, likely due to increasing awareness, increasing availability, and decreasing cost.  Though hereditary cancer syndromes have been around as long as other genetic conditions, it seems that this specific area continues to garner increasing attention and public interest.

Why has hereditary cancer become such a hot topic in the last few years?  There are undoubtedly many reasons that have played into the increased awareness, but two specific thoughts came to my mind when considering this question.

1) Cancer is common.

Recent estimates from the American Cancer Society show that 1 in 2 men and 1 in 3 women will develop some form of cancer in their lifetime1.  With a prevalence this high, it is easy to imagine that everyone will be affected by cancer at some point in their lives, whether it be a personal cancer diagnosis, a cancer diagnosis in a family member, or a cancer diagnosis in a friend, coworker, or acquaintance.  With such a wide-reaching effect, it makes sense that people will search for an explanation, even for just a small percentage of the cases.

2) Increased media attention.

One notable instance was in 2013, when Angelina Jolie shared her story with the world.  She went public with her decision to undergo a preventative mastectomy following a genetic test showing that she carries a mutation in the BRCA1 gene, and therefore was at a significantly increased risk of breast cancer (in addition to ovarian cancer).  She later decided to pursue removal of her ovaries and fallopian tubes as well.  Her story was soon featured on the cover of Time magazine, and the increase in the uptake of genetic testing following her announcement was coined “The Angelina Jolie Effect”.  A search of the current medical literature shows at least 13 articles delving into this “Effect” and the impact it has had on the landscape of genetic testing for hereditary breast and ovarian cancer.

 

Characteristics of Hereditary Cancer

———–

Now, back to the important question.  Should you have testing for hereditary cancer? 

There are a few things to consider when contemplating the need for genetic counseling and/or genetic testing related to cancer.  As already mentioned, cancer is common.  It is important to realize that only 5-10% of most cancer diagnoses are considered strongly hereditary.  If we turn that around (as we like to do as genetic counselors), that means 90-95% of cancer diagnoses would not be considered hereditary, and may have other contributing factors including environmental exposures, hormonal exposures, or the natural aging process.  While the percentage of hereditary cancers may be small, this is a group of cancers that we can potentially be proactive about.   Keep in mind that though breast cancer seems to get the most attention, many other types of cancer, including colon, ovarian, and thyroid just to name a few, can be hereditary as well.

Here are a few factors that should be considered when determining whether a family has an increased risk of having hereditary cancer syndrome:

  • Are individuals in the family being diagnosed at a younger age than typical in the general population? (ie, breast cancer or colon cancer younger than the age of 50)
  • Are there multiple relatives on the same side of the family with the same type of cancer? Or are there relatives who have been diagnosed with multiple primary cancers?  (Common misconception: This does not include metastasis, or cancerous cells spreading to other parts of the body.)
  • Are there rare types of cancer in the family? (ie, ovarian cancer or male breast cancer)

Distribution of Cancer

The question regarding who should have testing for hereditary cancer can sometimes be complex. 

If your personal or family history of cancer does raise a concern for you, it is reasonable to have a conversation with your doctor regarding the need for a genetic evaluation or potentially increased screening.  A genetic evaluation is commonly performed by a genetic counselor in the setting of a Hereditary Cancer Clinic.  During this appointment, a detailed family history is taken, and, if it is determined that genetic testing may be warranted, the benefits, limitations, and result possibilities of available genetic testing will be discussed.

If a hereditary predisposition for cancer is identified in a family, this information can be used to tailor screening and management for those relatives at a high risk to either detect cancer earlier at a more treatable stage or potentially prevent cancer from developing.  Earlier, more treatable cancer diagnoses and cancer prevention are two very important reasons that I continue to support the efforts of increasing public awareness and knowledge of hereditary cancers.

 

Note:

If you think you or your family may be a good candidate for a genetic counseling appointment in regards to hereditary cancer, please talk to your doctor and visit www.nsgc.org and use the “Find a Genetic Counselor” link to locate a cancer genetic counselor near you.

Counseling-Aids

 

References:

  1. https://www.cancer.org/cancer/cancer-basics/lifetime-probability-of-developing-or-dying-from-cancer.html
  2. http://content.time.com/time/magazine/0,9263,7601130527,00.html

‘Charlie’s Angels’

Dr. Skinner at Race the Helix
Charlie presents Dr. Steve Skinner with his award for winning his age division, as his dad, Wes, looks on.

 

After struggling for years to have a child, Greenville’s Wes and Brooks Connor were elated when little Charlie was born – ten fingers, ten toes, the picture of health. That bliss was short-lived when they learned that Charlie’s newborn screen, commonly called the heel prick test, came back positive. Charlie, who will turn eight in April, was diagnosed with isovaleric academia at five days of age. At the time of his diagnosis, he was the only child in SC with this condition.

 

Isovaleric academia (IVA) is a rare genetic disorder in which the body is unable to break down a certain component of protein called leucine. If left untreated, it can lead to vomiting, seizures, coma, and even death.

“Fortunately, Charlie’s course has been mild and by altering his diet, his IVA has been well controlled,” shared Brooks.

Charlie is followed by Dr. Neena Champaigne through the Greenville office of the Greenwood Genetic Center. “IVA is a recessive condition meaning that while both of his parents are unaffected, they each carry the altered gene,” said Champaigne. “Charlie has been doing well with treatment which includes a low protein diet and supplements.”

“The Greenwood Genetic Center, particularly Dr. Champaigne, has been there for us since we got that first frightening phone call nearly eight years ago,” said Brooks. “I don’t know where we’d be without them, but I do know, even though this disorder is very rare, that we are not alone in this.”

To support other families with genetic disorders and to show their appreciation for the team that cares for Charlie, “Charlie’s Angels” as Brooks calls them, the Connor family hosted last weekend’s 3rd annual Race the Helix – Upstate.

Race-the-Helix-2017
Brooks Connor and her mother happily cross the finish line from the 1 mile walk.

Participants including GGC employees, families, competitive runners, and others who just wanted to do something worthwhile with their Saturday morning, enjoyed a hilly 5K trail run or a nice leisurely 1 mile stroll, all to provide support for families like Charlie’s. Proceeds support the GGC Foundation which provides services for families who are unable to afford them, as well as support for diagnostic testing, research and educational programs of the Center

Race-the-Helix
Ella Basset, 11, is cheered on as she completes the 5k

With five offices across SC, the GGC Foundation is working to develop events and support in all five of those areas. Race the Helix-Greenwood is planning for its 7th year, the first ever LowCountry race will be in Charleston on May 6th. Events in Columbia and the Pee Dee are under development.

The story of the Shenal family, who started the first Race the Helix in 2011 was in an earlier Gene Scene post.

Race-the-Helix-Finish-Line
The Buchanan family celebrates crossing the finish line!