Hello, everyone. My name is Natario Couser. I am presenting this talk from Richmond, Virginia, and I will be talking about the day and the life of a clinical geneticist. My financial disclosures are I participate with clinical trials of severe therapeutics and the National Cancer Institute Children's Oncology Group, and I participated as a book editor with Elsevier. I wanted to first thank Dr. Jen Bassetti and Dr. Alessandra Fernandes and the other members of the ACMG membership committee for allowing me to participate with the 2021 ACMG virtual meeting student workshop, Careers in Medical Genetics. I wanted to thank CNTB for helping me to produce this recording, and I also wanted to thank the undergraduate graduate genetic counseling and medical students, as well as other individuals who have tuned in to listen to this talk. I'm going to discuss the role of clinical genetics as it pertains to me and my pathway. I have a background in ophthalmology, so I'll particularly be focusing on the life of an ophthalmic geneticist. There are 24 boards in the U.S. that certify physician specialties within medical genetics and genomics. There are a variety of different certificates in this field. The primary special certificates are in clinical biochemical genetics, clinical genetics and genomics, laboratory genetics and genomics, and subspecialties in medical biochemical genetics and molecular genetic pathology. A clinical geneticist is a physician who holds a U.S. or Canadian earned MD or DO degree or equivalent as defined by the American Board of Medical Genetics and Genomics. Trainees must complete a minimum of one year in an ACGME accredited residency, and that includes 12 months of direct patient care, and then complete an ACGME accredited residency in medical genetics and genomics to sit for the board. This residency can be done in a two-year categorical residency or in one of the four-year combined residency training programs, and these programs include pediatric internal medicine, maternal fetal medicine, and reproductive endocrinology and infertility. This is my pathway here. I was born in Virginia, and I ultimately went to college at the University of Virginia in Charlottesville, Virginia. I majored in biochemistry and knew I wanted to go into medical school. I went into medical school at the VCU, Virginia Commonwealth University School of Medicine here at Richland, Virginia, and I stayed there and did my internship in internal medicine, and within medical school, I at the time knew I wanted to do something actually surgical, and so I had an interest in ophthalmology from my shadowing experiences, and after medical school, I went and did an ophthalmology residency at Howard University College of Medicine in Washington, D.C. When I was there, I had the opportunity to rotate at the National Institutes of Health. I got exposed to an abdominal genetic clinic that they had there. After I completed my ophthalmology residency, I had an interest in working with pediatrics within this specialty, and I decided to pursue a fellowship program within pediatric ophthalmology and adults for business at Emory University School of Medicine in Atlanta, Georgia, and then I subsequently went back to Virginia. I was working in chiropractic for several years, and while I did that, I did a biotechnology master's program at Johns Hopkins University that was heavily ingrained in genetics. Opportunity presented itself for me after that, and I was able to go back and pursue a clinical genetics training program at the University of North Carolina School of Medicine. While I was there, I had the opportunity to rotate through the adult genetic service, cancer genetics, neurogenetics, pediatric genetics, metabolics. I got to spend time in the cytogenetics laboratory, molecular laboratory, as well as the biochemical lab, and when I completed my training there, I returned back to Richmond, Virginia. I joined the faculty at the DCU School of Medicine, where I started a few years back, an abdominal genetic clinic. So our bodies are made up of trillions of cells, and the majority of these cells have 23 pairs of chromosomes. You get one set from mom, you get one set from dad. On these chromosomes are about 20,000 genes, and each gene is responsible for making a protein that has a certain job to do. The proteins that determine our height, how well our heart beats, how well we sleep. As a clinical geneticist, we try to figure out where the instructions may be incorrectly in a particular gene that's not leading to the correct protein. As a clinical geneticist, we provide comprehensive genetic diagnostic services and participate with management, therapeutic, and counseling services and decisions as well. Now with my clinical geneticist hat, I am an abdominal geneticist, and abdominal genetic disorder is really any genetic disease involving an abnormality of the eyeball, eyelids, external ocular adnexa, or visual pathway from the retina to the brain. And although hereditary eye diseases are rare, genetic factors are a major underlying cause of childhood blindness and significant visual impairment in adults. Now some of these conditions are known for significant visual limitation, and others may have no associated visual compromise, but may have physical characteristics that represent a diagnostic clue that as a clinical geneticist, we can help figure this out. Now the pathway to a diagnosis can be long, and there have been recent advances in molecular genetics that have helped us identify a substantial number of genes and conditions known to contribute to eye disease. However, the journey can be long and involve numerous doctor visits, diagnostic tests, and be a significant emotional financial burden on the patient and family involved. And these are the abdominal cell specialties listed there, and really an abdominal geneticist is really the new kid on the block. There are a variety of different pathways one could pursue a career in this particular field, and if I could highlight this last particular one here, where you do a training in ophthalmology program, and then also a training in medical genetics at one of the programs that are available around the United States. This pathway may lead to board certification, and one may acquire formal training in all the areas of clinical genetics. There's a cross-certification summary of diplomats currently certified by both the American Board of Medical Genetics and other medical boards. And for my particular example, I was certified in ophthalmology and genetics, as are some other individuals that have done this. And then as you can see here, there are a variety of other different specialty fields with this cross-certification, where other members are double board certified. So in our particular ophthalmic genetic service at VCU, our purpose is really threefold. We want to establish a diagnosis to figure out recurrence risk counseling for the family, or who else in the family may be at risk, and thirdly, inform a patient and family regarding management and clinical trial eligibility. Our particular clinic is the only dedicated specialized clinic in the state of Virginia. We started back in the summer of 2018, and it really involves myself as well as a genetic counselor and ophthalmic technician that I work closely with. Our patient visits are long, they take around three hours. The visit really starts even prior to the exam day, about a week or two before we reach out to the patients, inform them of what to expect for the visit. And then on the actual exam day, the reason why the visits take long is that we provide a comprehensive clinical evaluation of the visit that includes several things listed there. That includes genetic counseling services, ophthalmic imaging, as well as a test called an ERD, or electroretinogram, where we measure the mass retinal response of cells inside the eye to a light source. And then we also provide additional services and discuss ongoing relevant research and clinical trials that may pertain to the particular patient. There are a variety of different conditions that we see in eye genetics, and you can see listed there, and these involve conditions both in children and adults. And this is really a flow chart here of how things work with our particular service. And again, we wear my clinical genetics hat here. So initially, the patient is evaluated by their medical provider. If there's not a suspicion for a single gene, or there's a low suspicion for a single gene or chromosomal abnormality, they continue their present management. If there is a suspicion based on one of these things, they include congenital anomalies, dysmorphic features, developmental delays, intellectual disability, multi-system abnormalities, nyctalopia or night blindness, nystagmus, that's the rapid eye shaking, unexplained visual deterioration, or a reduction of their vision on the eye chart or family history of known genetic syndrome, and this may trigger a referral to our Ophthalmic Genetic Service. Prior to deployment, again, we're providing expectations of the visit and retrieving relevant medical records. And then the workup involves several things. We do detailed prenatal and birth developmental history. We obtain a three-generation pedigree. We do a physical exam with special attention in place to the eye and ocular acnexa and facial features, but we also sometimes do growth parameters and body proportion measurement. We do ophthalmic imaging, visual field testing, electrophysiology testing is needed. Sometimes a radiology or biochemical tests are also acquired. Again, we provide the counseling, and then we also address low vision needs and psychosocial adjustments as well. We try to arrive at the accurate most clinical diagnosis, and at that point, we discuss testing limitations and potential financial, social, and emotional consequences and results prior to testing. And then we, at that point, would try to perform a targeted single gene or next-generation sequencing panel. Sometimes we have more of a nonspecific heterogeneous collection of findings that would make sense to do a more broader testing. We discuss the variety of tests and results that one may expect to come back. And then once the testing is done, we provide, we go over the genetic testing report, and we provide education on the condition, recurrence risk counseling, and discuss relevant research and clinical trials, and then even discuss treatment if available. I enjoy what I do as an abdominal geneticist. I really enjoy my training in clinical genetics, and I certainly would encourage anyone interested in this particular field to certainly pursue it. You're welcome to reach out to me. My email is located online through the VCU School of Medicine, and I want to wish you all the very best in your career paths and decisions that lie ahead.

Natario Couser

clinical genetics

ophthalmic geneticist

genetic diagnostic services

career path