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Restoring the Joy in Family Medicine

Anton Kuzel, M.D., M.H.P.E., looks forward to celebrating the Department of Family Medicine and Population Health’s 50th anniversary in 2020.

Being around to lead a golden anniversary is not something Kuzel, professor and chair of the department for 15 years, necessarily imagined when he joined the faculty fresh out of residency in 1984. A Midwesterner at heart, he grew up and trained in Chicago (his office reflects his love of his hometown, with Bulls, Cubs and other sports memorabilia).

Pre-med student Joshua Rawson works as a scribe in the clinic of Tony Kuzel, M.D., getting briefed ahead of the patient’s arrival and sitting in on the appointment. It’s one measure that can streamline workflow for physicians. Photography by Allen Jones/VCU University Marketing

Pre-med student Joshua Rawson works as a scribe in the clinic of Tony Kuzel, M.D., getting briefed ahead of the patient’s arrival and sitting in on the appointment. It’s one measure that can streamline workflow for physicians. Photography by Allen Jones/VCU University Marketing

“I had an itch to get out of the Midwest and go to a coast,” he says. While in his residency, he started asking around for recommendations. “More than one person said, ‘You ought to check out MCV. They’re strong in family practice.’ That’s all I had to go on; I had no idea that people like [founding chair] Fitzhugh Mayo, M.D., and Maurice Wood, M.D., had done this incredible study on more than 450,000 encounters in Virginia and published in the Journal of Family Practice.”

Mayo and Wood, along with David W. Marsland, M.D., were authors of “The Virginia Study,” which compiled data from physicians across the state to help create an accurate picture of the needs of patients and physicians and ultimately served as the cornerstone for the department’s undergraduate and graduate curriculum and practice-based research.

“I wrote Dr. Mayo cold, told him my strengths and said I was looking for a job,” Kuzel says. Fortuitously there was one, and after interviewing, Kuzel concluded it was a great fit for him. “I said ‘these are the people I want to work with.’” Kuzel came on board in 1984 as associate director of the Fairfax Family Medicine Residency program.

At VCU, Kuzel found a supportive department, dedicated colleagues and a mission he could believe in. Years later, when talking to Marsland (the department’s second chair) about his career path and possibly competing for the chair position opening up in 2003, “I told him the only way I can imagine doing something like that was in service of the larger mission.”

It’s that mission that’s kept him at the university. The department is unique in that it was created by Virginia’s governor and General Assembly in 1970 to address reports that an aging population and the state’s rural residents would need more care than was available. It was one of the first six family medicine departments in the country, and it was charged with preparing competent family physicians to ensure Virginians’ access to quality primary medical care.

As the department’s accomplishments grew, Kuzel has never strayed from its original intent, colleagues say. “I think we all live and breathe that mission pretty strongly,” says Steven Crossman, M’95, associate professor and vice chair of Family Medicine Education and Clinical Operations.

Kuzel, who continues to see patients, has championed expanded research to help family physicians address a changing health care landscape. A past president of the Association of Departments of Family Medicine, he’s co-edited two books on qualitative and health services research and authored many articles and book chapters on the subject, as well as having served as associate editor of the journal Qualitative Health Research.

Kuzel also is principal investigator and lead faculty on the $10 million Heart of Virginia Healthcare initiative, a program aiming to help deliver better care, improve heart health and increase clinician satisfaction. The program is one of seven grantees across the nation funded by the Agency for Healthcare Research and Quality.

As Kuzel has put to work what he’s learned about streamlining workflow and using resources like medical scribes, he’s reclaimed some favorite pastimes. In good weather, he and his wife enjoy their sailboat, moored near Deltaville, Virginia.

As Kuzel has put to work what he’s learned about streamlining workflow and using resources like medical scribes, he’s reclaimed some favorite pastimes. In good weather, he and his wife enjoy their sailboat, moored near Deltaville, Virginia.

The study is timely, as today’s family physicians are facing reduced reimbursements, increased paperwork and a decline in morale. The data collection phase of the three-year grant wraps up this spring, and Kuzel is eager to review the data and develop plans to go forward.

Research like the Heart of Virginia Healthcare initiative was something he’d hoped to be able to undertake for years. “I mean to help primary care practices in Virginia to redesign how they do some of the basic processes so they are more efficient, effective and, importantly, turn down the stress level in the practice.” [see call out box]

Streamlining the workflow and using resources like medical scribes already has worked for him. “On a bad day, I might stay a half an hour after I see the last patient. On a good day, it might be five minutes. And I have no take-home work. Contrast that from what I hear from typical physicians, who say that when the kids are in bed they’ve got up to two hours in the EMR just to keep up.”

Another issue that’s surfaced through the research is the need to give primary care practices tools for dealing with obesity, which, he says, dwarfs every other health crisis today, even opioids. “I worry a lot of primary care physicians look at obesity as the new normal, and it sort of disappears from their attention. Or they’ll give it brief attention, admonishing their patients to eat less and exercise more. But we don’t really have the tools to help our obese patients lose weight. That’s probably the next area I’ll focus on.”

While he waits for the final results of the three-year Heart of Virginia study,
Kuzel already has identified some simple changes physicians can make to help avoid some of the burnout many are feeling today. Those might include:

Pre-Visit Planning – Prior to a patient’s appointment, have staff pull together records, conditions and concerns so that the physician is teed up and won’t have to scroll through the medical record to pull together the information during the visit. At VCU, there’s an automated program for this. Pre-visit planning can identify patients’ chronic conditions and prevention needs, and the physician can be ready.

Lab Work Ahead of Visit – Ensure that patients have appropriate lab work done before their office visit, and have the results on hand so the physician doesn’t have to go back later and share results.

Synchronize Medications – Instead of dealing with patients’ prescription refill requests as they randomly come in, synchronize patients’ medications once a year when they come in for an annual visit. Give the first prescription for three months and then order four more refills. It’ll save time – and money – since physicians typically can’t bill for the time it takes to handle prescription medication management between visits.

For more tips, Kuzel recommends the AMA’s website: stepsforward.org.

While Kuzel’s research aims to improve physician satisfaction, on campus he works to equip the next generation who’ll enter family medicine. One low-tech way the department supports new medical students as they explore options is to reach out early.

“We try to find everyone who’s interested in family medicine the first week of school,” Crossman says. “We invite them up to the department, show them where the coffee machine is, try to get them connected to us and the north wing of West Hospital – which has been our home since before I even started school here.”

The department’s Student Family Medicine Association is an important way students get an early, positive look at the specialty and encouragement to explore the field. VCU’s chapter has received multiple national awards for excellence from the American Academy of Family Physicians.

In addition, every M3 is required to do a month-long family medicine clerkship. “The M3 clerkship is really pivotal,” says JUDY GARY, M.ED., assistant professor and assistant director of the department’s medical education programs. “Many students make their decision to pursue family medicine after they go through the clerkship.”

In order to meet its mission, the department has created a strong network of community-based residencies in locations similar to the places where their graduates will eventually practice.

The department offers two track programs for students. The I2CRP (International/Inner City/Rural Preceptorship) program was created nearly 20 years ago and has grown to include about 24 students per class who plan to practice in underserved communities.

There’s also the newer Family Medicine Scholars Training and Admission Track (fmSTAT), a dual-admission program to the VCU School of Medicine. Established in 2012, it is designed for students certain of their goal to be family physicians. The fmScholars receive special opportunities to learn among a smaller group of students and faculty, and receive 1:1 mentorship with a family physician, a specialized curriculum and other benefits – including a personal recommendation from either Crossman or Kuzel as they apply for residencies.

The department’s investment in students paid off at Match Day this year with the best family medicine match in more than two decades. Thirty-four students matched into family medicine through the National Resident Matching Program, with an additional four students matching into family medicine through the military match and the NRMP’s Supplemental Offer and Acceptance Program.

Kuzel’s personal implementation of what he’s learned from the Heart of Virginia initiative – and the resulting efficiencies – has allowed him to return to some favorite pastimes. In good weather he can be found on his sailboat, moored near Deltaville, Virginia, or in the kitchen. Cooking is a favorite hobby, and he credits Julia Child and Galloping Gourmet Graham Kerr for inspiring him. And though he plans to step down as chair in 2020 to focus on research and patient care – after celebrating the department’s 50th anniversary – he knows the department is in good hands: true to its founding mission of equipping upcoming trainees to care for Virginians – and making sure those family physicians continue to find joy in their practice.

For all of its programs, the department relies heavily on community family physicians, many of whom are alumni. Their efforts as teachers and mentors are invaluable. Alumni also have been philanthropic partners, supporting the 1838 Campaign by making gifts to build an endowment that will provide scholarships to fmSTAT Scholars. To learn more about the department’s programs, contact Judy Gary, M.Ed., assistant director of the department’s medical education programs, at judy.gary@vcuhealth.org.


Through your eyes

Tom Eichler, M’87, H’92, auditioned for the play “Music Man” on a lark.

By the end of his first performance, there was no turning back.

“I remember delivering my lines and the audience roared,” he says. “I was thinking, ‘Hey, I’m funny!’ I was hooked.”

This story first appeared in the fall 2017 issue of the medical school’s alumni magazine, 12th & Marshall. You can flip through the whole issue online.

Tom Eichler, M’87, H’92, as the character of Andrew Carnes in a production of “Oklahoma!”

Tom Eichler, M’87, H’92, as the character of Andrew Carnes in a production of “Oklahoma!”

Since that first performance with St. Michael Theatre Group in 2007, Eichler has appeared in several other theatrical productions around the Richmond, Virginia, area. He’s taken on a wide variety of roles, including Kris Kringle in “Miracle On 34th Street” and Andrew Carnes in “Oklahoma!”

“People think you just go out there and say a few lines and make a few faces,” says Eichler, who has also appeared in five radio productions. “But it’s so much more than that. It requires a lot of discipline. You really have to think on your feet. It’s the same with medicine. Every patient is different and you have to respond to that.”

Eichler, a radiation oncologist with Virginia Radiation Oncology Associates, sees other parallels between acting and medicine. Both, for example, are pressure-packed.

“Every patient expects you to be on your game every day,” Eichler says. “On stage, the actors around you expect you to be at your best as well. Obviously, the stakes are higher with medicine. But in theater, no one wants to be the one who forgets a line. No one wants to lay an egg on stage.”

A graduate of the University of Notre Dame with a degree in American Studies, Eichler worked as an orderly before taking pre-med classes at Le Moyne College. After failing to gain admission to medical school, he accepted a friend’s offer to serve as the stage manager for First Street Theater in Dayton, Ohio. He later relocated to Northern Virginia with his future wife, Alison, and worked at the Folger Theatre as the box office manager.

One night, his parents and future in-laws joined him for dinner.

“I got up to use the restroom, and when I returned they had decided I was going to be a cardiologist,” Eichler says. “It got me thinking.”

He applied again to medical school and this time was accepted to Virginia Commonwealth University.

“I just love the whole process of medicine,” he says. “Being responsible for helping people, along with the rigor and discipline involved, really excites me.”

Despite working 12-hour days and serving on the board of directors for the American Society for Radiation Oncology, Eichler continues to carve out time for theater. Sometimes he works with his wife who serves as costume mistress and producer for several Richmond-area theater companies.

“Everyone has something they do that provides a release,” he says. “It might be riding a motorcycle or mountain climbing. For me, it’s theater.”

Eichler, who plans to retire from his practice later this year, hopes to continue acting for years to come.

“Usually I’m the oldest person at auditions,” the 65-year-old says. “And that’s OK. I have a lot of life experiences that I can pull from. You may be called upon to play a happy role or a sad one. I can get there by remembering the best day of my life or the worst day. I get such a rush from standing on stage and hearing the applause from the crowd. Everyone wants to be loved.”

By Janet Showalter



Piece of the past

All work and no play can make medical students ripe for burnout. History tells us that activities away from the hospital can not only ease stress, but provide new opportunities for lasting friendships.

This story first appeared in the fall 2017 issue of the medical school’s alumni magazine, 12th & Marshall. You can flip through the whole issue online.

An MCV baseball uniform from the 1930s is a new addition to the medical artifact collection of Tompkins-McCaw Library’s Special Collection and Archives.

An MCV baseball uniform from the 1930s is a new addition to the medical artifact collection of Tompkins-McCaw Library’s Special Collection and Archives. Photography by: Kevin Schindler

At the turn of the 20th century, one of the most popular outlets for students was sports. The MCV Campus was fielding a baseball team, dubbed the Medicos, as early as 1907. The recreational team continued competing through 1956.

“Medical students put in so much work in the classroom, it’s easy to forget that they had and continue to have a life outside of that,” says Andrew Bain, who manages the medical artifact collection of Tompkins-McCaw Library’s Special Collection and Archives. “Sports were an important part of student life.”

For the first time, the school will be able to share that story. In May, a Medicos baseball uniform worn by left fielder Earle Carlton Gates, M’32, was donated to Tompkins-McCaw. While the library houses about 6,000 artifacts, including about 100 textiles, this is the first athletic uniform worn by an MCV student.

“We have lots of nurses’ uniforms, but to have something that represents a different aspect of student life is truly special,” Bain says. “This represents a whole new dimension.”

Gates, who was from Highland Springs, Virginia, graduated from the University of Richmond before entering medical school. He also received a master’s degree at Johns Hopkins University. A captain in the Army Reserves, he was serving as the chief of medical and surgical service at Central State Hospital in Petersburg when he passed away at the age of 60 in 1968.

His uniform includes a wool baseball cap, wool jersey and pants, and two pairs of socks. On the front of the uniform is the name of the team, along with an embroidered skull and bones patch on the sleeve. There is also a bulkier wool sweater, which Bain says was probably not part of the uniform but was worn by Gates.

You can check out this piece of the past for yourself. It will be on display in the Pastore Memorial Exhibit Hall on the first floor of the Tompkins-McCaw Library through Reunion Weekend in April.

“All pieces of the uniform are in excellent shape, which is unusual for textiles,” Bain says. “Typically they don’t stay stable because they are made of organic material and are subject to the ravages of bugs and hot and cold.” This find, then, is especially important, Bain says, because so few have survived.

“It’s not a big shock that this is the first of its kind in our collection,” he says. “After students graduated and left, they really didn’t have a need for their uniforms, so they just discarded them. To find one, that’s extraordinary. We can’t wait to showcase it.”

Don Richardson, M’76, discovered the uniform at an estate sale in his Norfolk neighborhood earlier this year. He immediately contacted the medical school.

“I was astounded when I saw it,” he says. “My jaw dropped.”

Richardson, an associate professor of medicine at Eastern Virginia Medical School, was especially thrilled with the find because of his family’s ties to the MCV Campus. His father, David Richardson, H’55, was on faculty for more than 30 years and served as chairman of the Division of Cardiology from 1972–86.

“I grew up here at MCV, so this has special meaning,” the younger Richardson says. “But everyone can enjoy this piece of history. We can all learn from it. I had no idea MCV even had a baseball team.”

The Medicos, also referred to as the “Sawbones,” were not a very good team during Gates’ era. College yearbooks feature photos of the team and point out, “Since this is a professional school, many capable men can spare no time for baseball. Even those who love the sport dearly enough to indulge occasionally are handicapped by the lack of time to practice.” In 1931, playing against such teams as Bridgewater, William and Mary, the University of Delaware and Randolph-Macon, they finished 1–5. “There obviously was no correlation between being a good medical student and being a good athlete,” Bain jokes.

Baseball was not the only popular sport during the early 1900s. MCV also fielded football, basketball, tennis and golf teams. The women’s basketball team was known as the “Sawbonettes.”

“We don’t have a lot of information on the teams, other than the little bit we see in the yearbooks,” Bain says. “That’s the curse of social history. People don’t always leave us much about their everyday lives. They don’t think it’s interesting, so it’s left up to us to fill in the blanks as best we can.”

By Janet Showalter


Alumni spotlight: Cynthia Morton

Cynthia Morton, PhD’82 (HGEN), has been interested in genetics since eighth grade when she needed a topic for a term paper. One of Morton’s former teachers suggested focusing on twins. Morton delved deep, and she has been hooked ever since.

This story first appeared in the fall 2017 issue of the medical school’s alumni magazine, 12th & Marshall. You can flip through the whole issue online.

Cynthia Morton with her mentor Walter Nance, M.D., Ph.D., at her American Society of Human Genetics presidential address in 2014.

Cynthia Morton with her mentor Walter Nance, M.D., Ph.D., at her American Society of Human Genetics presidential address in 2014.

Today Morton is a professor of OB-GYN and reproductive biology and of pathology at Harvard Medical School and director of cytogenetics at Brigham and Women’s Hospital. A past president of the American Society of Human Genetics, her research aims to uncover the genetic causes of hearing loss and uterine tumors. She also is drawing on her training in cytogenetics, a field that looks at chromosomal rearrangements, to hunt for genes associated with human development.

Morton earned her Ph.D. in human genetics on the MCV Campus in 1982. There she became the protégé of Walter Nance, M.D., Ph.D., longtime chair of the Department of Genetics and a past president of the American Society for Human Genetics. “She was one of my best students,” he says. Even after Morton graduated, Nance continued her education by teaching her about applied probability in the annual poker game he organized.

In her 35-year career, Morton has received many accolades. She served as editor of the American Journal of Human Genetics, chair of the Board of Regents of the National Library of Medicine and in 2015 was elected a fellow of the American Association for the Advancement of Science.

Morton and her colleagues are on the cusp of launching a project called SEQaBOO (it rhymes with ‘peekaboo’ and is shorthand for SEQuencing a Baby for Optimal Outcome), which aims to sequence the whole genomes of approximately 400 newborns who do not pass newborn hearing screening. “We want to be able to identify new genes involved in hearing loss and also potentially mutations that have been difficult to detect by alternative methodologies.” she says, such as chromosomal structural rearrangements.

The hope is that once more therapies become available, physicians will be able to tailor interventions for different kinds of deafness. Eventually they might even be able to correct hearing loss by gene editing or gene therapy.

But this information can be valuable today, too, Morton says. For example, researchers know that children who have a mutation in one particular gene, called GJB2, tend to respond well to cochlear implants. And children with a mutation in another gene may not do well with hearing aids. In fact, these devices may even make the problem worse.

Some 150 genes have been implicated in deafness, but Morton expects that number will more than double. “This is the tip of the iceberg,” she says.


Medicine gets personal

Nearly two decades ago, researchers decoded the human genome. Ever since, they’ve been trying to use that code to transform the practice of medicine.

Long flights make her feet swell. Cynthia Morton, PhD’82 (HGEN), has known this for years and wears compression stockings when she flies. But it wasn’t until Morton had her genotyping done that she realized her genetic makeup puts her at an increased risk of developing clots in her veins. The condition can be deadly. She recently used the knowledge as a bargaining chip. Last year, she was invited to give a talk in Europe. She told the organizers about her test results, and asked for a business class seat with more space to stretch her legs. And she got it. Now in a course she teaches she includes a few slides titled, “How I used my genome to get a business class ticket.”

This story first appeared in the fall 2017 issue of the medical school’s alumni magazine, 12th & Marshall. You can flip through the whole issue online.

Nearly two decades ago, researchers decoded the human genome. Ever since, they’ve been trying to use that code to transform the practice of medicine.

But the value of genetic sequencing goes far beyond getting more legroom. The hope is that one day medical decisions will be based not just on lab tests and family history, but on the unique suite of variations found within our DNA. This idea, once called personalized medicine and now commonly referred to as precision medicine, has been around for more than a decade. But only in recent years has precision medicine become part of clinical practice.

The human genome contains more than three billion base pairs. It would take a competent typist working around the clock more than half a century to type out the entire code. When Morton was on the MCV Campus as a graduate student in the late 1970s, she and her colleagues could only manage to sequence chunks about 200 letters long. “At that point, sequencing the entire human genome was a pretty far-fetched idea,” says Morton, now a professor of OB-GYN and reproductive biology and of pathology at Harvard Medical School. (Read more about Morton’s career here.)

Today technological advances have made this far-fetched idea reality. But the promise of precision medicine has yet to be realized in many fields. “The technology often exceeds our understanding of the information we’re getting back,” says Gerald Feldman, PhD’82 (HGEN), M’84. He is the immediate past president of the American College of Medical Genetics and Genomics, and professor of molecular medicine and genetics, pediatrics and pathology at Wayne State University School of Medicine. Although scientists can now access the entire sequence of any individual, the health information locked within that sequence has been difficult to parse. Biologist Eric Lander, who helped lead the Human Genome Project, offered this famous quip: “Genome: Bought the book; hard to read.”

Still, researchers are making steady headway. Morton is working to decipher the pages related to deafness. More than half of all congenital deafness is genetic, but most children never know the particular alterations responsible for their hearing loss. Morton, however, believes that information is crucial, and will become even more so in the coming decades. “It’s really important to know the etiology and to know it early,” she says.

In 2006, she and her mentor, VCU’s founding Department of Human Genetics Chair Walter Nance, M.D., Ph.D., co-authored a paper that argued for more genetic evaluation of infants with hearing loss. At the time, their vision seemed like an “audacious dream,” Morton says. But the advent of next generation sequencing has made that dream feasible.


Nearly two decades ago, researchers decoded the human genome. Ever since, they’ve been trying to use that code to transform the practice of medicine.

In oncology, precision medicine has already become part of clinical practice. Doctors typically order genetic testing for patients with melanoma and some leukemias as well as breast, lung, colon and rectal cancers. The goal is to identify mutations within the tumor that might be driving the cancer. The results help oncologists select therapies that target those pathways. “It’s a really exciting time to be in cancer medicine,” says Charles Clevenger, M.D., Ph.D., chair of VCU’s Pathology Department and holder of the Carolyn Wingate Hyde Endowed Chair of Cancer Research.

Clevenger is impressed at the strides that have been made in treating metastatic melanoma, once considered one of the most difficult cancers to treat. Since 2011, five new targeted therapies have been approved for melanoma patients who have a handful of mutations in the BRAF gene, and more are on the way. “There are some real cures occurring now that five years ago would have been a death sentence,” Clevenger says.

One major advantage of targeted medicines is that they tend to be less toxic. In the 1980s and ’90s oncologists would “take the biggest and baddest drugs and give them to the patient almost irrespective of the particular type of cancer they had,” says Raymond Lewandowski, M.D., a professor in the Department of Human and Molecular Genetics at VCU. Now oncologists can tailor treatment and potentially use drugs with fewer side effects.

Lewandowski is particularly excited about the promise of a new, even more personalized therapy for cancer called CAR-T. The procedure begins with extraction of a patient’s T-cells from the blood. These cells are then engineered in the lab to recognize specific markers on the patient’s cancer cells and expanded to form a cancer-fighting army. Researchers then re-infuse the cells back into the patient. There, “they go hunting,” seeking out and destroying all cancer cells, Lewandowski says.

“The trials have been very exciting and, to a large extent, very successful,” he adds. So successful, in fact, that the Food and Drug Administration approved CAR-T in August. “These cells have the really unique ability to hunt out all of those little, bitty metastatic cells and find them wherever they’re hiding and wipe them out,” he says. “That type of treatment is going to revolutionize cancer treatment for many, many patients.”

Targeted treatments are helping people with heritable genetic disorders as well, Feldman says. In 2012, the FDA approved the first targeted therapy for cystic fibrosis. A second targeted drug became available in 2015. Rather than just addressing the symptoms of cystic fibrosis, these medicines help correct the function of defective proteins in people with specific mutations in the cystic fibrosis gene.

Feldman expects to see many more such drugs approved in the coming years for a whole host of heritable diseases. Although these diseases tend to affect relatively small numbers of people, “if you can extrapolate that to more common diseases that have
some underlying genetic influences, like heart disease or hypertension, there may be opportunities for that type of treatment as well,” he says (read more about Feldman’s career here).

Some people, like Morton, are taking genetic testing into their own hands. A handful of companies in the U.S. offer direct-to-consumer genetic tests. With just a single sample of saliva, these companies provide information about health and disease risk. Perhaps the most well-known company, 23andMe, offers consumers information about their risk of a handful of diseases and whether they carry harmful mutations that could be passed on to their children. The company also provides information about wellness — for example, whether your genes predispose you to being overweight.

Morton enjoyed getting her test results. And she found the data useful. For example, the test showed she was a fast metabolizer of caffeine, so she stopped drinking decaf.

But other geneticists worry that these direct-to-consumer tests can be confusing and misleading for non-experts. Lewandowski says that companies often don’t provide enough support to consumers. “They send the patient a 15- or 20-page report, and tell them, ‘go to your doctor to have them explain what these mean,’” he says. But primary care physicians might not know how to interpret this information either.

Lewandowski also worries that such tests could give people a false sense of security. People who test negative for genetic variants associated with a given disorder assume that they have no risk, but in some cases the testing companies only look at a few risk variants. The Centers for Disease Control warns that direct-to-consumer genomic testing has little clinical utility and offers little to no health benefits. The agency advises consumers to “think before they spit.”

Feldman echoes that advice. “There are lots of things I think a consumer needs to think about before even having the testing done,” he says, including what kind of tests are being performed, how those tests will be interpreted and what will happen to the DNA sample after testing is complete. “Has the patient signed a consent form that allows that sample to be used for other purposes, or is that DNA to be destroyed after the test?” he asks. “One needs to be careful.”

The deeper geneticists peer into the genome, the more ethical conundrums arise. Parents often bring their sick children to geneticists like Lewandowski in the hope that he can discover the cause of their children’s illnesses. By sequencing all the genes in the genomes of both the child and the parents, he can often pinpoint the rare mutation that is to blame. But such extensive sequencing efforts may turn up other potential genetic risks too — some of them serious. “The parents or patients have to decide whether they want that information or not,” Lewandowski says. The choice isn’t easy, but most people choose to be informed. Knowledge, of course, is power. But it can also be a burden.

By Cassandra Willyard


ONE Know what you’re getting. The companies that offer genetic testing aren’t sequencing your genome, or even your genes. They’re only looking at specific spots where variation typically occurs. Genetic variants can provide clues to your ancestry and insight into your risk of developing certain diseases, but the information they provide is limited.

Make sure you understand what will happen to your data. Will it be used for research? Will it be shared with pharmaceutical companies? What strategy will the testing company use to protect your privacy?

The test might tell you that you have variants associated with a certain disease, but not everyone with those variants will go on to develop that disease. Conversely, people without those risk variants can still develop that disease, too. The test doesn’t cover all variants.

Your test results alone are not enough to guide medical decisions. And in some cases the results might not be all that meaningful. For example, the report might tell you that the average risk for a given disorder is 1 in 1,000, and your risk is 1 in 500. There isn’t much you can do with that information.

Other results, however, might help guide your medical care. If you know that you have an increased risk for developing a certain disease, your doctor might be able to recommend lifestyle changes or prescribe medications.

The test might reveal information you weren’t expecting. Perhaps you’re a carrier for a variant associated with cystic fibrosis. If there’s something on the report that worries you, your best bet is to talk to a board-certified clinical geneticist or a board-certified genetic counselor.


She’s walked in their shoes

And has the stories to prove it

Build resilience. Exhibit compassion. Rise above challenges.

This story first appeared in the fall 2017 issue of the medical school’s alumni magazine, 12th & Marshall. You can flip through the whole issue online.

Susan DiGiovanni, M’84, H’87, F’89, was a leader in developing the school’s new curriculum, introduced in 2013. She says the new approach takes even further the organ-based studies that first attracted her to the MCV Campus.

Susan DiGiovanni, M’84, H’87, F’89, knows the words are easy to come by. So instead of platitudes, she shares her own personal story. For more than two decades, she’s been a role model on the MCV Campus. Now she’s the VCU School of Medicine’s newly appointed senior associate dean of medical education and student affairs, and she’s inspiring students and colleagues alike as she tries to become the best physician she can be.

It’s not unusual for multiple generations to go into health care, and like many students, DiGiovanni was introduced to the world of medicine by her father, who worked in a New York hospital. But her story is a little different; instead of a dynasty of physicians in the family, she came from a humbler background.

Both parents, neither of whom graduated high school, initially worked in a garment factory in New York. But soon after they were married, both were laid off. DiGiovanni’s mother, working outside the home in an era when most women didn’t, ended up working for the postal service. Her father took a different route — one that inspired and influenced his daughter for decades to come.

“My father got a job working as a janitor for New York City in the Queens Hospital Center. He would come home every day and talk about all the fascinating things the doctors were doing in the hospital. The first time I ever heard the word CAT scan was him talking about it.”

His daughter was intrigued, and gravitated toward the sciences. “My dad was a huge influence in my decision to go into medicine,” she says. DiGiovanni made him proud, joining the medical school’s Class of 1984.

To save money, she lived at home during her undergraduate studies. And though there were options for in-state tuition for medical school, she had discovered the MCV Campus.

“I liked the curriculum here,” she says. “At the time, we were one of the few schools that taught an organ-based curriculum. That made a lot more sense to me, to teach in an integrated way.”

Susan DiGiovanni, M’84, H’87, F’89

Susan DiGiovanni, M’84, H’87, F’89: “We want to open [students’] eyes to what it’s like to work with patients who are very different. As a physician, you have to be understanding.

VCU was a great fit for her. But she also was able to complete an elective at the hospital where her father still worked, which was fun for both and led to some great stories, as DiGiovanni was able to impress her New York colleagues with her connections. “If there was a problem in the clinic where I was working, I could just pick up the phone and call my dad. Five minutes later, he and his crew would show up.”

After earning her medical degree, she completed internal medicine and clinical nephrology training on the MCV Campus. She practiced privately for a while, and then won an intramural research training award from the National Institutes of Health. She remained at the NIH for four years, publishing her work on the AQP-2 water channel
in multiple journals. In 1995, though, she opted to return to VCU, eventually shifting from physician-scientist to physician-educator and making her mark at the university — while raising a daughter as a single parent. She dived into various roles including director of the second-year renal course and program director of the nephrology fellowship program. Early in 2017, she was appointed to her current position.

“I have had the pleasure of watching Susan teach for 34 years — as a resident, fellow, faculty, program director and now senior associate dean,” says Elizabeth B. D. Ripley, M’86, H’89, F’92, the medical school’s interim senior associate dean for faculty affairs. “She is passionate about helping students at all levels understand, and she nurtures our curiosity and personal development. She is committed to all students’ success.”

Influencing curriculum
DiGiovanni’s interest in VCU’s curriculum is today even stronger than it was in her medical school days. She was a leader in developing the school’s new curriculum, which was introduced in 2013. She says that new approach takes the organ-based studies that first attracted her here even further.

Now the curriculum — the medical school’s biggest change in three decades — gets medical students into clinical areas earlier, working as part of teams and being ready to face the challenges of a new way of practicing medicine.

The new curriculum came about from a “backwards design,” DiGiovanni explains. “We started out by thinking about what we want our graduates to look like when they walk out the door. We listed knowledge, skills and attitudes. A lot of this has to do with professionalism and communication, empathy and respect — things that are just as important as knowing which medication to use.”

Now that the first class under the new curriculum has gone on to residency, she’s made a few tweaks to the program. “I’ve learned that even though certain things sound really grand on paper, keeping things simple is the way to go.”

Administration recently simplified the terminology, reorganized a few areas and are improving the assessment pieces to include multiple miniassessments.

While she’s thrilled to be able to influence the curriculum, teaching remains DiGiovanni’s first love. And as part of her role as a faculty member in the Department of Nephrology, DiGiovanni finds innovative ways to reach her students.

Thinking like a patient
“One of the things we do in the renal course is make the students walk in the shoes of a kidney patient,” she notes. “A patient on dialysis has a restricted lifestyle. On dialysis days, they have to sit in a chair for four hours straight.”

So DiGiovanni asks students to do the same. Living that life — even for a day — gets students thinking, she says, as they write prescriptions for dialysis or other lifestyle modifications. “It makes them reflect on how hard it was. And when the patient doesn’t comply, do you understand why? I try to get them to think about it. As physicians, we can look down on patients who don’t follow our instructions. You did it for one day; can you do it for 365?”

Encouraging empathy in students is a big focus in the School of Medicine. Many students have worked with patients from underprivileged areas, but some have not. “We want to open their eyes to what it’s like to work with patients who are very different. As a physician you have to be understanding.”

‘It’s OK to seek help’
DiGiovanni’s commitment to making sure every student feels supported goes beyond the academic. She readily shares personal stories of overcoming a battle with severe depression to encourage student awareness and coping strategies.

“Depression runs in my family. I had my first episode when I was 14, didn’t get treatment and I didn’t snap out of it for months.” The depression continued, and only  years later did she get help.

“As a medical professional, you think it could ruin your career,” she admits. Instead, with proper treatment, her career flourished, and today, a quarter century later, she tries to de-stigmatize the condition. “I am very open to talking to students about my struggles with depression, and that I spent time in a psychiatric ward and had electroconvulsive therapy. It’s OK to seek help and so much better to go get the care.”

Students need to hear stories like that to boost resilience to the stresses of medical school, says JOY SANDERS, assistant dean of the School of Medicine’s development and alumni affairs office. She has worked with DiGiovanni mentoring students in small groups for a decade. “She has been inspirational to so many students. And she’s able to balance kindness with no nonsense.”

DiGiovanni has inspired so many students, Sanders says, because she shows that you can thrive despite a humble background and a severe chronic condition. “We have a lot of first-generation students sitting around that table, and she knows how it feels. She’s been there.”

By Lisa Crutchfield

Virginia Commonwealth University
VCU Medical Center
School of Medicine
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Updated: 04/29/2016