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Next-generation genomics

The sequencing of the Human Genome Project was necessarily enormous (involving 25,000 to 30,000 genes and 3 billion base pairs), deliberately anonymous, and prohibitively expensive. By contrast, Emory human geneticist Mike Zwick is developing a practical alternative technique of genetic analysis that is focused, individualized, fast, and cheap. The technology and software he is developing will enable small laboratories to rapidly and inexpensively generate large quantities of genetic data for individuals.
     Zwick’s methodology involves gene resequencing, in which the genome of individuals or groups (such as patients with a specific disease) is compared with the human genome. The goal is to identify where differences occur and whether a larger-than-expected number of people with the same condition have the same differences.
     Zwick is using resequencing to search for autism-susceptibility genes, looking specifically at how the genes of boys affected by autism and their healthy fathers differ both from the human genome and each other. The family samples come from the Autism Genetic Resource Exchange, a gene bank with phenotype information, pedigrees, and genetic DNA samples of almost 600 families with more than one member diagnosed with some form of autism.
     From this wealth of information, Zwick has selected 314 families with two affected sons, both of whom share the same portion of the X chromosome from their mother. Each father and son’s genetic material is placed on a computer chip, no thicker than a microscope slide and three-quarters of an inch square. The chip contains a swath of DNA fragments, and the subject’s DNA is mixed in liquid form over this field. The sequences of the two sets of matching DNA “find each other,” or hybridize. The chip is washed so that nonspecific DNA fragments are removed, leaving only matched, or paired, fragments. The subject’s DNA can then be visualized by scanning the chip with a laser.
     From this picture, scientists can determine the DNA sequence of the hybridized fragments using software developed by Zwick and colleagues at Johns Hopkins. When entered into a computer, the information fills the screen with colored dots, the bright lights marking the areas where the subject’s DNA sequence differs from the norm. Statistical analysis of all 314 sets will determine how common, rare, and meaningful such differences are in relation to autism.
     The cost of using the new technology is less than .001 cent per base pair. That’s a large return on investment given the possible benefits—the ability to develop new diagnostic tests and provide a greater understanding of possible environmental exposures contributing to autism. An understanding of the genes involved could even guide development of a treatment, leading to a drug therapy for autism.
     However, the implications of this technology go beyond one disorder. As individualized medicine and predictive health increasingly become realities, there is growing need for rapid, inexpensive identification of genetic differences in people to tailor therapy and eventually lower risk of disease. Next-generation genomics technologies like Zwick’s can help deliver a genome-sequencing center to every lab, whether large or small. –Sylvia Wrobel

On the company agenda
The popularity of so-called executive health programs is growing across the nation as high-powered CEOs seek preventive and tailored health care that fits into busy schedules.
     According to Dave Roberts, medical director of Emory’s Executive Health, “Delta will get you to the exact same destination at the exact same time whether you fly coach or first class. But the Crown Room and in-flight care in the first class cabin can make the flight more enjoyable—not to mention more convenient, with a personalized travel agent to arrange your itinerary and activities once you arrive.” In other words, the care at Emory is the same whether you come through the executive health program or the more traditional route.
     However, with this program, there are some perks as well as certain preventive tests that are not part of a routine exam. Patients wait in an elegant lounge with freshly brewed coffee, new magazines, and a staff focused on anticipating their needs. Two rotating Emory physicians see only six patients a day, offering a half-day health experience that features personalized evaluations and the latest medical technology.
     The executive health program differs from concierge medicine, which provides 24/7 access to a specific doctor for a monthly fee. Executive Health at Emory does provide a higher level of service and convenience but has no upfront membership fee.
     “Frankly, the concierge label has a bad ring to it as a fad or elitist,” says Roberts, Charles F. Evans Professor of Medicine. “It doesn’t apply in our case. We are providing extra service in reaction to the patient’s schedule and needs rather than solely as an entrepreneurial effort aimed at increasing revenue.”
     Specifically, the physical offered through Emory Executive Health includes the coordination of an extensive exam, lipid panel, health risk assessment, ECG, exercise treadmill test, CT scan of the heart, prostate screening or mammogram, and other diagnostic and preventive tests and procedures—some standard and others ordered depending on the needs of the individual patient. According to administrator Reid Willingham, tests results are typically available the same day, and patients are able to review the results during their visit. Patients also receive personalized counseling and participate in a behavior modification program that helps them make lifestyle changes to reduce the risk of heart disease, diabetes, and other preventable diseases. Approximately two weeks after the appointment, the participant receives a bound copy of the exam and other test results as well as a personalized letter from the physician.
     The executive health concept, emphasizing preventive care, makes sense to an ever-increasing number of CEOs, presidents, and other high-level executives. “Emory Executive Health volumes are snowballing, posting a 25% growth in physicals over the past two years, with many referrals from participants who are pleased with the program,” says Willingham. Currently, the program sees 1,000 patients from around the world per year and is competing successfully with similar services at Mayo and the Cleveland Clinic.
     Emory Executive Health bypasses insurance billing. The service is an out-of-pocket expense (starting at $1,386 for men and $1,394 for women) that is usually covered by large corporations for their high-level executives or increasingly by people willing to pay the extra cost. “About 70% of our participants are covered by their company, and the other 30% are self-pay,” says Willingham. “Corporations realize this is not only good health care for the executive but also good for the company’s bottom line.”
     The core population for the program may give health care exams low priority to their busy schedules, especially if they are having no symptoms, says Roberts. “Our greatest benefit is in partnering with the company to get these key people to take a morning off to focus on the most important thing they have going for them, their health, and to make sure that they stay in peak condition.” –Sherry Baker

The almost $1,400 pricetag for a visit to Emory's Executive HEalth is ofen covered by corporations, which recognize its value, says Dave Roberts.

Caring for the invisible
Conducting a health fair in a homeless shelter wasn’t exactly what Mercedes Rice had in mind when she declared her nursing major. But soon into her first semester at Emory’s Nell Hodgson Woodruff School of Nursing, that’s exactly where Rice found herself: teaching homeless clients of downtown Atlanta’s Gateway Center about nutrition and dental hygiene.
     “It was a great experience,” says Rice. “Doing service learning with the homeless would change anybody’s outlook about the homeless or about themselves. It’s something I’ll take with me.”
     Service learning connects community service with academic education and is one way that Emory’s nursing students are getting real-world experience long before they graduate. That’s the goal of Monica Donohue, coordinator of the school’s program with Gateway. She teams with professors to provide graduate and undergraduate students with experiences that are unavailable in a classroom.
     “Our ultimate purpose is to meet the clients’ needs at Gateway,” says Donohue. “We don’t want to place our students just so they can meet the requirements for a course. We want to provide something meaningful for the community.”
     For Emory’s partnership with Gateway, “something meaningful” includes education and prevention that can complement an on-site, acute care clinic operated by St. Joseph’s Mercy Care Services. As Donohue says, “Clients can go to St. Joseph’s and receive medications, but how do we identify those who don’t yet know they have high blood pressure?
     Or how do we educate the homeless to let them know that hypertension is a big issue with their population? That’s where the students come in. They can do a lot of health promotion and disease prevention via health education.”
     The education goes both ways. After four years of working in an emergency room, Amanda Goodwin completed her MSN at Emory this past December. Doing hand clinics at Gateway before graduation connected her to why she chose this work. In the clinic, students wash the clients’ hands, trim nails, and do an assessment of their skin, finishing with a hand massage. They also offer foot clinics, which are particularly valuable for people who spend most of their time on their feet. “The experience reinforced my desire to work with the indigent,” Goodwin says. “I am reminded of how we are all human—and worthy of respect.”
     Cheryl Dukas, who also worked in hand clinics at Gateway while finishing her MSN, came away with a similar insight. “The thing I remember about the people I served was that I saw a lot of dignity and grace under tremendous pressure and vulnerability,” she says. “Most clients showed evidence of good hygiene—an indicator of all kinds of physical and mental health conditions—which was interesting considering the challenges of keeping clean if you’re homeless. These people wanted to share their lives and their stories,” she adds. “They wanted to not be invisible.”
     The clinics emphasize the importance of touch, says Donohue. “They are about one human connecting with another.”
     As Emory’s partnership with the Gateway Center enters its second year, Donohue has plans for the program to expand. More students will have an opportunity to provide long-term health counseling, monthly health education, regular health screenings, and first aid training for Gateway staff.
     That’s welcome news to Vince Smith, executive director of Gateway. “This community needs to know that people care and that new beginnings are a real option,” Smith says. “Bringing Emory’s strengths to this community can make a dramatic and eternal difference.” —Dana Goldman

The thing I remember about the people I served was that I saw a lot of dignity and grace under tremendous pressure and vulnerability. - Cheryl Dukas

Hospital room with a view
The head architect needed to know if the design for a patient room in Emory University Hospital’s new neuro ICU would suit how nurses work. So while he lay on the hospital bed in the full-scale model, he had himself intubated. Or rather, a nurse pretended to intubate him. The drill was videotaped and later used in a feedback session to refine the design.
     The nurse, Michelle Ossmann, a neuro-critical care nurse practitioner at Emory Hospital, is an undergraduate and graduate alumnus of the Nell Hodgson Woodruff School of Nursing (SON) and currently a PhD student in architecture at Georgia Tech. In December, along with other students, she presented her final project in a collaborative Emory/Tech course that for the first time incorporated the disciplines of nursing, industrial design, architecture, computer science, systems engineering, and human computer interaction to design the patient room of the future. Working in teams, graduate students from all of these disciplines designed new ways to address the needs of hospitalized patients, their families, and staff.
     Gerri Lamb, Visiting Independence Foundation and Wesley Woods Scholar and one of the instructors for the course, took students on hospital tours to see rooms and talk with nurses about what works and what doesn’t work in the hospital environment. The students saw plenty of what fails to work, Lamb says—bathtubs that are inaccessible, awkward arrangements of patient beds, limited space for family members, and lack of work surfaces for nurses, for starters.
     Nursing Dean Marla Salmon says patient care and hospital design are intrinsically linked, with the physical and emotional environment contributing to patient safety and healing. Salmon also notes that hospital design is especially important in light of the nursing shortage and aging workforce. She hopes the class will lead to a joint nursing and architecture degree between Emory and Tech.
     Will Ossmann continue to work as a nurse after earning her architecture degree? “Absolutely. My concern is patient care. The best way to influence the physical environment for my patients and colleagues is to know what’s happening on the ground,” she says. She predicts the field of health care architecture and design will continue to grow, attracting not only nurses but also other health care professionals.

  What does the new patient room look like?

A large, widescreen TV/computer monitor hangs on the wall facing the bed. Doctors access it to videotape an update for the patient’s medical records or leave a message for the family.
A smaller screen sits in front of the patient, which can play the radio and television or display a clock when not in use. It also serves as the nurse call system with video chat capability.
Behind the bed is a wall of cabinets and drawers for clothing storage, a Murphy twin bed for a family member, with a privacy screen and a fold-down desk for a computer.
The shower is equipped with a seat that slides on a support rail that wraps around the perimeter of the bathroom. A vinyl screen can be pulled out from the wall to provide privacy for the patient but is only waist high to enable help from a caregiver. A narrow drain snakes around the floor for easy cleaning.
A “care cart” provides for patient needs throughout the room and has mobile and stationary components. The mobile cart has an over-the-bed work surface for procedures and allows immediate access to gloves, needle disposal,
and supplies.

Behind the scenes of "Grady's Anatomy"
When CNN began filming at Grady Hospital last winter, the Emory residents at the center of its focus were in for a few surprises. Robin Lowan, Lou Tumialan, and Andrea Meinerz (center, l to r) appeared on air on March 24 and 25 as stars of the docu-drama that explored the lives of residents at work and home. Here’s how two of the residents described the experience.
     First-year ER intern Lowman: “I was shocked at how closely the camera crews were following me. I had thought the camera would be in the corner during my shift, but it was only 6 inches away. At first I was skeptical but after a couple of hours into the shift, the camera crew had learned how to move fast.
     “It was a little exhausting. I’m used to getting off my shift and going home to decompress. However, after the shifts, I had to debrief for one to two hours. It also was draining to explain each patient to the camera. Grady’s ER is so busy that anything that slows you down can throw your entire night off. So I tried to explain as quickly and accurately as possible.
     “I would certainly do it again. Any opportunity to showcase the dire needs of emergency care, the needs of the uninsured, and the work ethic of physicians is one that I will never pass up.
     “I haven’t gotten any movie star treatment, only a lot of jovial teasing. I have to be at the hospital at 5:30 AM every day, along with the colleagues on my rotation. In the end, I’m another resident trying to learn as much as I can, do no harm to my patients, help heal the wounded, mentally and physically, and give African-American girls hope that they too can achieve in a society in which there are many negative images on TV.”
     Fifth-year neurosurgery resident Tumialan: “At first, [the filming] was a little unnerving. You became overly conscious about every word that came out of your mouth. However, by the end of the first day of a camera on your tail, you hardly noticed it.
     “The questions asked by the producers during the debriefs prompted a lot of introspection. I found myself reflecting more and more about what it is that we do as resident physicians at Grady and our role in society at this point in our medical careers.”
     When asked if he’d do it again, Tumialan says, “without hesitation.” And is he now a star at work? “No movie star treatment, still taking as much call as I did before this whole thing started. With regard to my family and friends, I decided to surprise them.”

The big brown bear and the two blind mice
Eastern medicine discovered it first, but now scientists in the West have validated the finding. A component of bear bile is promising in fighting some eye conditions that lead to blindness. Researchers at the Emory Eye Center have found that a synthetic version of bear bile—used to treat visual disorders in Asia for more than 3,000 years—has the potential to treat age-related macular degeneration, retinitis pigmentosa, and glaucoma. Their study appeared in the December 29, 2006, edition of Molecular Vision.
     Working with scientists at the Atlanta Veterans Affairs Medical Center, the University of Minnesota, and the University of Lisbon, Emory ophthalmologist Jeffrey Boatright found that systemic injection of a primary component of bear bile prevents programmed cell death in the eye. It also preserves function and structure of retinal photoreceptor cells in two different mouse models of human retinal degeneration. The researchers hope that their results will lead to clinical trials in humans and ultimately use of the substance to treat diseases that lead to blindness.
     The compounds tested are synthetic and relatively inexpensive and do not come from bears, says Boatright.

The 2005 Faculty Scholarly Productivity Index, produced by Academic Analytics and reported in the Chronicle of Higher Education, measured faculty productivity in universities across the country, based on publications, federal grant funding, and honors/awards. Emory was included in the top 10 ranks for immunology (3), microbiology (5), nursing (2), pathology (1), pharmacology (5), and public health (8).
Recent NIH recognition has come on two different fronts. Emory’s HIV/AIDS Clinical Trials Unit is a primary site in both the cinical trials and vaccine section of NIH’s premier networks. The NIH also chose Emory as one of six new Centers of Excellence for Influenza Research and Surveillance, which will expand and improve surveillance of seasonal and avian flu and determine how flu viruses mutate to infect different species.
Through a collaboration between the School of Medicine and Goizueta Business School, Emory will offer a new joint doctor of physical therapy (DPT) and MBA degree. Business decisions are having a broad impact on the way health care is provided, and physical therapists equipped with management and financial skills will be better positioned to succeed. In U.S. News & World Report rankings, Emory’s DPT program ranks 8th in the nation, and its MBA program ranks 18th. Few DPT programs in the nation offer dual degrees.
Atlanta businessman J. Rex Fuqua has donated $2 million to create an endowment for a chair for Emory’s new Childhood and Mood Disorders Program. Suicide is the third leading cause of death for American children and adolescents, but little is known about what causes depression and mood disorders in the young. Emory’s program will provide outpatient and inpatient short-term care; engage in research using neurobiology; explore brain imaging and genetics; and train future child and adolescent psychiatrists and psychologists.
The Emory Vaccine Center received the Georgia Biomedical Partnership’s 2007 Biomedical Community Award. As a member of the partnership’s 2006 legislative response team, Marie Csete, director of Emory’s human embryonic stem cell lab, was honored for efforts related to cloning and stem cell legislation in Georgia. The organization also recognized Emory, Georgia Tech, and the Medical College of Georgia with a Deal of the Year award for the NIH grant to create a Nanomedicine Development Center focused on repair of DNA damage.


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