Medical directionsuwhealth.org/MDNews • Vol. 10 • Issue 2 • 2014

PA-3

8921

-14

P5

Medical literature and the popular press increasingly use the term “personalized medicine” when describing the newly emerging health care era. And nothing gets more personal than the unique genetic make-up of each and every one of us. The FDA describes personalized medicine as “tailoring medical treatment to the individual characteristics, needs and preferences of a patient during all stages of care, including prevention, diagnosis, treatment and follow-up.” The FDA has also increased its interest in understanding how genetic information can be integrated into clinical decision making.

At UW Health, researchers and clinicians are focusing more attention on how genetic information affects clinical care and are working with patients and their families to better understand how genetics can affect their lives.

Genetic testing is an option for patients at several UW Health programs:

Digestive Health Center GI Genetics Clinic Patients who have, or suspect, a hereditary link to gastrointestinal cancers, have access to a specialized GI genetics clinic at the UW Health Digestive Health Center in Madison. Jennifer Weiss, MD assistant professor at UW School of Medicine and Public Health and director of the UW Health GI Genetics Clinic, says the clinic is tailored for patients who might have a hereditary cancer risk for colon, pancreas, esophageal and stomach cancers such as Lynch syndrome, as well as patients who may have a hereditary polyposis syndrome such as Familial Adenomatous Polyposis, Juvenile Polyposis Syndrome or Peutz-Jeghers Syndrome.

“Genetic counselor Amy Stettner and I meet with every patient referred to the genetics clinic,” said Dr. Weiss. “We gather family and personal medical histories and other information like pathology and endoscopy reports. If patients test positive for a genetic link to GI cancers, we send them a letter that summarizes the results and outlines the potential risk for other family members.”

Following a positive test, Dr. Weiss and Stettner formulate a plan for the patient and family.

“We have identified Lynch syndrome in a number of asymptomatic patients, placed them on the appropriate surveillance protocol and have found pre-cancerous polyps,” said Dr. Weiss. “We’re actually preventing cancer in many of these patients.”

The most common thing seen at the genetics clinic is Lynch syndrome, an inherited condition that can increase the risk of colon and other cancers, including endometrial, ovarian and skin cancer.

“We do get some referrals from gynecologists and dermatologists who suspect Lynch syndrome,” said Dr. Weiss.

Not all patients referred to the UW Health GI Genetics Clinic undergo genetic testing. Dr. Weiss says a patient may have an increased familial risk for a GI cancer, but without the classic signs of the few known hereditary cancer risk syndromes such as Lynch syndrome or Familial Adenomatous Polyposis. In those cases, a tailored surveillance plan is put together and the care staff monitors patients annually in clinic.

According to Dr. Weiss, “Physicians with patients who may have an increased history of cancer in the family or any patients who have had a GI-related cancer or a large number of precancerous colon polyps shouldn’t hesitate to refer them to the GI Genetics Clinic for evaluation.”

For more information about the GI Genetics Clinic, visit uwhealth.org/gigenetics

comprehensive Genetic services

new Facial nerve clinic offers coordinated care for chronic Facial ParalysisThis year, Wisconsin physicians will diagnose between 1,150 and

1,700 patients with Bell’s palsy, a term given to facial paralysis when

no cause can be identified. While 80 to 90 percent will fully recover,

a small group will experience residual deficits, such as difficulty with

eye closure, asymmetric smile, nasal breathing dysfunction, eyebrow

droop or trouble eating. After paralysis, patients may also have

facial tightness, spasm or unwanted muscle movement (synkinesis).

This might lead to loss of confidence or depression. People with

these symptoms simply do not know that successful treatments are

available, nor do many physicians. Now, patients who suffer from any

type of chronic facial paralysis can find treatment at the new

UW Health Facial Nerve Clinic.

The Facial Nerve Clinic offers a multidisciplinary approach to

diagnosing and treating long-standing facial paralysis. Its team of

otologists, otolaryngologists, facial plastic surgeons, oculoplastics,

health psychologists and facial nerve therapy experts work side-

by-side offering individualized care plans for children and adults.

Treatment includes facial rehabilitation and surgery such as dynamic or

static surgery options to lift sagging parts of the face, improve eyelid

positioning and in some cases give movement back to the face.

Continued on page 5

Medical Directions is published by UW Health Marketing and Public Affairs Department, 301 S. Westfield Road, Suite 250, Madison, WI 53717.Copyright 2014, UW Hospitals and Clinics Authority Board

Editor: Nicole Barreau Design: Melissa Rodriguez Production: Michael LembergerPhotographer: John Maniaci

600 Highland AvenueMadison, WI 53792 Md

Sign up for the electronic version of Medical Directions at: uwhealth.org/MDNews

SERVICES from page 1

Inherited Arrhythmias Clinic

For patients facing the possibility of an inherited cardiac condition, UW Health’s Inherited Arrhythmia’s Clinic offers genetic counseling to help them and their families understand the benefits and limitations of genetic counseling. They also help patients cope with the diagnosis.

During the first clinic appointment, patients meet with the cardiac genetics counselor to discuss their own and their family’s medical history. This includes questions about any “heart attacks” or unexplained sudden deaths at young ages, or other heart-related issues both in immediate and distant family members. With that information, the genetic counselor creates a detailed pedigree of any symptoms suggesting an inherited arrhythmia condition. The pedigree helps providers gain a more thorough understanding of the diagnosis and may identify other relatives who have the same inherited cardiac condition.

Although it can be helpful for many patients, this type of testing is now commercially available for most inherited cardiac conditions, pursuing genetic testing involves careful consideration.

“It can be stressful and challenging to receive a diagnosis of an inherited cardiac condition,” said Kate Orland, UW Health’s cardiac genetic counselor. “So it’s important for patients to understand what information genetic testing can and cannot provide. You have to weigh the benefits with the potential cost, and insurance coverage can often play a critical role in the decision.”

For more information about the Inherited Arrhythmias Clinic, go to uwhealth.org/IAC. To learn more about genetics counseling in the clinic, contact Kate Orland at (608) 263-1167.

UW Carbone Cancer Center In addition to the GI Cancer Genetics Clinic, genetic counselors at the UW Carbone Cancer Center offer cancer risk assessment and counseling to patients who have concerns about their personal or family cancer history for any type of cancer.

Counselors specializing in cancer genetics and risk assessment collect detailed medical and family histories, review relevant medical records, determine the probability of a hereditary basis to cancer in the family and provide cancer risk estimates for patients and their families.

They spend time educating patients about genetic and non-genetic cancer risk factors, and help them make psychosocial adjustments to the diagnosis of an increased cancer risk. Counselors can also help address insurance coverage and privacy issues.

For example, in the UW Health Breast Center there are four genetic counselors who specialize in helping women at increased risk for breast

cancer. Hereditary breast cancers account for 5 to 15 percent of all breast cancers, and these cancers develop at a younger age. Women concerned about a strong family history of breast cancer can work with the Breast Center counselors at the UW Health Prevention, Assessment and Tailored Health Screening (PATHS) Clinic. By identifying the elevated risk in these women, physicians can provide guidance on screening and prevention strategies so patients can make informed decisions about their medical and lifestyle choices.

For more information about genetic counseling through the UW Carbone Cancer Center, call (608) 263-7284. For more information about the UW Breast Center’s PATHS program, call (608) 266-6400 or visit uwhealth.org/breastcare

Obstetrics and Fertility Care Generations Fertility Care offers genetic carrier screening as an optional test to the patient. Samples are tested for 23 specific conditions. The American Congress of Obstetricians and Gynecologists and the American College of Medical Genetics generally recommend that any genetic testing be tailored specifically to an individual patient’s background and medical history. At Generations, a certified genetic counselor is available to help patients understand test results or provide information and support about genetic conditions. For more information and provider contact details, visit uwhealth.org/generations

Genetic counseling also is available at the Center for Perinatal Care at Meriter where UW Health Maternal Fetal Medicine specialists care for women with high-risk pregnancies. For more information and provider contact details, visit uwhealth.org/obgyn

Insurance Coverage for Genetic Testing Obtaining coverage for genetic testing can be a challenge. Not all insurance companies will cover genetic testing, so it is important for patients to communicate directly with their insurance providers before pursuing genetic testing.

Learn more online at uwhealth.org/MDNews

For more information, please visit the Facial Nerve Clinic online at uwhealth.org/facialnerveclinic

Printable Directory Option Now Available

UW Health is pleased to offer a new on-line resource for physicians and their staff who would like a printed directory of UW Health physicians and advanced practice providers. Due to the changing nature of the information it contains and the impact on the environment, UW Health no longer prints a comprehensive directory.

Visit uwhealth.org/printadoctor to access the printable directory.

Facial nerve disorders are characterized by drooping of one side of the face.

PARENT CARRIER

PARENT CARRIER

1AFFECTED

INDIVIDUAL

2 3UNAFFECTED

CARRIERS

4UNAFFECTEDNON-CARRIER

“You have to weigh the benefits with the potential cost, and

insurance coverage can often play a critical role in the decision.”

—Kate Orland, UW Health’s cardiac genetic counselor.

orthopedics

For Ray Vanderby, PhD, realizing the promise of regenerative medicine in orthopedics has been a long-term goal. His current research is edging him closer to that reality than ever before.

Dr. Vanderby is a professor in the University of Wisconsin Department of Biomedical Engineering and in the Department of Orthopedics and Rehabilitation, where he directs the Orthopedic Research Laboratories. He has an affiliate appointment in the Departments of Engineering Physics and Mechanical Engineering. Dr. Vanderby’s research focuses on the biomechanical behaviors of pathological and damaged musculoskeletal tissues and strategies for restoring them to normal function. His work is highly interdisciplinary, ranging from purely mechanical descriptions to new methods for functional imaging to tissue engineering and regenerative approaches to wound healing. He is interested in:

• Modulating the healing process in ligaments, tendons and muscle to entirely regenerate the

original native tissue. Techniques include controlled local release of biofactors to mediate the local immune response as well as stem cell therapy approaches.

• Using nanofiber scaffolds and tissue engineering approaches to regenerate ligaments and tendons.

• Developing new ultrasound-based methods to noninvasively explore biomechanical behaviors of tissues for diagnosis, functional assessment and interoperative evaluations.

• Better defining the fundamental behaviors of normal, pathological, damaged and healing tissues, relating elastic and viscoelastic descriptions to composition, microstructure and cellular interactions.

To achieve these goals, he developed multiple approaches for experimental and applied mechanics, including histology, cellular and molecular biology, biochemistry and various other methodologies.

P4P3

clever twist on a clinical trial regime May open Bone Marrow transplants to More PatientsTreatment options for people with hematological disorders such as leukemia have increased over the years, but there remain frustratingly few options for patients with refractory acute myelogenous leukemia (AML). Allogeneic blood and marrow transplant offers the only chance for a cure in most patients with AML, but if a patient is not in remission at the time of transplant, survival remains exceptionally poor.

The most successful allogeneic transplants require a human leukocyte antigen (HLA)-matched donor for a patient in remission. A close HLA match increases the likelihood of a successful transplant and lowers the possibility of graft versus host disease. Certain HLA-mismatches, however, reduce the risk of relapse by allowing an improved “graft-versus-leukemia” response from the donor’s immune system. By taking advantage of the specific HLA-mismatches that can drive an immune response against leukemia cells, relapse after transplant may be reduced for those patients at high risk.

A current clinical trial for refractory and high-risk leukemia patients at UW Carbone Cancer Center (UWCCC) is exploring a new alternative for these patients, a haploidentical, or half-matched, bone marrow transplantation with a clever twist that helps the immune system become more responsive.

Doctors treat patients with an extended course of decitabine to help leukemia cells express more immune-targets, and then transplant the haploidentical bone marrow into patients using a partially-matched family donor selected to improve “graft-versus-leukemia” effects from the immune system.

MD Online uwhealth.org/MDnews MD Online uwhealth.org/MDnews MD Online uwhealth.org/MDnews MD Online uwhealth.org/MDnews MD Online uwhealth.org/MDnews

UW Health’s Pituitary tumor clinic

UW Health’s Lung Transplant Program provides multidisciplinary, research-based care for a wide variety of patients, including those who suffer from cystic fibrosis (CF).

CF patients start at UW Health’s CF Foundation-accredited Cystic Fibrosis Clinic, where they are followed by a pulmonologist. When their lung disease progresses to the severe stage, they are referred to the UW Health Lung Transplant Program. They are assigned to a transplant nurse coordinator, who, along with their pulmonologist, follows them for the life of their transplant.

The team decides whether the disease can be medically managed or if transplant is the best option. Patients being considered for transplant undergo four days of testing in preparation for being placed on the waitlist.

UW Health lung transplant waitlist patients have only a 2.5 percent mortality rate, compared to 12 percent regionally and 11 percent nationally. UW Health CF lung transplant patients have a

one-year survival rate of 94 percent and a three-year survival rate of 82 percent — outcomes that have attracted attention from many other centers.

“We have great success because we have an experienced, harmonious team working together to give our CF patients the best outcome possible,” said Richard Cornwell, MD, UW Health pulmonologist and medical director of the UW Health Lung Transplant Program. “We serve as a referral center for CF patients across the region, primarily because of our great depth of experience.”

The team is involved in an ongoing study on TH17 autoimmunity to type V collagen in heart and lung transplants. “This is a major study on the connection between type V collagen and lung rejection that is going to help many lung transplant patients,” said Mary Francois, lung transplant program manager.

transplant neurology & neurosurgery cancer

lung transplant: successful option for end stage cystic Fibrosis Patients

Learn more online at uwhealth.org/transplant

“One critical element of our Pituitary Tumor Clinic is the discussion among physician specialists to determine the best care management plan for each patient,” said John Kuo, MD, associate professor at UW School of Medicine and Public Health, UW Health neurosurgeon and clinic director.

Accurate diagnosis and treatment decisions can be difficult for pituitary tumors. These tumors are almost always benign, but can have serious neurological and endocrine consequences. Pressure from the tumor can affect the brain, nearby critical cranial nerves and pituitary gland function. They may produce excess hormones, which lead to challenging endocrine syndromes requiring combined surgical, medical and sometimes radiation treatments.

The pituitary team includes specialists from neurosurgery, endocrinology, neuro-ophthalmology, neuroradiology and neuropathology. The team confers to discuss test results, medical and surgical

options, next steps, and most importantly, the effect each option might have on individual patients.

All treatment information is explained in one visit and the multidisciplinary approach ensures that the best solutions are developed and openly considered.

Patients are treated for a wide variety of pituitary tumors including:• Prolactinomas• Acromegaly• Cushing’s disease• Others such as craniopharyngiomas and

meningiomas

To contact the Pituitary Tumor Clinic, call (608) 263-7502 or (800) 323-8942. For emergency referrals and after hours, call the Access Center at (800) 472-0111.

More information at uwhealth.org/MDNewsOther Transplant Story: National Kidney Registry: Linking Lives to Save More Lives

P2Other Orthopedics Story:

Welcome New Providers

A world-class resource for newborns requiring highly complex surgical or medical intervention is now open at UW Health’s American Family Children’s Hospital in Madison. The new Level IV Neonatal Intensive Care Unit (NICU) offers services for premature and full-term neonatal infants requiring the very highest level of care. Typically, such babies are born with complex, multiple medical conditions or may require immediate surgery to survive.

Complementing the care provided by UW Health neonatology physicians, nurses and staff, the Level IV NICU provides optimal healing for the babies and maximum comfort and convenience for the families.

“This NICU is a tremendous resource that allows us to care for the most vulnerable babies and their families during a very challenging time,” said Jamie Limjoco, MD, assistant professor at the UW School of Medicine and Public Health and medical director of the NICU. “This is truly a first for this area and one we are very proud to offer families from across the region.”

Each family’s room is private and includes a reclining rocker, a parental bath and shower, a couch that converts into a sleep bed, baby milk storage and in-hospital access to a family kitchen and laundry facilities.

Other highlights of the NICU include:• “Virtual visiting” allowing families who may still be in

their birthing hospital to see their baby on a screen.

• A state-of-the-art “milk lab” where dedicated milk technicians mix, store and maintain milk for each baby to ensure optimal growth. Milk sources include mother’s breast milk, pasteurized donor breast milk and formula.

• An ultra-quiet environment featuring hallway carpeting and special in-room flooring and ceiling tiles. A quiet atmosphere is optimal for brain development in neonatal infants.

pediatrics

Highly advanced care for Babies at level iV nicU

Learn more online at uwhealth.org/MDNews

Other Pediatric Stories: Pediatric Sedation Program Reduces Anxiety Two New Pediatric Clinics Meet Emerging Needs

Other Cancer Story: WIMR Tower II Grand Opening Update

For more information about this study, call the Access Center at (800) 472-0111.

new cardiac arrest Prevention Program Builds on Years of expertise and research

For approximately 25 percent of people who develop heart disease, their first warning is a cardiac arrest. With a new program launching on November 1, 2014, UW Health specialists are looking to reduce this statistic.

Building on its depth of expertise and resources in cardiac prevention, genetics and arrhythmia research, UW Health offers a Cardiac Arrest Prevention Program. The goal is to investigate any risk of significant cardiac events in patients and their families and reduce the risk of a sudden death or major cardiovascular event.

The program combines expertise dating back to UW Health’s pioneering efforts as the first preventive cardiology program in the country, years of research on causes of sudden cardiac death and its unique multidisciplinary Inherited Arrhythmia Clinic.

Lee Eckhardt, MD, assistant professor at UW School of Medicine and Public Health and clinical cardiac electrophysiologist, said, “When a family member dies unexpectedly or at a young age, families often do not know that they may also be at risk or, are afraid

to ask. More importantly, they may not know where to go to find out.”

Dr. Eckhardt, who co-directs the program and is currently researching the mechanistic basis of genetic/inherited arrhythmia syndromes, feels the new program will cast a wider net to help families affected by genetic cardiac risk factors. The Cardiac Arrest Prevention Program offers patients a starting point. The clinic uses a personalized approach to care, which creates more efficient and effective health care delivery. A team of cardiac specialists, nutritionists, a genetic counselor and exercise physiologists provide care in the clinic.

heart, vascular & thoracic

Other HVT Stories: Thoracic Surgeons Offer Cure for “Sweaty Hands” Syndrome

Adult Congenital Heart Disease: 25 Years, Changes in Care

Read more online at uwhealth.org/MDNews

tissue engineering and regenerative approaches to Wound Healing

To read more, visit uwhealth.org/MDNews