December 02, 2015

UAB Medicine’s Undiagnosed Diseases Program expands with genomics clinic at Children’s of Alabama

Written by
bruce korf sizedThe University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.

Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.

“Expansion into Children’s will allow us to reach more families who have been living with a condition — sometimes for many years — that they could not understand or put a name to,” said Bruce Korf, M.D., Ph.D., chair of the UAB Department of Genetics and director of the UAB Undiagnosed Diseases Program. “With the advanced tools at our disposal, and an approach that stresses teamwork, critical thinking, consultation and contemplation, in many cases we can provide beneficial information for families who are searching for answers.”

Previously, the UDP saw both adults and children at the genetics clinic in the Kaul Genetics Building on the UAB campus. The Children’s of Alabama clinic location will provide easier access for families with affected children, helping to provide a seamless continuity of care.

“Children's of Alabama is pleased to be a part of this exciting collaborative that holds such promise for the future of pediatric health care,” said Mike Warren, president and CEO of Children’s of Alabama.

Since the program’s inception in 2013, the UDP team has seen more than 100 patients. A diagnosis was made in about two-thirds of those cases with a complete evaluation.

“We’ve had some very gratifying successes,” Korf said. “We have made a diagnosis in one family that completely changed the way several affected children are treated. In other cases, the UDP has produced a diagnosis for conditions that have stymied referring physicians and their patients for years.”

hudson alpha workersWhole genome sequencing for the UAB, Children's and HudsonAlpha clinics is performed at the HudsonAlpha Institute of Biotechnology in Huntsville.The clinics at UAB and Children’s are run in collaboration with a new genomics clinic at HudsonAlpha in Huntsville, which also conducts whole genome sequencing for the UAB program.

“The collaboration between UAB, Children’s and HudsonAlpha brings together the leading institutions in Alabama in the fields of genetics and genomics, along with unsurpassed patient care, cutting-edge technology, and a wealth of individuals with the experience and training to use that technology,” said Selwyn M. Vickers, M.D., senior vice president for Medicine and dean of the UAB School of Medicine. “In many cases, the UDP can truly make a difference for those who have struggled over the years with the frustration of not knowing what was wrong, and not knowing where to turn.”

“These three collaborative clinics put Alabama at the forefront of genomic medicine and greatly enhance our ability not only to diagnose and treat patients here, but also to demonstrate the value of personalized medicine to a global audience,” said Howard J. Jacob, PhD, executive vice president for genomic medicine at HudsonAlpha and chief medical genomics officer at the Smith Family Clinic for Genomic Medicine.

For some patients, a diagnosis means a chance to receive appropriate medications or other therapy. For others, the knowledge might simply provide an indication of what to prepare for in the future. Even for those for whom there is no therapy, getting a diagnosis — getting answers — can be comforting.

The UDP team, led by Korf, Maria Descartes, M.D., professor of genetics, and Martin Rodriguez, M.D., associate professor of medicine, includes a designated certified genetic counselor and two nurse practitioners. Physicians from various subspecialties, in such areas as radiology, rheumatology and neurology, serve as consultants and provide their expertise as needed.

Patients must be referred to the UAB UDP by their primary care physician or a physician providing ongoing care for the condition under evaluation.  Those enrolled into the program typically undergo sequencing of their genome as part of the evaluation process. Genetic testing will be available to family members when appropriate, along with genetic counseling.

“This is a concentrated effort to uncover a diagnosis and bring about effective treatment,” Korf said. “Insights gained during evaluation of a single patient may benefit those presently affected by such conditions and have the potential to benefit future generations of patients, while advancing medical and scientific knowledge as a whole.”

Clinically-validated whole genome sequencing for all three clinics is performed at the HudsonAlpha Clinical Services Lab.