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Road to discovery
All in the family
More than 2,500 families with genetic concerns enter the busy clinic at the Virginia Commonwealth University Medical Center each year. Here, Joann Bodurtha, M.D., M.P.H., director of clinical genetics and a professor of genetics in VCU’s School of Medicine, and her colleagues play the role of interpreter by demystifying the science of genetics and showing families that genes are about susceptibility, not destiny. She arms them with knowledge to take charge of their health.
In addition to being a dedicated clinician and educator, Bodurtha is active on the research front and in the past 15 years has been responsible for VCU grant funding totaling more than $12 million.
She collaborates and consults with the Centers for Disease Control and Prevention and the Virginia Department of Health to enhance the statewide birth defects registry by examining patterns of birth defects occurring within the commonwealth. Through funding from the March of Dimes, she is involved in developing a state genetics education plan that follows a three-year project that assessed needs for genetic services and education.
In a National Cancer Institute-supported study, Bodurtha’s team has examined how best to integrate information about a woman’s family history of breast cancer risk into routine gynecological visits. The ultimate goal of the project is to determine whether providing tailored risk messages makes a difference in the women’s use of breast cancer preventive health practices.
Additionally, Bodurtha and her colleagues are in the 14th year of the Virginia Leadership in Education in Neurodevelopmental Disabilities, Va-Lend, program training grant and recently earned a sub-grant called SYNERGY. Va-LEND is directed at training future leaders in health and related disciplines, while SYNERGY supports genetic counselor training related to the care and health of children with disabilities. Va-LEND is a program of the VCU Partnership for People with Disabilities and the VCU schools of Medicine, Nursing, Dentistry, Allied Health, Education and Social Work and the College of Humanities and Sciences.
Through a grant from the Bureau of Maternal and Child Health, Bodurtha and her team are involved in a project to promote awareness of participation in safe, effective, evidence-based research among health care leaders, providers and families of children with neurodevelopmental disabilities, autism spectrum disorders and genetic conditions.
“VCU is launching major translational research initiatives and this grant will help clinicians, educators and students improve their skills in talking with families about research,” said Bodurtha, who is the director of Va-LEND and primary investigator for this project.
“Understanding more about research can help families sort out the wide range of therapies that they may be offered or hear about. Participation in research can be one avenue families may choose to help understanding of their children’s condition and ultimately their care,” she said.
They will develop a training module and video component for health care providers and trainees in the Va-LEND program to educate families about the benefits and barriers to scientific research that could help the health and educational development of children.
Collaborating with Bodurtha are Donald Oswald, Ph.D., associate chair for child psychology, a division of Clinical Psychology in the VCU Department of Psychiatry, project director for this grant and core faculty member in the Va-LEND program; and Julie Quillin, project coordinator.
In addition to support from VCU and Va-LEND, collaboration will also take place through the Faison School – Autism Center of Virginia, the Association of University Centers on Disabilities, the National Center for Health Professionals in Genetics, The Autism Program at the Yale Child Study Center, Commonwealth Autism Services and Parent to Parent of Virginia.
“Through these various projects, we’ve been able to connect families with other families and direct people into appropriate preventive care,” Bodurtha said. “We hope every Virginia family will review their family history — talk it up, write it down and pass it on. Integrating genetic understanding, including new discoveries in health care can save and improve lives.”
In the clinic
By examining patterns of genetic conditions among relatives, Bodurtha and a team of doctors and genetic counselors work to determine whether an individual, other family members or future generations may be at an increased risk of developing a particular condition, such as heart disease, Alzheimer’s, diabetes or cancer.
“We are all products of genes, the environment and nurture. Each of these factors can give clues to medical conditions that may run in a family,” said Bodurtha.
“Having an understanding of your basic genetics is a powerful tool. Using this knowledge intelligently allows you to make healthy choices and helps determine preventive and advanced diagnostic medical options.”
VCU offers lifespan services in genetics from preconception screening and prenatal diagnosis to collaboration in newborn screening follow-up, birth defects, child and adult genetic issues and familial cancer.