Joann Bodurtha, M.D., M.P.H.
Joann Bodurtha of the Institute of Genetic
Medicine and Department of Pediatrics
brings together genetics and public health
creating practical ways to make a difference
in the community:
You had been at Virginia Commonwealth University for 28 years, why did you now decide to come to Johns Hopkins?
BODURTHA: I believe at Hopkins I now have the chance to do things that can have broader impacts in health and society. As a geneticist, I’ve observed that genetic conditions don’t depend on socioeconomic status, and as a society we haven’t always figured out how to bring genetic medicine to all who might benefit. But, I get the sense that Hopkins is grappling with these issues and trying to bring the benefits of genetic medicine to those in the surrounding community, as well as be an international leader. I want to contribute to the aims of the team here. I have a master’s in public health, and one of my professional goals has been to use genetics to try to help people in real life, at the family, community and population levels.
How do you go about bringing genetic medicine to everyone?
BODURTHA: Mostly I do this through my research, training of new professionals and collaborations with families and agencies. I am continuing to work on a research project with the Ob-Gyn department’s woman’s health clinic at VCU. Less than half of the patients there are insured and many of them are of diverse backgrounds with low income. As we have worked with these patients, we began to realize that many of them didn’t know their family medical history and didn’t feel comfortable talking with their families about health issues We started a study with 500 participants, where we teach half the participants how to talk within their families about cancer by taking a family history and opening up the dialogue. We record the family histories for those who get the intervention. We use a computer program to calculate what their risk is for developing breast and colon cancers and teach them about cancer prevention and the kind of screening that’s available. The participants are followed up at one month, 6 months and 14 months to see what’s happened with communication within their family and whether this has improved their rates of getting screened.
Long-term I would like to develop ways of keeping patient’s family history up-to-date as it changes over the years. We’ve even worked with a medical records company to develop a family history tool that allows patients to enter their family history from home. I hope we can work with Hopkins’ new medical record program to integrate family history into improved prevention and care.
As a medical geneticist you see patients from “womb to tomb,” rather than seeing only pediatric or adult patients. Why do you operate this way?
BODURTHA: Even though my specialties are in pediatrics and genetics, I am always thinking of the lifespan as a geneticist. Genetic conditions present themselves in different ways over the lifespan. As a geneticist you can’t limit yourself to thinking only in age categories, even if clinics are set up by age.
For instance, there is a condition that causes cognitive impairment in boys, fragile X syndrome. The mothers of boys with fragile X often go through menopause in their early 30s and the grandfather who carries the “pre-mutation” (genetic susceptibility) may develop a tremor ataxia syndrome. I’ve made a diagnosis in a boy, and it explained the mother and grandfather’s symptoms. This saved many thousands of dollars of further testing to figure out what was happening with the other family members.
How did you decide to be a geneticist?
BODURTHA: In college I thought I was going to be a mathematician, but after an experience working in a quiet math lab, I decided I was too social for math. Then, I decided that I wanted to be a pediatrician and go to medical school.
One of the first experiences I had at Yale Medical School was going to the phenylketonuria (PKU) support group. PKU is a genetic condition in which the patient can’t break down the amino acid phenylalanine, which builds up and causes brain damage unless the diet is modified. There was a father who always brought his very cognitively impaired son to the parent support group. For the most part it was all these happy families having fun together and his son would stand off not participating, doing repetitive behaviors. I asked the father why he came if his son wasn’t able to participate. He told me his son was born a month before PKU newborn screening started. Coming to the support group was his way of letting everyone know the impact of newborn screening and to reinforce among the other families just how important it was to stay on the diet since his son was living evidence of what happened if the diet wasn’t started in infancy and followed. I didn’t know I was going to be a geneticist then, but that was a very compelling experience for me.
My top mentors and teachers have been geneticists, and it was the combination of using math and science to deliver patient care that appealed to me. In my last year of medical school, I did a genetics rotation at the National Institutes of Health. Each week, two geneticists drove us to the McKusick genetics clinic at Hopkins. Today I am coming to the same weekly conference room I came to more than 30 years ago. A geneticist is always a student of new scientific discoveries and applications to improve health.
--Interviewed by Vanessa McMains
Joann Bodurtha on family communication of cancer risk: