Bryson Distinguished Professor
Cancer Genetics Program
Area of interest
My major clinical interests lie within the field of cancer and adult genetics. Toward this end I direct the Clinical Cancer Genetics Services at the University of North Carolina. In the Cancer Genetic Clinic we evaluate and counsel patients who are perceived to be at high risk for cancer by virtue of their family history. This comprehensive clinic provides evaluation, counseling and risk assessment through pedigree analysis and genetic testing when appropriate.
The clinic has grown substantially since its inception 15 years ago. We now see, on average, approximately 30 patients per week in consultation. We counsel individuals with respect to their risk of cancer and appropriate medical interventions and management options. While breast/ovarian cancer comprises the bulk of our activity, we see numerous patients with elevated risk for a great variety of different malignancies.
Genetic testing is performed both in-house and sent to outside laboratories when appropriate.
I also direct the Bryson Center for Human Genetics. This center seeks to integrate basic science investigation with clinical care. Part of this effort is a campus-wide “Biospecimen Processing facility” which serves to collect DNA samples and clinical information from a broad array of investigators in order to gain maximal amounts of information from genetic studies, facilitate such studies, and protect subjects of research.
My major research interest is how to utilize powerful new DNA sequencing methods to diagnose genetic disorders ranging from cancer and cardiology conditions to developmental abnormalities and neurological disease. I am also involved in pharmacogenomic studies and the use of next-generation sequencing technologies to identify novel cancer-related genes. I have published about these topics in journals including The New England Journal of Medicine, Science, Nature, the Journal of the American Medical Association and others.
I am also interested in how individuals perceive and use genetic information, their attitudes towards genetic testing and how to incorporate genetic information into medical care.
Finally, I have long been active in the policy arena. I have served as an advisor to the Secretary of Health and Human Services as a member of The Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS), spoken to the US Presidential Commission on Bioethics and testified before the US Congress regarding the regulation of genetic tests . I have been very active in policy surrounding gene patents, heading up a Federal task force looking into their impact on patients.
I regularly serve as a consultant and educator to the international and US judiciary, teaching high-court judges about issues of science, medicine and genetics.
Awards and Honors
I am Editor-in-Chief of Genetics in Medicine, the official journal of the American College of Medical Genetics.
I served for 5 years on the advisory committee to the US Secretary of Health and Human Services regarding issues related to Genetics, Health and Society.
I am a senior scientific advisor to ASTAR, the Advanced Science and Technology Adjudication Resource. ASTAR is a US Congressionally mandated organization charged with educating the US judiciary about science and technology. Several thousand high court judges (at the federal level in the US and at the Supreme Court level internationally) have been educated through this effort in matters of genetics and biotechnology.
In 2004 I helped to organize a United Nations conference in Concepcion Chile that addressed trans-national discrepancies in the development and application of biotechnology.
I recently testified before the US Congress regarding direct-to-consumer genetic testing.
In July of 2008 I was profiled in The New York Times with a focus on my judicial education activities.
In 2010 I spoke to the US Presidential Commission on Bioethics regarding genetic testing