Bruce Korf, M.D., Ph.D., is a nationally recognized leader in human genetics and internationally regarded as a leading authority in the neurodevelopmental disorder neurofibromatosis — genetic disorders of the nervous system that primarily affect the development and growth of nerve-cell tissues.

Bruce Korf recently began a two-year term as president of The American College of Medical Genetics, the national organization for medical genetics professionals.

The ACMG advances the practice of medical genetics by providing education, resources and a voice for more than 1,400 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health-care professionals committed to the practice of medical genetics.

Korf spoke to the UAB Reporter about his new position as president of the ACMG, UAB’s role in genetics research and how the Human Genome Project has transformed genetics research.

Q. How has the completion of the Human Genome Project in 2003 changed the face of genetics research?
A.  Advances in human genetics — especially the sequencing of the genome — have put powerful new tools in the hands of geneticists. One major outcome is that the focus of genetics research has expanded from rare disorders due to changes in individual genes to more common conditions due to a complex interplay of multiple genes and environmental factors. This offers the promise of new approaches to prevention, diagnosis and treatment of both rare and common disorders and extends the reach of genetics into day-to-day medical practice.

Q. Is there a greater likelihood that a cure for conditions such as cancer, SARS or obesity will now be found?
A. We are a long way from cures for many of these common disorders, but understanding the genetic contributions is a major step forward. From this research we are formulating an understanding of the biological mechanisms of disease. This, in turn, suggests new avenues for treatment, whether by designing new drug therapies or treatments involving gene replacement or stem cell-based approaches.

Q. How is power of genomics being used to improve health?
A.  There are many examples in the areas of prevention diagnosis and treatment. A major new development in prevention is the standardization of the panel of tests offered for screening newborns for inborn errors of metabolism. In the area of diagnosis, there are now genetic tests for more than a thousand disorders, and new technologies now permit whole genome analysis for deletions or duplications of DNA. In treatment, we are seeing new approaches to enzyme replacement and clinical trials of new medications for genetic disorders. Testing for genetic variation in drug metabolism to customize dosage of a medication to individual patterns of metabolism also is becoming routine in some cases. 

Q. What obstacles have been created as a result of the Human Genome Project?
A.  Genetic studies are perceived by many to be touching on sensitive issues, including relationships within a family. It also raises concerns about new forms of discrimination based on genetic make-up. Investigators and clinicians need to be aware of these issues and to take care to preserve individual rights and privacy. Federal legislation prohibits discrimination in health-insurance coverage and employment based on genetic testing or family history. It is hoped that this, together with state laws, will go a long way toward reassuring the public about genetic research and testing.

Q. What role does the ACMG play in guiding public perception and policy?
A.  The American College of Medical Genetics has an active education and public affairs program that includes issuing policy and position statements on many issues of national importance. An example is a statement on direct-to-consumer genetic testing that was issued in the past year in response to a growing number of companies that offer such testing. The statement emphasized the importance of involving a qualified health professional in the ordering and interpretation of genetic tests. Genetics is a very rapidly moving field, and the ACMG can play a major role in helping to sort out the claims that are appearing in the press and in advertisements.

Q. How does the ACMG help treat, prevent genetic diseases?
A. One major initiative in recent years has been expansion and standardization of the newborn screening panel. Before this, newborns in some states were screened for disorders and provided treatment that avoided a devastating outcome; however, those born in other states were not diagnosed until severe neurological damage was done. This no longer is the case, thanks, in large part, to efforts of the ACMG. We are now organizing, with federal grant support, a network of clinical and translational research centers around the country for these and other genetic disorders that will increase the rate of development and testing of new approaches and make them more accessible. We also issue practice guidelines that will help ensure the highest quality of care for individuals who have or are at risk for genetic disorders.

Q. What are your goals for the ACMG during your tenure?
A.   I have three major goals.  One is to increase the engagement of ACMG members, to get them involved, for example, in the formulation of practice guidelines and policy statements. We recently have revised the governance procedures, and that should make it easier for members to participate in its committees.

Second, increase the training pipeline. Given the exciting advances in genetic and genomic research, the workforce in genetics is not as large as it needs to be. We will be working at multiple levels, including medical schools and residency programs, to encourage more people to join the field and to educate our medical colleagues about when and how to use genetic resources in patient care. Third, we will increase our advocacy activities to promote the integration of genetics into medical practice.

Q. What unique areas of genetic research are UAB researchers pursuing?
A. Researchers at UAB, both in Genetics and in other schools and departments, are engaged in genetic research at multiple levels. This includes efforts to discover genes involved in rare and common disorders and to study how these genes interact with one another and with the environment to influence risk of disease.

There also are efforts under way to develop and test new diagnostic approaches and treatment strategies. Our goal is to develop and deploy genetic approaches that will help UAB be a leader in the new era of personalized medicine.