MAR 22, 2016 7:00 AM PDT

From History to Action

C.E. Credits: CE CEU
  • Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
      Dr. Korf is the Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics.
      He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics and Genomics (clinical genetics, clinical cytogenetics, and clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, the Alabama Genomic Health Initiative, and the Southern All of Us Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook (now in third edition), Emery and Rimoin's Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.

    Family history can be viewed as the first stop in the assessment of genetic risks for any individual. For many genetic disorders there will be no obvious signs of symptoms until significant medical problems surface, so family history may be the only way to identify individuals at risk. This in turn can lead to a program of surveillance and management to mitigate the effects of the condition. Although the gold standard is a three-generation pedigree, many patients will not have all of the relevant information at their fingertips at the time of a clinic visit, and eliciting a full pedigree can be time-consuming; nevertheless, a set of pointed questions can identify risk for some of the more common conditions for which genetic testing is available. These include disorders that lead to an increased risk of cancer, sudden death due to cardiac dysfunction, hyperlipidemia, adverse drug reactions, and others. Recognition of the major patterns of genetic transmission, i.e., dominant and recessive, autosomal and sex-linked can reveal individuals and family members at risk who may benefit from genetic testing. Genetic testing itself is a process, beginning with recognizing the most appropriate test, explaining the risks, benefits, and limitations of testing to the patient, selecting an appropriate laboratory, and organizing testing with the laboratory. In some cases, this may be done by a non-genetic specialist, whereas in others the complexity of ordering and interpreting tests warrants involvement of a genetics specialist. In either case, the clinician needs to be prepared to help interpret the results in light of the family history and clinical presentation and to support the patient in future management and decision-making. Genetic test results may also have implications for other family members, which also need to be factored into pre- and post-test counseling.

    Show Resources
    Show Resources
    • See more