Genomics Learning to Read the Instruction Manual SIGnatures
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SIGnatures  |   April 01, 2003
Genomics
Author Notes
  • Jill L. Elfenbein, is coordinator of ASHA’s Special Interest Division 7, Aural Rehabilitation and Its Instrumentation. She is an associate professor in the Department of Audiology and Speech Sciences at Michigan State University. Contact her by e-mail at jillelf@msu.edu.
    Jill L. Elfenbein, is coordinator of ASHA’s Special Interest Division 7, Aural Rehabilitation and Its Instrumentation. She is an associate professor in the Department of Audiology and Speech Sciences at Michigan State University. Contact her by e-mail at jillelf@msu.edu.×
Article Information
Special Populations / Genetic & Congenital Disorders / Attention, Memory & Executive Functions / SIGnatures
SIGnatures   |   April 01, 2003
Genomics
The ASHA Leader, April 2003, Vol. 8, 26-27. doi:10.1044/leader.SIGN.08062003.26
The ASHA Leader, April 2003, Vol. 8, 26-27. doi:10.1044/leader.SIGN.08062003.26
Just a few years ago, Time magazine declared, “Genetics—The future is now.” Population screening for gene mutations, tailoring pharmaceuticals to meet our individual needs, and gene therapy were all highlighted, not just as possibilities, but as probabilities in this new era.
This spring, identification of the DNA sequence for humans—the human genome—nears completion. It is at once the end of a great task and the foundation for an even greater challenge. We have opened our instruction manual; now we must learn to read it.
Over several decades, preventive medicine has decreased the contribution of infectious agents, such as rubella, to our caseloads. As a result, the percentage of individuals whose hearing-loss etiologies have a genetic component has grown. We all see patients/clients/students for whom a gene mutation, a combination of gene mutations, or the interaction of a gene mutation and environmental factors is the cause of hearing loss. In many instances, the contribution of the genetic component is, at least partially, understood; in others, we have yet to even identify the presence of a genetic component. That instruction manual will need to be on all our reading lists.
If you thumb through recent issues of the New England Journal of Medicine, you will discover a new section—Genomic Medicine—edited by Alan Guttmacher and Francis Collins from the National Human Genome Research Institute of the National Institutes of Health. Genomics, they tell us, refers to the study of the functions and interactions of all the genes in our genome.
Genomic Medicine contains review articles that provide an introduction to a wide variety of topics. Although the focus is not on audiology, the material is well worth the trip to the library. If it has been awhile since you have done some reading in this area, I suggest that you begin with “Genomic Medicine—A Primer” in the Nov. 7, 2002 issue and “Genetic Testing” in the Dec. 5, 2002 issue.
If you are looking for information with direct application to specific disorders, then the GeneTests-GeneClinics Web site at http://www.geneclinics.org/ is a good place to visit. The editor-in-chief of this site is Roberta Pagon from the University of Washington. The site targets a wide range of health care providers and includes disease-specific review articles, lab and clinic directories, and educational materials.
If hearing loss is your primary interest, then the Hereditary Hearing Loss Homepage at http://webhost.ua.ac.be/hhh/ offers you the most up-to-date information about genetics research. This site, authored by Guy Van Camp from the University of Antwerp and Richard Smith from the University of Iowa, targets researchers and clinicians with interests in hereditary hearing loss. You will find not only a listing of gene mutations and papers about them, but also a news highlights section that will direct you to recent articles, upcoming meetings, and a variety of databases.
We have entered an era in which our knowledge of genetics and the genetic etiologies of communication disorders will have an expanding influence on aspects of our clinical practice ranging from taking a case history to counseling. Perhaps some day soon we will see Genomic Audiology as an ASHA Convention topic area.
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April 2003
Volume 8, Issue 6