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Gene Gateway Genetic Disorders Guide

The Human Genome Project (HGP), sponsored in the United States by the Department of Energy and the National Institutes of Health, has created the field of genomics --understanding genetic material on a large scale. The medical industry is building upon the knowledge, resources, and technologies emanating from the HGP to further understanding of genetic contributions to human health. As a result of this expansion of genomics into human health applications, the field of genomic medicine was born. Genetics is playing an increasingly important role in the diagnosis, monitoring, and treatment of diseases.

Diagnosing and Predicting Disease and Disease Susceptibility
All diseases have a genetic component, whether inherited or resulting from the body's response to environmental stresses like viruses or toxins. The successes of the HGP have even enabled researchers to pinpoint errors in genes--the smallest units of heredity--that cause or contribute to disease. 

The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent the thousands of diseases that afflict humankind. But the road from gene identification to effective treatments is long and fraught with challenges. In the meantime, biotechnology companies are racing ahead with commercialization by designing diagnostic tests to detect errant genes in people suspected of having particular diseases or of being at risk for developing them. 

An increasing number of gene tests are becoming available commercially, although the scientific community continues to debate the best way to deliver them to the public and medical communities that are often unaware of their scientific and social implications. While some of these tests have greatly improved and even saved lives, scientists remain unsure of how to interpret many of them. Also, patients taking the tests face significant risks of jeopardizing their employment or insurance status*. And because genetic information is shared, these risks can extend beyond them to their family members as well. 

*Passing of the 2008 Genetic Information Nondescrimination Act should protect against such discrimination. May 2008.

Disease Intervention
Explorations into the function of each human gene--a major challenge extending far into the 21st century --will shed light on how faulty genes play a role in disease causation. With this knowledge, commercial efforts are shifting away from diagnostics and toward developing a new generation of therapeutics based on genes. Drug design is being revolutionized as researchers create new classes of medicines based on a reasoned approach to the use of information on gene sequence and protein structure function rather than the traditional trial-and-error method. Drugs targeted to specific sites in the body promise to have fewer side effects than many of today's medicines. 

The potential for using genes themselves to treat disease--gene therapy--is the most exciting application of DNA science. It has captured the imaginations of the public and the biomedical community for good reason. This rapidly developing field holds great potential for treating or even curing genetic and acquired diseases, using normal genes to replace or supplement a defective gene or to bolster immunity to disease (e.g., by adding a gene that suppresses tumor growth).

See an article that speculates about how genetic advances sparked by the Human Genome Project may affect the practice of medicine in the next 20 years.

For More, See the Webpages in this Medical Genetics Suite

• Gene Testing
• Gene Therapy
• Pharmacogenomics
• Genetic Counseling
• Disease Specific Information

• CME Web
• Alliance for CME
• Medscape CME
• Online CME Sites
• Harvard Medical School CME
• CME Activities American College of Medical Genetics
• Implementing Genetics in Clinical Practice (from GlaxoSmithKline)
• Genomics and Disease Prevention: Training and Education from the Centers for Disease Control
• University of Minnesota Medical School CME --including distance learning
• Core Competencies in Genetics Essential for All Health-Care Professionals (PDF)
• The New Genetics™: Medicine and the Human Genome--a CD-ROM course for physicians produced by Twisted Ladder Media
• National Coalition for Health Professional Education in Genetics (NCHPEG). See a related Human Genome News article on NCHPEG.
• Frontiers in Clinical Genetics --an online genetics lecture series of the George Washington University Medical Center
• Washington State Genetics Documents --report on incorporating genetic services into managed care health plans
• Genetics and Your Practice --A comprehensive curriculum for physicians and other health and social service providers.
• Clinical Genetics: A Self Study for Health Care Providers --online from the Virtual Children's Hospital of the University of South Dakota Medical School
• Core Educational Guidelines in Medical Genetics for family practice residents from the American Academy of Family Physicians
• Case Studies
  • Kim Davis - Can A Genetic Disease Be Cured? A Mother's Dilemma
  • Directed Case Study: The Death of Baby Pierre - A Genetic Mystery

Publications, Multimedia, and Newsletters

• Publications
  • Your Genes, Your Choices --a downloadable booklet describing the Human Genome Project, the science behind it, and the ethical, legal, and social issues raised by the project

• Books
  • Stuart M. Brown, Essentials of Medical Genomics (John Wiley & Sons, Inc., 2003) --geared to medical students and doctors
  • Mark A. Rothstein, ed., Pharmacogenomics: Ethical, Legal, and Clinical Dimensions (John Wiley & Sons, Inc., 2003) --implications of using genomic technologies to assess differential response to pharmaceuticals
  • Genetics and Public Health in the 21st Century (2000) --delineates a framework for the integration of advances in human genetics into public health practice
  • Toward the 21st Century: Incorporating Genetics into Primary Health Care (1998)
  • Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era (1997)
  • Genetics and You (1996) --explains in layman's terms the genetic principles that underlie genetic disorders

• Multimedia
  • A Question of Genes: Inherited Risks --PBS video clip and website examining the social, ethical, and emotional consequences of genetic testing for individuals and families. Includes background information, discussion guides, and other resources.
  • Genetic Testing for Breast Cancer Risk: It's Your Choice-- educational material from the National Action Plan on Breast Cancer (NAPBC)

• Newsletters
  • Human Genome News --the newsletter of the HGP sponsored by the U.S. Department of Energy Biological and Environmental Research Program
  • Genetic Drift Online -- newsletter covering genetic topics of interest. Published by the Mountain States Genetics Network.

• Brochures
  • Medicines for You --NIH NIGMS brochure about personalized medicine
  • Medicines for You (Spanish)--NIH NIGMS brochure about personalized medicine
  • Genetics: The Future of Medicine --NIH NHGRI booklet about genomic medicine
    
• Other
  • John I. Bell, "The Double Helix in Clinical Practice," Nature 421, 414-16 (January 23, 2003).
  • Fast Forward to 2020: What to Expect in Molecular Medicine --an article from online magazine TNTY Futures
  • The Human Genome Project: What it Means for You --an article from The Doctor Will See You Now Web site
  • The Privacy of Genetic Information --an article from The Doctor Will See You Now Web site
  • Emerging Issue: The Privacy of Medical Records --an article from The Doctor Will See You Now Web site
  • The Human Genome Project and the Future of Diagnostics, Treatment, and Prevention --an article from the Lancet
  • The New Genetics in Clinical Practice--a British Medical Journal article
  • Science, Medicine, and the Future: Microbial Genome Sequencing--a British Medical Journal article
  • Medical School Core Curriculum in Genetics--A Report from the American Society of Human Genetics Information and Education Committee (PDF)
  • Results of Human Genome Research Will Challenge, Help Family Physicians --an article from the American Academy of Family Physicians FP Report

Professional Societies and Regional Resources

• Genetic Societies list
• Genetic Alliance
• March of Dimes
• American Society of Clinical Oncology
• American Medical Association
• American Society of Human Genetics
• National Society of Genetic Counselors
• American Board of Genetic Counseling
• American Society of Gene Therapy
• American Board of Medical Genetics
• International Society of Nurses in Genetics
• American College of Medical Genetics
• Genetics Society of America
• Massachusetts Medical Society Online --from the publishers of the New England Journal of Medicine

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