A Guide to Navigating Genetic Testing

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May 23, 2012

As genetic testing becomes more available, the personal choices that accompany access to this information about ourselves become increasingly difficult. For many, knowing one's genetic makeup holds the reward of providing vital information for taking care of one's own health. For instance, some genetic tests (known as pharmacogenetic tests) can help determine how a person will respond to a particular medication, minimizing unnecessary trial and error. But there are challenges, too. Should you start a family with the knowledge that you may pass along an inherited disease? Should your genetic map be available to others, such as employers or insurers? And how might you live life differently if you knew a terminal disease was probably in your future?

These questions and concepts are explored in several articles on Lab Tests Online and in the PBS NOVA program "Cracking Your Genetic Code." These are included in the table below, along with a number of other web resources that are available to help you better understand genetic testing.

Name of Resource* (e.g., web site)
Title & Description
Lab Tests Online Universe of Genetic Testing
This article discusses genetic testing, that is, testing that looks at a person's genetic makeup for a variety of reasons. An increasing number of genetic tests are becoming available as a result of recent and rapid advances in biomedical research.

Pharmacogenetic Tests
This emerging area of testing allows doctors to test people prior to starting a drug therapy, thereby determining a patient’s likely response to different classes of drugs. It offers the opportunity to individualize drug therapy based on a person’s unique genetic make-up. (Note: not all drugs qualify for pharmacogenetic testing, nor is testing required before taking a drug.)

PBS NOVA “Cracking Your Genetic Code”
53-minute program that examines the scientific breakthroughs as well as the personal risks and rewards of genetic testing.

In addition to specific patients' stories, "Cracking Your Genetic Code" describes some of the non-medical, but equally challenging, questions about understanding our genetic make-up. Will we want to know if our genes make it likely that we will develop a life-threatening or debilitating disease? Will we want to tell others?

The National Human Genome Research Institute Genetics and Genomics for Patients and the Public
Offers detailed information about genetic disorders, background information on genetic and genomic science, pharmacogenomics, tools to create family health histories, and a list of online health resources.

Talking Glossary of Genetic Terms

Genetics Home Reference A guide to understanding genetic conditions from the U.S. National Library of Medicine (NLM) that provides consumer-friendly information about the effects of genetic variations on human health; includes a Glossary and list of resources.
GeneTests Publicly-funded site offering expert-authored disease reviews and international directories of genetic testing laboratories and diagnostic clinics as well as educational materials.
Human Genome Project The U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health to identify all genes in human DNA and address the many ethical, legal and social issues that could arise from this project. The web site continues to offer information on many aspects of genetics.
Genetic Science Learning Center The Genetic Science Learning Center is an education program from the University of Utah. Its mission is to make science easy for everyone to understand.

To achieve this mission, it provides educational materials and programs for global and local audiences, including:

  • Learn.Genetics - educational materials on genetics, bioscience and health topics
  • Teach.Genetics - resources for K-12 teachers, higher education faculty, and public educators that support and extend the materials on Learn.Genetics.
National Society of Genetic Counselors Provides information on genetic counselors, including how to find one and how these professionals can help you and your family

*These resources should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified health care professional.