Genetic Testing Web Portal
In 2004, funds were secured from the Collins Medical Trust to strengthen and expand the Geneforum Web portal with an online resource designed to lay an educational foundation for creating a more informed physician-patient discussion of a spectrum of ethical and social issues raised by the application of contemporary genome science to patient care. This project was done in partnership with the Oregon Chapter of the Academy of Family Medicine (OAFP) and the guidance of an educational advisory committee of Portland family physicians and a genetic counselor with hands-on clinical experience.
Titled, "New Tools for Family Physicians: Enabling Informed Decisions About Ethical and Social Issues Raised by Genomic Medicine," the project begins by laying a foundation for better understanding of genetic testing by becoming familiar with GeneTests and some tutorials.
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What is GeneTests?
GeneTests is an online medical genetics information resource developed for physicians, other healthcare providers, and researchers. It is funded by the National Institutes of Health and available at no cost to all interested persons.
Although GeneTests. was initially developed as a resource for genetics professionals, the vast majority of its registered users are not formally trained in genetics and include numerous healthcare providers, most of whom have had a limited exposure to medical genetics.
While GeneTests cannot replace the experience and knowledge of a trained genetic counselor or medical geneticists, it is a great starting point for the primary care physician who may encounter cases involving genomic medicine in his/her daily practice. The site contains information on:
- Genetic disease descriptions (expert authored and peer reviewed)
- Current information on genetic test use in diagnosis, management, genetic counseling
- Links to genomic databases, patient resources, PubMed citations, policy statements and guidelines.
- International directories for clinical research laboratories and genetics and prenatal diagnosis clinics
- Genetic counseling and testing concepts
- An online illustrated glossary of terms
For starters, let's practice navigating GeneTests by reading a couple of their simple backgrounders:
This short tutorial will help you practice locating information on the Genetests.org site about a specific disease.
Let's practice a bit more using the following case study on hemochromatosis. This tutorial will demonstrate how GeneTests.org can be used in a clinical setting.
Disclaimer: This case study is designed to help you navigate the GeneTests site. It is not necessarily meant to serve as a recommendation for how you should address this issue with a real patient.
A 30-year-old female patient appears at your office in Boring, Oregon with a question about hemochromatosis (HHC). She reports that her brother from Chicago has just been diagnosed with HFE-associated hereditary hemochromatosis (HFE-HHC). She is not sure what it is and he is now insisting that everyone in the family be tested. She presents a letter from her brother's doctor that confirms that he has iron overload, diagnosed after an episode of atrial fibrillation. He has undergone the removal of 20 units of blood by phlebotomy and now has a serum ferritin less than 50. His HFE genotype is C282Y/H63D.
Her brother tells her there is a genetic test that will determine who is affected. She is skeptical: he is always overreacting. She reports no symptoms. She has one child, aged 5, who is healthy. Her only medication is an oral contraceptive. A hematocrit 2 years ago was 36. [Source: Genetics in Primary Care, Wylie Burke, Kelly Fryer-Edwards, and Linda E. Pinsky, eds., Sept. 2001]
She wants to know the following:
- What is hemochromatosis?
- What are the symptoms?
- What is her and her child's risk of having the condition?
- Should she get tested?
- Where can she get tested for the condition?
Ethical and Social Issues Raised by Genomic Medicine: the application of the science of genomes, as opposed to genes, to the practice of medicine.
To identify some of the ethical and social issues raised by genomic medicine was the aim of a four-question project-related survey. The ethical questions we're circulated to the project's educational advisory committee members and the project's one genetic counselor.
What is the nature of an ethical framework for making health care decisions?
Using this information, and published frameworks for moral decision making, a Primer for teaching health care ethics, and points to consider about direct-to-consumer online testing a project-related interactive Gene Guide on "Genetic Testing" was created to stimulate online discussion among family physicians and their patients (as well as the general public) on a broad spectrum of ethical and social issues raised by genetic testing.