Tutorial 2: Using GeneTests.org to find answers

Case study

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 as a serum ferritin <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's 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.

She wants to know the following:

  1. What is hemochromatosis?
  2. What are the symptoms?
  3. What is her and her child's risk of having the condition?
  4. Should she get tested?
  5. Where can she get tested for the condition?

Finding the answers

The answers to your patient's questions can be found in the GeneReview for HFC-HHC. Refer to Tutorial 1 for instructions on locating the GeneReview for HFC-HHC.

Figure 9. GeneReview for "HFE-Associated Hereditary Hemochromatosis (HFE-HHC)"

This is where you will find answers to her questions.

Figure 10. Left-column navigation

You can quickly scroll the page by using the left column navigation. Click "Summary" to scroll to the GeneReview Summary.

"What is hemochromatosis?"

A description of hemochromatosis can be found in the Summary. As a rule, it is a good idea to browse to Summary section first as it generally can quickly answer many top-level patient questions.

Figure 11. Summary

"What are the symptoms?"

Symptoms are detailed in the Diagnosis section.

Figure 12. Diagnosis

"What is her and her child’s risk of having the condition?"

Scroll to "Genetic Counseling" to find risk to family members.

Figure 13. Genetic Counseling - Risk to Family Members

"Should she get tested? Should her child?"

Within the Genetic Counseling section, scroll to Related Genetic Counseling.

Figure 14. Genetic Counseling - Related Genetic Counseling Issues

Where can she get tested?

Return to "Diagnosis" and scroll to "Table 1." Click the Clinical Testing button.

Figure 15. Table 1 showing "Test Availability"

You might have to scroll horizontally to find the Clinical Testing button inside Table 1.

You will be presented with a list of clinics that test for HFC-HHC. Use your Web browser's "find" function to locate a clinic in Oregon.

Figure 16. Using browser "find" function

Figure 17. Oregon Health and Science University page

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