Research Projects to find the VHL Gene

This information is for people who participated in research projects between 1977 and 1993, and who are hoping to obtain useful results from that testing.

(There are no current research projects in the United States offering DNA testing for free.)

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DNA Testing for von Hippel-Lindau

DNA Testing is one of the most frequent questions we receive these days. Since it is such a popular topic, we have prepared this information sheet to give you background on this subject. If you have additional questions, don't hesitate to contact us at 800-767-4VHL, 800-767-4845, or by fax to 858-712-8712, or via email to info@vhl.org

Research versus Clinical "Production" Testing

There are two kinds of laboratories: research labs and clinical production testing labs. A production testing lab is like the one your doctor sends your routine blood and urine samples to, with the exception that in the case of DNA testing it takes a laboratory with special knowledge and equipment, and with special "DNA probes" which can be used to check for mutations in the VHL gene itself.

There are now a growing number of production laboratories in the world equipped to do DNA testing for the VHL gene. A production lab is set up to receive samples for testing, apply the tests, and return the results to the doctor in a short and predictable period of time, with a report which the doctor can discuss with you.

You may have heard of research labs which collected samples and worked to identify the VHL gene. The two most prominent of these were at Harvard University/Massachusetts General Hospital under Dr. Berndt Seizinger, and at the National Cancer Institute under Dr. Berton Zbar.

A research laboratory is an experimental environment where samples are collected only when they are needed to further the research. Results can take years -- finding the mutation in the gene of the Hawaii family took a total of twenty-five years. Research labs do the work that makes the "production" work possible, and then they go on to the next project and turn over the day-to-day work to the "production" labs like that at the Children's Hospital of Pennsylvania or Johns Hopkins.

With DNA testing comes a lot of conversation, helping to determine how best to get the information needed to test a particular individual, and then interpretation of the results. It is best to have a geneticist near you to hold those conversations with you face-to-face. Few of us understand genetics, and even most doctors are not well trained in understanding or explaining genetics. It is best to work with a specialist -- a geneticist or genetic counselor -- who can meet with you and help you to understand the process and the results.

A research lab is not staffed to explain the concepts to you, or handle all the questions that you need answered. Please help us protect the time of the research laboratories so that they can continue with the very important research work which we are hopeful will soon lead to new therapies for VHL.

Obtaining Useful Results from your Research Samples

Many people submitted blood samples in the past to one of several research studies which led to the finding of the VHL gene. Research testing does not cost money, so if results can be obtained from these research samples, that would be the first choice. However, since the gene was found in June 1993, none of the genetic research studies are taking new participants. So if you had not previously submitted a sample, you cannot obtain results from a research lab.

Dr. Seizinger's samples, which were part of the Harvard/Mass General Hospital set of samples, did not yield results which are useful to patients. Those samples led to the discovery that the VHL gene was on chromosome 3, so they made a significant contribution to research, but unfortunately there are no practical answers for individual patients from that work. Dr. Seizinger's lab has since moved to Bristol-Myers Squibb in New Jersey, where they are working to find a drug which might be useful in managing VHL and other tumor conditions.

If someone in your family has previously participated in Dr. Zbar's research at NIH, then you can write to Dr. Zbar and ask if he has identified the mutation area in your family's VHL gene. Please do not contact Dr. Zbar by telephone. His is a research laboratory, which is not staffed to accept telephone calls. If he has useful results to share with you, he will send a letter with the information the production lab will need to do direct testing. This applies only to families who have previously submitted samples to Dr. Zbar. He is not accepting new families into his study, nor new members of participating families. However, information on any one member of your family will give you the information you need to test other family members in the production lab.

Dr. Berton Zbar
Frederick Cancer Research Institute Fax: 301-846-6145
Laboratory of Immunobiology
Building 560, Room 12-71
Frederick, Maryland 21702

If you receive such a letter from Dr. Zbar, you would then present this letter to the production lab to obtain testing.

Other research labs

If you had sent samples to another research team, you should write and inquire whether they have identified the particular mutation area in your family's VHL gene, so that a direct test can be done.

Even if you are not able to obtain this information from the research team you dealt with, all is not lost. Because of the methodology developed, primarily by Dr. Zbar's team, there are a number of options for testing which will be explained to you by your local genetics team.

Current options for DNA Testing

[Based on an article originally published in the March 1995 issue of VHL Family Forum. Last update 2/21/05. JWG]