Our Experiences with DNA Testing

Obtaining the testing: Our doctors and local blood laboratories had several suggestions, but were not at all sure where to get DNA testing specifically for VHL. Of course, we immediately called upon the VHL hotline and spoke with Peggy M., who provided a wealth of information. She helped us reach Dr. Catherine A. Stolle, of the Children’s Hospital of Philadelphia.

Upon our contact with Dr. Stolle, forms were sent to us, then completed by us, as well as at the doctor’s office.

Submitted the test: After Frank’s blood was drawn at the doctor’s office (in accordance with the directions of Dr. Stolle), Frank and I went directly to Federal Express asking for assistance in shipping the blood properly. Our doctor’s office did not know how to ship the blood, and the specific directions (other than going through Federal Express) were not included in the information supplied.

Fed Ex needed the proper packaging for the blood. We stopped at an Urgent Care facility in the area to get the proper packing required for blood. The folks at the Urgent Care were nice enough to give us the packaging at no charge, and said it was how they shipped their blood samples. Fed Ex was in agreement with the packaging—we got lucky on our first try to find the packaging—not having to go to a laboratory or hospital.

The shipping fee was $25, out of our own pockets. We charged the DNA fees for the lab on a credit card (over $600), and when the results came in, requested reimbursement from our health insurance plan. We were able to be reimbursed for the cost of the testing. Upon renewal, we have noted our health insurance plan now excludes payment for DNA testing to determine a medical problem.

Who explained: Dr. Stolle was kind enough to talk to us about the testing, but most of what she said went way over our heads. The testing was not completed for 3-4 weeks, so when I called first to follow up, the testing was still incomplete.

Upon another call to Dr. Stolle, an assistant told me the results had been sent to our doctor’s office just that morning. I immediately called, and was told the doctor would call me back. Dr. Ramos called and said Frank did test positive for VHL, and would send us the entire report, as it is complicated.

To this day, the only part of that report that means anything to us is the last paragraph that states in part, "This mutation has been reported previously in patients with VHL."

Points of confusion: Dr. Stolle said it was positive and we have reviewed the test results. Sure we are confused, but we are not scientists.

On the day we found out that Frank tested positive for the VHL gene, three hemangioblastomas were removed from inside his spinal cord, and we await the removal of a second brain tumor in his left, upper cerebellum. His first brain tumor was removed from the right, lower cerebellum.

Our experience with VHL began on March 20, 2001, and Frank was confirmed positive for the VHL gene on August 16, 2001.

I hope our information can help you and others. I cannot tell you how much we appreciate the help of Peggy M. in our desperation and confusion.

How to Avoid Confusion

Editor’s note: In order to avoid the confusion expressed by Frank and Paula, it is preferable to order the test through a local geneticist or genetics professional. This will ensure that the local team knows how to ship the blood, and can assist in explaining the results to you in language you can understand. While everyone wants to speed through the process, this is one case where it is good to slow things down, talk through your fears and considerations before the testing, and have someone available to help you understand the full implications of the results, for yourself and others in your family. Optimally, schedule a 30-60 minute sessions with a genetic counselor to review the results. VHLFA is always willing to talk with you as well. 1-800-767-4VHL, info@vhl.org, or vhl.clinicahealth.com  Discussion groups are also available in French, Spanish, and German.

DNA testing for differential diagnosis and for the first sample in a family are best performed by one of the "high hit rate" labs in the world. Dr. Stolle’s lab has recently relocated to: Dr. Catherine A. Stolle, Dept of Pathology, Children’s Hospital of Philadelphia, Abram Research Center 1106F, 34th and Civic Center Blvd, Philadelphia, PA 19104. Telephone 215-590-8736, Fax 215-590-2156, e-mail: stollec@email.chop.edu The complete list of DNA testing facilities for VHL is at http://www.vhl.org/healthcare/dna-src.php

Who Explains the Results? -- from Dr. Stolle

DNA-based diagnostic testing is considered to be "high complexity" testing by the agencies that certify clinical labs.*  While every effort is made to describe test results in understandable language, the nature of the test and, therefore, the results are highly technical. Because of the nature of the clinical information in the report, test results must be communicated to the patient by the requesting physician or healthcare professional who is responsible for answering questions regarding the results and their implications for patient care.

It is a sign of our times that patients are being urged to be more pro-active in their own medical care. When they are, however, they may find the process confusing and the information difficult to interpret.

There have been discussions at the U.S. federal level regarding regulation of genetic testing. The conclusions of a panel of experts organized to advise the Surgeon General include the recommendation that genetic testing not be provided directly to the patient by the laboratories. Instead, testing must be requested by a physician or healthcare professional base on clinical necessity (as assessed by examination of the patient or the patient’s records). The physician is then responsible for communicating the results, discussing the implications for the patient and the family, and co-ordinating patient care. In some cases, unfortunately, the local physicians are failing in their responsibility to their patients to serve this vital function. -- Catherine Stolle, Ph.D., Children’s Hospital of Philadelphia, Pennsylvania

*In the United States, Clinical Labs are certified by State and federal governments under the Clinical Laboratories Improvement Amendments (CLIA) and the College of American Pathologists (CAP).