As many of you already know, I began a research study a few months ago to investigate VHLFA members’ attitudes towards genetic testing. The research study was a requirement for my graduation from a master’s degree program in genetic counseling. Individuals who were 18 years of age or older and who had a parent and/or sibling with VHL were asked to complete and return a survey. Five hundred members received the survey in February 1997, and I received over two hundred responses. Many thanks to all who participated!! As promised in the cover letter to the survey, this article is a summary of the results and significant findings of the study.

VHL Family History

Seventy-one percent of those who responded had a diagnosis of VHL. 23% said they didn’t know if they had VHL, and 6% replied that they did not have VHL. Of those with VHL, 17% reported that they were mildly affected, 45% said they were moderately affected, and 36% said they were severely affected. Of the sixty-eight percent of respondents who had children, 43% had at least one child with VHL, and an additional 45% said they didn’t know if any of their children were/would be affected. Many (44%) had known that VHL was in their family for more than 20 years, and 17% had known for fewer than five years.

Screening

Ninety-four percent of individuals who have VHL reported that they undergo periodic screening (MRIs, CT scans, eye exams, etc.) for signs of VHL. Only 38% of at-risk people who don’t know if they have the altered VHL gene are screened regularly. Some respondents commented that their doctors did not know what to look for, that they could not afford screening, and that the screening was not covered by their insurance.

Genetic Testing

Forty-five percent said that they had undergone genetic testing for VHL. Of these, 14% were still waiting for results at the time that they completed the survey. About 80% of people who had been tested said that they received information prior to testing and that they were satisfied with the amount of information received. This level of satisfaction was the same regardless of whether the information was provided by a doctor, a genetic counselor, or another source (such as the VHLFA). The fifty-five percent of respondents who had not been tested were asked whether they planned on being tested. 26% said "yes," 32% said "no," and 14% said "I don’t know." For many individuals, genetic testing was not necessary, as they already knew they had VHL.

Attitudes toward Genetic Testing

This section comprised the bulk of the survey. Participants were asked whether they agreed, disagreed, or were neutral regarding nine reasons to have genetic testing for VHL and ten reasons not to have genetic testing.

Reasons to Have Genetic Testing

The most agreed-with reasons to have genetic testing were: "I want to increase the frequency or extent of screening if I have the altered gene" (80% agreeing), "I want to end the uncertainty of not knowing if I have the altered gene" (71%), and "The test result would help me to plan for the future" (73%). Many respondents also agreed with "I want to stop screening if I don’t have the altered gene" (64%), "I might find out that I don’t have the altered gene" (63%), "I would take better care of myself if I knew I had the altered gene" (64%), and "I want to learn about the risk to my child(ren)" (68%) as reasons to be tested. Thirty-six percent of never-married individuals indicated that the test result would influence their decision to get married. Fifty-nine percent of individuals without children said that the test result would influence their decision to have children.

Reasons Not to Have Genetic Testing

The most agreed-with reasons not to have genetic testing were: "I am concerned about losing my insurance if I have the altered gene" (57%), "There is no cure or prevention for VHL, only treatment and management" (52%), and "I am concerned about the reaction of my family or spouse to the test result" (52%). Fewer people were concerned about their own reaction to the test result. Twenty-nine percent of respondents agreed that they were concerned about their reaction to a positive result (i.e. hearing the news that they do have the altered gene), and only 18% agreed that they were concerned with their reaction to a negative result (i.e., hearing that they do not have the altered gene). Reactions were split over the accuracy of the test, with 33% agreeing that they were concerned about the accuracy of the testing and 31% disagreeing. Forty percent of participants agreed that the testing was too expensive. 51% disagreed with the statement "now is not a good time in my life to be tested," and only 6% agreed.

Participants’ Comments

The last part of the survey consisted of two "open-ended" questions. The first invited respondents to comment on any of the survey’s previous questions. The second question was "What would you like health care professionals to know about living in a family with VHL?" Many of you took advantage of the blank spaces underneath these questions! Some told personal and moving stories of their families’ experiences with VHL. Some sharply critiqued and others complimented their medical caregivers. Many of you expressed your appreciation of researchers studying VHL. Although there was a wide range of responses, a few themes emerged. Overwhelmingly, the most popular comment was that doctors need to become educated about VHL. Many people commented that their physicians do not have even a basic understanding of VHL. Others expressed their frustration over doctors’ unwillingness to work as a team, lack of attention by their doctors to their reports of symptoms, and the need to repeatedly "teach the experts" about their condition.

If you are interested in genetic testing...

Several respondents wrote that they would like to have genetic testing but were uncertain how to go about it. One way to start the process is to contact a genetic counselor in your area. A genetic counselor is a health care professional who is specially trained to talk with individuals and families about genetic conditions and testing. He or she can also coordinate the acquisition and shipping of samples. To find the genetic counselor nearest you, contact:

The National Society of Genetic Counselors
233 Canterbury Drive
Wallingford, Pennsylvania 19086-6617
Phone: +1 (610) 872-7608
Fax: +1 (610) 872-1192
http://www.nsgc.org/
E-mail: NSGC@aol.com

For More Information and/or a complete copy of the results . . . please contact the VHLFA hotline at (800) 767-4VHL or info@vhl.org.

Acknowledgments. I would like to express a special thank-you to the three participants whom I interviewed by phone. Your experiences taught me so much and were an extremely valuable addition to my thesis. Thanks also to Joyce Graff for her assistance with this study, and for agreeing to publish the results in the VHL Family Forum.

More about DNA testing

As published in the VHL Family Forum 5:2, June 1997. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.