Educating Membership about Research

Your organization may focus mainly on support activities or fundraising. Even if you don't plan to conduct studies of any kind, your membership may wish to learn about and participate in studies. In addition, funding agencies make monies available for "studies" or projects that have social or community focuses. Research is an important area of concern, and your organization will need to have—and provide—information about it.

Helping Members Decide Whether to Participate

Your members may be eager to participate in research. They may have heard about genes being identified for your condition or other conditions and wish to be tested themselves. They may also be fearful about participation, concerned that genetic testing might cause them to be denied a job or health insurance in the future.

They are right to be concerned. Although there are active policymaking efforts to protect the privacy of genetic information in a meaningful way, there is still a long way to go. You can be an important source of information for your members to help them evaluate various studies and help them understand not only the potential benefit to them and their family members, but also the essential safeguards for their heath information.

Any study that seeks to enroll individuals must provide several protections:

• A robust informed decision-making process and the resulting documentation
• Protection of identifiable personal and health information
• Provision for disposal of samples or information at the termination of the study
• The opportunity to withdraw from or chose to not participate in the study without negative effects on health care or future treatment opportunities

The organization can be the source of information on the various ongoing research studies of your condition—the purpose of the study, the principal investigator (PI), contact information and what is required of participants.

A deciding factor for a participant considering being a part of a clinical trial may be whether or not the data will be shared with them once the study has been completed. When your organization is determining whether or not to conduct clinical trials (or participate as a co-PI), this subject may be something to consider.

Shelley Bowen

Barth Syndrome Foundation

“While we have not yet entered the realm of clinical trials for treatment, our families have been involved in clinical research. Our efforts to learn more about the clinical aspects of Barth began at our first conference. We hosted a day of "clinics" which consisted of gathering clinical data under an IRB approved protocol and consultations with clinical experts at no cost to the families. Over the years we have continued this approach. The majority of all clinical publications about BTHS since 2000 have been a result of this initiative.

The families who paved the way for what we know about Barth Syndrome are in someway at a disadvantage to those who are now benefiting from their efforts. Prior to gene discovery, families contributed to the laboratory where investigations were being done to find the gene responsible for Barth syndrome. After, the gene discovery blood was sent from boys who were clinically diagnosed with BTHS and their families to laboratories that were not yet CLIA approved.

A great deal of data exists for those boys who are now men. However, some of those boys have died. That information is important as well. The parents don't have a genetic report about those findings, which equates to the very pioneers who gave their blood and tissue having no paper in hand to verify the diagnosis. Yes, they could say I am patient X in XYZ publication but that's really not sufficient proof to meet the confirmed diagnosis of Barth syndrome inclusion criteria. Those who are living are being advised they need to go through the testing again (and yes pay for the testing). However, what about the data and years of clinical information that could be helpful from those who are now deceased? Those parents have no recourse.

My point is, you don't know what might be important later on. It's better to consider these matters before we go into clinical trials with our eyes wide open sooner rather than later.”

Internal Links

• Barriers to Rare Disease Research
• Benefits of Collaboration with Advocacy Organization Community
• Blood and Tissue Banks
  • Genetic Alliance BioBank
• Consumers and Researchers
• Facilitating Quality Research
• Funding Research by Others
• Getting Needs onto the Research Agenda
• Genetic Privacy
• Orphan Drug Application
• Patient's Bill of Rights
• Promoting Research
• Registries
• Research Models
  • Research Model 1: Recessive Disorder
  • Research Model 2: Chromosomal Disorder
  • Research Model 3: Dominant Disorder