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Advocacy in Genetics: A Teaching Guide and Workbook
An Individual Lay Advocacy Story and Plan
Righting A Wrong?
Lay advocacy consists of informal and persuasive actions; it is often done outside of a formal system. The goal of lay advocacy seeks some type of social and/or political outcome. Individual lay advocacy efforts are most effective when done by members of an affected group and/or their parents, guardians, and friends. These efforts strive to effect change for a specific person. A parent working to improve the education their child is receiving in school is an example of individual lay advocacy.
Betty and Bob Stewart sit together quietly, waiting for their intake interview with a genetic counselor. Despite the bright sun streaming in through the windows, Betty and Bob feel anything but cheerful. Betty’s sister has MS, and recently, during a routine pediatric exam, their second child – a cherubic, rosy-cheeked, lively 20-month-old boy named Alex – had tested positive for an MS mutation. During the time that they have had to wait for an appointment with a genetic counselor, Betty and Bob have struggled to grasp the implications of this information. How can they mediate the impact of MS in Alex? Would gene therapy eliminate the disease in Alex?
The obvious answer would seem to be "yes." As parents responsible for the health and well being of their child, shouldn’t they do whatever they can to spare Alex the risk of acquiring this disease? But is there a downside, as well? Betty and Bob have asked themselves dozens of questions while trying to puzzle this out.
Gene therapy is a relatively new option in health care. Have all the possible ramifications been realized? Bob, a physicist, knows that "for every action, there is a reaction." What will the "reaction" be if they manipulate Alex’s genes to eradicate this disease? MS occurs more frequently in women than in men; what if Alex has a mild form of the disease and it never manifests in him? Research has shown that merely carrying the gene for a disease does not guarantee that you will get the disease; environmental factors appear to play a role in the development of MS. MS typically manifests in the early to mid-40s. Perhaps they should wait and let Alex make his own decision about gene therapy. Researchers may know more about the implications of gene therapy by the time their son reaches his 40s. But what if the therapy isn’t as effective if started later in life? Would waiting for Alex to have a voice in this decision compromise the effectiveness of the therapy? There is also the possibility that a cure will be found for MS by the time Alex is in his 40s.
Information available as a result of the Human Genome Project has opened up a world of choices for these concerned parents. Betty and Bob need more information in order to make an informed decision; therefore, they are meeting today with the genetic counselor. They also realized they had additional questions and concerns directly related to this counseling. How could they be assured that their counselor had the most up-to-date information? How do physicians and genetic counselors manage to keep abreast of the rapid advances in genetic research and gene therapy?
Betty and Bob also wondered about possible future discrimination that their son might face, based upon the decision they made. Could legislation, regulations, or court decisions ever impact what seemed to be their private decision to make? Could laws ever be passed forcing gene therapy on citizens, so that society would not have to accommodate people with disabilities? Conversely, might laws be passed one day that affect people who had had gene therapy, if it came to be viewed by the majority as detrimental to society for some reason?
Betty and Bob recognize that, whether or not they choose to undertake gene therapy for Alex, there are implications. On the one hand, gene therapy for Alex would seem to eliminate the risk of disease from his life and to improve his overall quality of life. But the unknown implications of gene therapy continue to worry Betty and Bob. Bob, the scientist, never forgets that any one action sets in motion an entire set of other actions, with an outcome perhaps quite different from that which might have been expected or probably would have occurred had the action not been taken. Since gene therapy is relatively new, what might its long-term implications be? For instance, how might Alex’s children be affected by his gene therapy today?
Betty and Bob took comfort that multiple sclerosis is not affecting Alex’s health and quality of life at the moment, nor is it a life-threatening disease. They have the luxury to postpone taking any action until they feel they have all the information they need to make an informed decision.
When Betty and Bob meet with their genetic counselor, Judy Schott, they presented her with the myriad of questions they have about gene therapy for their son. As their hour with Judy draws to a close, Betty and Bob ask, "What about all the other parents in our situation? We know we are not the only ones faced with these choices, options, and decisions. Who can help all of us?"
Steps to an Individual Lay Advocacy Plan
How could you solve Betty and Bob’s Problem?
Identify the problem - Problem Statement
A couple’s young child has been identified to carry a gene mutation for a potentially crippling disease that typically has a mid-life onset. Gene therapy is available as a result of the Human Genome Project. The child’s parents have questions and concerns with the procedure, however, because the long-term implications of the therapy are unknown. The couple wants to know whether or not gene therapy is the right option for their son.
Desired outcome or decision - Goal Statement
The couple wants to make the right, informed decision for their child as it relates to gene therapy.
Who can make the decision to implement the goal?
The couple is empowered to make this decision, because of their son’s age.
Strategies
The couple notified their immediate family about the situation they faced, and their insurance company was notified via their primary care physician’s referral. Questions nagged the couple about notifying their employers, so they did not. The couple knows it is making a decision for their son and that their concerns may need to be compromised if the long-term benefit to their son seems to outweigh those concerns.
Consequences
Because the long-term effects and implications of gene therapy are unknown, the couple realizes that the "right" decision may not be 100% right and a "wrong" decision may not be 100% wrong, either. They realize they must gather as much accurate information as they can and make the best decision they can. The purity of "right" and "wrong" are compromised by the facts of their situation.
Determining when it is time to escalate
Many questions exist about the effectiveness and appropriateness of gene therapy for Alex. Such questions warrant collecting as much information as possible in order to make an informed choice. With this in mind, the couple elects to explore as many information sources as possible in addition to their pediatrician and genetics counselor. They also want to talk with other families in a similar situation, and staff at the local and national MS organization; they want to learn whether any research options are available. Because onset of the disease is not imminent, and because the disease is not life threatening, the couple feels comfortable taking all the time they need before making their decision. The couple is resolved to pursue answers until they feel they have the information they need to make the best decision on behalf of their son.
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