Participation by clinical geneticists in genetic advocacy groups

For health care professionals (HCPs), patients and families alike, genetic advocacy groups play an important role in dealing with genetic diseases and birth defects. The Genetic Alliance currently lists over 300 member groups [Genetic Alliance, 2002]. These organizations vary greatly in size and structure. Many start out as a few concerned families leading an informal ‘‘kitchen table’’ operation. Over time, they may mature into a large international association with bylaws, nonprofit status, fundraising, and well-organized executive and medical advisory boards [Walker, 2002]. Although the initial goal may be emotional support and assistance in dealing with a challenging disease, many organizations undertake the roles of education, advocacy, and research [Terry and Boyd, 2001]. As described by Terry and Boyd [2001], groups such as PXE International have promoted a new advocacy model. Beyond participation in research and donors of their own genetic material, advocacy groups may advance to become active and critical collaborators. The role of HCPs in a genetic advocacy group is usually viewed as a mutually supportive relationship. Weiss and Mackta [1996] describe it as a ‘‘partnership between consumers and professionals’’ and offer ‘‘points of reference’’ for the role of the HCP. Table I lists guidelines describing the participation of HCPs in advocacy groups as recommended by the Genetic Alliance. Over time, the role of HCPs has evolved from informal consultant to roles including pro bono examiner at advocacy group meetings, integral board members, and research liaison. The type of communication has been extended from lectures and casual conversations at group meetings, to electronic mail (e-mail) solicitation and chat room host [Walker, 2002]. Although the role of HCPs is fundamentally a volunteer activity to help affected patients and families, there is no doubt that HCPs also benefit. Geneticists readily admit the unique opportunity to meet many individuals with a rare disease, which may interest them. Truly, HCPs learn as much from the group members as the group members learn from the HCPs. Beyond the education derived from social encounters, the advocacy group meetings may be a forum for research. This may be viewed as less altruistic [Walker, 2002] than pure pro bono membership, but it provides practical access to research participant, and even funding for research [Terry and Boyd, 2001]. Other interests, which play a role in advocacy group participation, include ego (reputation), intellectual curiosity, and duty [Merz et al., 2002]. The consumer and HCPs in a advocacy group may have diverging agendas, which is not necessarily a deterrent to collaboration. However, there is a need to acknowledge different goals and motivations to ensure that the relationship is transparent and mutually understood [Terry and Boyd, 2001]. The activities of HCPs in a genetic advocacy group present a variety of practical issues not experienced elsewhere. As in the setting of a traditional consultation, respect for patient confidentiality is a keystone of genetics [Table I; Reilly, 2002]. The information shared by a patient with a professional in a formal consultation is recognized as private. However, there are no guidelines for the information gleaned at advocacy group meetings, from reading e-mail lists or hosting chatrooms. In each situation, a consumer willingly discusses their medical issues in an open forum. Frequently, there is no advice given to the consumer or HCP participant about the limits of confidentiality in these settings, e.g., ‘‘nothing leaves this room,’’ or ‘‘it’s out in the open for all to share. ’’ Participation in genetic advocacy groups is generally not part of the formal training curriculum for HCPs, in general and physicians, in particular. The HCP who cares for a patient(s) with a genetic condition may follow the same path as the patient in seeking information. A search of the literature and Internet websites may acquaint the HCP with a local and/or national advocacy group. Besides using the group’s educational materials or attending a meeting, an HCP may increase their involvement through active membership. Depending on the level of interest and expertise, the HCP member may take on a more prominent role as ‘‘expert. ’’ Occasionally, a trainee is invited to an event by a mentor who has been active with the group. Though not part of a formal genetics curriculum, the experience supplements the *Correspondence to: Angela E. Lin, M.D., Genetics and Teratology Unit, Warren 801, Massachusetts General Hospital, Boston, MA 02114. E-mail: ALIN@Partners.org.