Electronic communication and medical research: beyond the record.

In the current issue of Mayo Clinic Proceedings, Tweet et al1 describe a novel solution to a perpetual problem that clinical researchers must address: How can researchers effectively and ethically identify and recruit adequate numbers of research participants, particularly if the research protocol involves participants having a rare condition? Absent such recruitment, a study will fail. In their report, Tweet et al describe how a social networking site used by a disease-specific support group provided participants for a research registry of spontaneous coronary artery dissection. The social network reached beyond national boundaries to form a patient-initiated group, potentially of a size necessary to support research in this rare condition. Patients voluntarily became participants in the registry and provided their medical histories and disease-specific pathologic data to the registry. Key to the initiation of this project was the fact that members of the social network contacted the investigators. As such, Tweet et al avoided “cold calling” patients or other undesirable recruitment techniques to gain access to the valuable clinical data. Federal regulations2 governing protection of human research participants have been widely interpreted to prohibit “cold calling” of potential study participants. As an example of this interpretation, a researcher cannot develop a set of inclusion/exclusion criteria and then contact, to request consent for study participation, every patient who meets those criteria by randomly sampling from a geographic area or any other defined domain. However, there are different conditions under which clinical research may progress. Study of a public health issue affecting many people might use deidentified data obtained from hospital discharge databases collected by each state in the United States or data reported to a federal organization such as the Centers for Disease Control and Prevention. This method does not allow the investigator to contact specific patients. If biologic specimens are to be studied, either the consent of the patient who donated the specimen must be obtained for the specific purpose of the study or the specimen must be deidentified. The deidentified phenotype information retained with such specimens may be found to be inadequate as more is learned about conditions of interest. If the potential study participant is a patient of the physician-investigator, the investigator may present the study to this patient. For a given large-scale investigation, this strategy might lead to long lists of coinvestigators and to the need for research assistants to coordinate patient entry. Clinical and Translational Science Awards to University Health Centers (paid by the federal government) have supported a different, potentially more powerful, mechanism for identifying potential study participants. When patients present to their physicians' offices or clinics for routine care, they are asked to agree to be contacted for future studies on the basis of the information in their electronic medical record. This is a formal consent process subject to institutional review board oversight to ensure that the process meets the required standards for protection of human research participants. Within the context of these methods, an individual health center may develop, for future reference, disease-related registries of patients. Recently Schmickl et al3 reported that an electronic screening tool that executes a predetermined search of the admission electronic medical record can be highly effective and efficient at identifying research participants. See also page 845 When a rare disease is to be studied, however, it is unlikely that there will be sufficient patients in one health care entity. New understanding of human conditions may begin with a case report. A cohort analysis involving a collection of patients may follow. Without the activation of progressively sophisticated and powerful research methods, important questions, which have to be asked to lead to improvements in health, will not be addressed. The federal regulations outlined in the Federal Insurance Portability and Accountability Act of 1996 govern the exchange of information among health care centers and place restrictions on the gathering of data. One option for bypassing these prohibitions is to conduct research through multicenter trials. This research model is time-consuming and financially expensive. However, multicenter trials have been applied to the diagnosis and treatment of many complex disease processes, including cancers, with positive results. Often the people most highly motivated to support investigations of a rare condition are those personally affected and their first-degree relatives. These people may form research networks unencumbered by the limitations placed on physicians. Genetic Alliance4 is a group of such people who have joined together to promote development of a research database with the potential for tissue banking, so that many different genetic conditions can be studied within one support structure. For different practical reasons, the study of some rare conditions may be better supported outside the comprehensive framework of Genetic Alliance. An alternative method of gathering study participants, social networking set up by potential participants themselves, as described by Tweet et al, is likely to be much less costly at this stage than any of the other research methods mentioned previously. When a strong definition of phenotype is present, most likely supported by pathologic data, such a registry may be able to grow sufficiently to support the development of diagnostic tests that eventually can be applied in a manner that will decrease patient morbidity and mortality. This is the goal that has been pursued by the North American Malignant Hyperthermia Registry.5 Authority and responsibility for research into rare medical conditions are devolving from the researchers to the patient-participants. This is to be expected, given the current political attitudes and views on patient privacy in the United States. In the case of rare conditions, greater commitment of the patients to research appears to be necessary for the advancement of translational science in areas relevant to their own well-being. A positive outcome is that patient-participants and their families will have greater empowerment to advance both the understanding and the potential treatment of their medical conditions.