A human genetics research study is a collaborative effort between the scientific research group and people volunteering to participate. Both sides invest considerable time in the project with the ultimate goal of preventing or curing MS.
Preparation
Long before a potential volunteer becomes aware of a genetics study the research group will have prepared a plan stating the goals of the project, how the study will be run and a "human subjects’ consent form", all of which must be reviewed and approved by their institution’s internal review board. The purpose is to ensure protection for the volunteers. No research can begin without this approval and it must be reviewed on at least a yearly basis.
How do people find out about the study?
People with MS often learn about a study on the Internet, at their MS centre, or from their neurologist. Pamphlets explaining the study and how to contact the research group are often made available in clinic waiting rooms. MS society publications may provide information, or the investigators may be invited to speak at MS support groups or MS society meetings. Other methods used to promote research studies include advertisements in newspapers and on radio.
Recruiting volunteers
It can take many, many months to recruit, enrol and finally begin analysing individuals in the laboratory.
Recruitment typically begins with a telephone call. Since the scientists may be a thousand miles away, an initial phone conversation between the potential participant and a studycoordinator will explain the study and give the coordinator an opportunity to become better acquainted with the volunteer.
Individuals will be asked to fill out a familyhistory form providing information on themselves and the family members, spouses and friends that have agreed to participate. Contact will not be made with anyone who does not wish to participate.
A 'pedigree' is generated for each family in the genetics study (see figure), based on information provided in the family history form. It can be used as a diagrammatic reference and also in conjunction with genetic data to check for inheritance patterns.
People diagnosed with MS will be asked to complete medical record release authorisations as obtaining medical records is crucial. Tracking down records is time consuming, especially for individuals who have seen multiple doctors.
Once sufficient medical records have been obtained, they are reviewed by the study coordinator and a neurologist to determine if entry criteria are met. At this point, the volunteers who meet the study criteria will be ready for the final step of enrolment: providing a blood sample.
A pedigree for a family in an MS study
The proband is an individual or member of a family being studied in a genetic investigation, who is the point of reference in identifying the other family members. All of the other members are labelled according to their relationship with the proband. The blue circle or square signifies a person with MS. The strike across the circle represents a deceased family member.
How is a blood sample given and what happens to it?
To collect blood samples for our research, phlebotomy kits are sent to an individual’s home to be taken to their physician or local clinic. Sometimes arrangements are made to have someone go to a participant’s home to take their sample. In each case, the sample is then shipped immediately to be processed by the lab.
Each sample is processed and added to ongoing experiments in the lab. Sharing samples with collaborators is common. Some groups are also known to share samples with other scientists who request these important materials and who have a valid scientific need and purpose for them.
We usually ask the person with MS, their parents and perhaps their siblings, to donate a blood sample. In addition, samples from friends or spouses/significant others are routinely collected as controls.
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