Communicating with relatives that they may share a gene variant that could cause disease is problematic. Maybe you do not want to share that information with other relatives. Maybe other relatives do not want to know about such information.
Examples of such gene variants are BRCA1 and BRCA2 that predispose women to breast and ovarian cancer and men for some forms of cancer.
Medical practice may make more use of a person’s genome in medical care in the future. Let us assume this will be so and that there is then the potential for one person to share matching genetic information with their relatives.
I propose the following:
1. Relatives identified to share information with. An individual can identify relatives with whom they would want to share genetic information by their relationships or names and relationships (e.g., sister, cousin, mother, etc.). The individual can indicate the specific gene variant to be shared or that the individual wants to share all genetic information that affects disease. The individual could indicate whether sharing the genetic information would or would not include the individual’s name.
2. Relatives indicate they want to receive genetic information. Suppose one of those relatives indicated that they wanted to receive genetic information from that individual, categories of relatives, or all relatives. In that case, that relative could be informed of that genetic information. The individual could include or exclude categories of genes that they would like to receive information on (e.g., someone might wish to exclude genes related to dementia).
3. Confirmation of relationships. An analysis of the two individuals’ genomes would confirm any specified relationship.
4. Information shared. The information would be shared with the relative only if there was a gene variant match in that relative’s genome.
This proposal would allow an individual to share genetic information with selective relatives and ensure that the relatives would want to receive such information. And the individual could do this anonymously if they choose.
This proposal is only possible with changes to current electronic medical record (EMR) systems. The EMR systems would have to be able to communicate with each other and identify EMR systems associated with a medical location where an identified individual receives care. EMR systems need access to patients’ genomes that do not compromise patient information.
The approach could also be used to create a universal patient medical record.
Michael R. McGuire is the author of A Blueprint for Medicine.
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