Counseling Incidental Detection of Consanguinity

Consanguinity (blood relationship between two parents; having a common ancestor) is a concept well known to genetic counselors and assess when taking a standard family history, but what about when the blood relationship between the parents is incidentally identified through genetic testing?  This is something that rarely has come up in the past, but with newer technology including SNP arrayCGH and Whole Genome/Exome sequencing this now a real possibility.  One in which we must decide how to discuss the finding with families; in some cases they may not even know they are related, in others there could be serious abuse issues.  Until now, there have been no real guidelines for how this is even reported to us from the laboratories.  Fortunately, the American College of Medical Genetics and Genomics has recently published guidelines for the labs when documenting suspected consanguinity.  This is a great first step in battling this complext issue surrounding likely already complex results.

Some questions to consider:

Is the test confirming or just suspicious of consanguinity and to what degree?

Is this finding related to the child’s symptoms?

Is there follow-up testing needed to confirm the finding?

Does the family know of the possibility of consanguinity; are they from a very small community in which consanguinity is common?

Is there any evidence of an abusive history in which social services/CPS needs to be involved?
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Are there legal implications in your particular state regarding reporting of consanguinous unions?

What is the family’s support network to handle this kind of information? Do we as providers have resource to provide in case counseling/support is needed?

Is the child old enough to understand the information if present during the counseling session?

Food for thought as we continue to counsel regarding more and more complext results.  A link to the abstract of the article (currently not in print yet) is below.

American College of Medical Genetics and Genomics: Standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testingExternal Web Site Icon
Rehder CW, et al. Genet Med 2013 Jan