The time to prevent mendelian genetic diseases from donated or own gametes has come

Authors:
Nicolás Garrido, Ph.D., M.Sc., Ernesto Bosch, M.D., M.Sc., Pilar Alamá, M.D., Amparo Ruiza, M.D.

Volume 104, Issue 4, Pages 833-835

Abstract:

“Sorry Doctor, Mrs. X informed us that her child is very sick and that their doctor’s first impression is that the symptoms seem to be caused by a genetic disease. They are asking about the donor’s familial history and the genetic tests conducted to speed up the diagnosis. How do you want us to proceed?”

  • Daniel J. Kaser, MD

    Dear authors,

    Congratulations on a thought-provoking piece in this month’s “Conceptions” section. Most would agree that certain genetic diseases may pose a burden on the individual, family and perhaps society in general. Other conditions, though, with variable age of onset, expressivity and penetrance (for example, alpha-1 antitrypsin deficiency) may to a lesser degree, if at all. In our practice we discuss guideline-based screening and an expanded carrier paradigm with all patients. For those patients using their own gametes, while the discussion is nuanced, inevitably they have the option to pursue or decline screening. What then about patients using donor gametes–they no longer have that option unless more comprehensive genetic screening is done upfront. Currently, ASRM only recommends screening donors for cystic fibrosis, ethnicity based panels, and possibly fragile X. This is in contrast to your proposal about expanded carrier screening for all donors.

    Several questions:
    1) In your proposal, would genetic screening of potential donors be voluntary? If not, would donors have the option of not learning their test results (i.e., non-disclosure)? Would the recipients have an option of only learning (or only being ‘matched on’) certain test results?
    2) In the absence of formal guidelines from our professional organizations, how would you propose determining which conditions are screened for and which are not? Would different agencies or banks come up with customized panels that they considered most relevant?

    Thank you for your comments!

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