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Choosing Embryos to Avoid Disease 

Choosing Embryos to Avoid Disease
Chapter:
Choosing Embryos to Avoid Disease
Author(s):

Robert L. Klitzman

DOI:
10.1093/med/9780190054472.003.0006
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date: 29 July 2021

Preimplantation genetic diagnosis (PGD) lets patients reject embryos with certain genes (e.g., for breast cancer, cystic fibrosis, or Down syndrome). Increasingly, researchers are also using whole-genome and whole-exome sequencing to identify genetic markers associated with other diseases. Doctors and patients can also choose embryos with certain immune system markers or human leukocyte antigens to enable the future child to donate stem cells or other tissues to an existing child with a severe disease and be a so-called savior sibling. This procedure has been used for sickle-cell anemia and beta-thalassemia. In the near future, CRISPR (clustered regularly interspaced short palindromic repeats) also will let doctors insert desired genes into embryos. But providers and patients struggle with when to use PGD, for which conditions, how to decide, how many times to attempt PGD if it fails, whether to select embryos to create savior siblings, whether patients should always be told the results of genetic tests on embryos, whether to test the fetus to confirm the results, and what to do with leftover embryos—whether to freeze, discard, or donate them.

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