EDITORIAL: Preimplantation genetic screens

Author(s): Arthur L. Beaudet

Source: Science, New Series, Vol. 349, No. 6255 (25 SEPTEMBER 2015), p. 1423
Published by: American Association for the Advancement of Science
Stable URL: https://www.jstor.org/stable/24749257
Accessed: 12-02-2021 08:26 UTC

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 Preimplantation
Preimplantation genetic
genetic
screens
screens
advanced molecular cytogenetics (comparative genomic
ties that cause health disorders is expanding, hybridization on a DNA chip).
the pace of discovering cures for genetic diseases What about the possibility of detecting de novo muta
is not nearly as fast. However, technologies ap tions in preimplantation IVF embryos? An estimated 500
plicable to preventing heritable genetic diseases genes may undergo de novo mutations in every human

Although our knowledge of genetic abnormali

have been developing, among them so-called embryo, leading to severe conditions in up to 0.5% of
"next-generation sequencing." This efficient and all pregnancies.* But these mutations arise in the fetus,
inexpensive means to sequence DNA has revolutionized so expanded carrier testing will not identify couples at
Arthur L. Beaudet
the study of genomics and risk. However, screening IVF
is a professor in
could play a major role in fu embryos for de novo mu
the Department
ture preimplantation genetic tations across the genome
at high resolution is now of Molecular and
screening approaches. It
Human Genetics
may even improve screening theoretically possible with
during early pregnancy. next-generation sequencing. at Baylor College
For 25 years, preimplan For example, this technique of Medicine,
tation genetic diagnosis has could be applied to DNA Houston, TX. He is
been used in circumstances from one to a few cultivated also Chief Medical
where there is a high risk IVF embryonic cells, similar Officer at Baylor
of a specific genetic defect to the prenatal analysis of Miraca Genetic

in an embryo created by in fetal DNA in the mother's Laboratories, a for

vitro fertilization (IVF). If plasma to detect aneuploidy. profit joint venture
one or both genetic parents This deep sequencing re partially owned by
have a known genetic defect, quires unbiased whole-ge Baylor College of
testing can be performed on nome amplification starting Medicine that offers
a single cell from an IVF em with one or a few embryonic commercial genetic
bryo to determine whether cells, and multiple efforts are laboratory testing.
it would be affected with a being made to achieve this.
E-mail: abeaudet@
serious disorder. For many "...it should be possible to prevent Through a combination bcm.edu
people undergoing IVF, new of expanded carrier test
diagnostics are welcome, less the occurrence of...single-gene ing and preimplantation
risky alternatives to common disorders in children..." genetic diagnosis for in
prenatal testing for genetic herited mutations, and pre
implantation genetic screening with next-generation
disease (amniocentesis or chorionic villus sampling),
sequencing
which, if the diagnosis is unfavorable, can result in dif of most or all of the genome, it should be
possible to prevent the occurrence of a great majority
ficult decisions about whether to continue the pregnancy.
of both inherited and de novo single-gene disorders in
In 2011, next-generation sequencing was used to simulta
children conceived through IVF. Furthermore, if new
neously analyze carriers for more than 400 target genes
associated with severe childhood recessive diseases,*technologies allow the recovery of a few fetal cells from
helping to spur the availability of expanded carrierthe mother's circulation during the first trimester of
test
ing for disease-associated genetic defects. Earlier this
pregnancy, these diagnostics could theoretically detect
severe deleterious genetic variations and mutations for
year, several genetic and medical organizations issued
all pregnancies and allow parents to consider the ter
a clarification to the genetic and clinical communities
mination of pregnancy. As these sophisticated diagnos
on the current state of the art of such carrier testing.!
Another more recent approach called preimplantation tics evolve, raising difficult choices for some parents,
genetic screening was introduced to detect aneuploidysociety is likely to debate their use, interpretation of
(abnormal chromosome number) in IVF embryos derived results, and costs. It is critical that the biomedical and
from genetically normal parents. Both preimplantationscientific communities continue to engage with each
genetic diagnosis and screening advanced through other
tech and with the public to ensure that the future vi
niques that now allow longer in vitro cultivation of sion
em of using next-generation sequencing in diagnostics
bryos (thereby providing more cells for analysis) andremains
that clear.
detect gene copy number across all chromosomes using - Arthur
Arthur L.
L. Bean
Beaudet
del

*C. J. Bell etal.,Sci. Trans!. Med. 3,65ra4(2011). fJ. G. Edwards eta/., Obstet. Gynecol. 125,653 (2015).
tJ. de Ligt et at., Curr. Opin. Genet. Dev. 23,257 (2013). 10.1126/science.aad4803
PHOTS:(RIGHT)BAYLORC LEGOFMEDICN;(SET)©CIEN PICTUREO./CRBIS

SCIENCE sciencemag.org 25 SEPTEMBER 2015 • VOL 349 ISSUE 6255 1423

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