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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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22 hot topic(s) found with the query "Preimplantation genetic testing"

Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann et al, EJHG, March 20, 2023 (Posted: Mar 21, 2023 9AM)

We found that most healthcare professionals were concerned about the prematurity of introducing PGT-P into clinical practice. They had various ethical considerations, such as concerns related to validity and utility of PGT-P, limited embryos and options, and difficulties for prospective parents regarding comprehension and informed decision-making. Positive aspects were also identified, e.g., regarding reproductive autonomy and potential health benefits. Overall, most healthcare professionals considered that clinical implementation of PGT-P is premature.


Economic evaluation of population-based expanded reproductive carrier screening for genetic diseases in Australia
D Schofield et al, Genetics in Medicine, February 12, 2023 (Posted: Feb 13, 2023 7AM)

Expanded RCS was cost-saving compared with no population screening and cost-effective compared to the three-condition screening (ICER of $6,287 per QALY gained) at an uptake rate of 50% for RCS, 59% for IVF and preimplantation genetic testing, 90% for prenatal diagnosis testing and 50% for elective termination of affected pregnancies and a cost of A$595 per couple screened.


The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
L Freeman et al, Genetics in Medicine, June 3, 2022 (Posted: Jun 06, 2022 7AM)

Most studies indicated interest in the use of prenatal diagnosis for deafness. However, there were mixed views, and sometimes strongly held views, expressed regarding the reproductive options that should be available to those with an increased chance of having a child with deafness. Studies were small, from a limited number of countries, and most were too old to include views regarding preimplantation genetic testing.


Polygenic embryo testing: understated ethics, unclear utility
J Johnston, Nature Medicine, March 21, 2022 (Posted: Mar 22, 2022 11AM)

New technologies are expanding the reach and accessibility of preimplantation genetic testing of human embryos. But what these advances can deliver is still unclear, and a frank assessment of their profound ethical implications is urgently needed.


Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology.
Lázaro-Muñoz Gabriel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct (Posted: Oct 28, 2020 8AM)

Polygenic embryo screening (PES)—the use of polygenic risk scores for complex phenotypes as a component of preimplantation genetic testing (PGT)—has emerged as a commercially available service, despite almost no public deliberation about its ethical, clinical, and societal implications.


How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
I van Dijke et al, EJHG, August 9, 2020 (Posted: Aug 10, 2020 9AM)

Couples at increased risk of having offspring with a specific genetic disorder who want to avoid having an affected child have several reproductive options including prenatal diagnosis, and preimplantation genetic testing. In the future, non-invasive prenatal diagnosis, germline gene editing and somatic gene editing might become available.


Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Treff Nathan R et al. European journal of medical genetics 2019 Apr (Posted: May 01, 2019 9AM)


The Power of Preimplantation Genetic Testing
S Karipcin, US News, January 3, 2019 (Posted: Jan 04, 2019 9AM)


Preimplantation genetic testing in the 21st century: uncharted territory.
Brezina Paul R et al. Clin Med Insights Reprod Health 2013 Feb 10. 17-21 (Posted: Feb 23, 2015 10AM)


Presymptomatic and preimplantation genetic diagnosis: neurology, NextGenetics, and the next generation.
Wilson Golder N et al. JAMA Neurol 2014 Apr (4) 403-4 (Posted: Feb 23, 2015 10AM)


Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.
Uflacker Alice et al. JAMA Neurol 2014 Apr (4) 484-6 (Posted: Feb 23, 2015 10AM)


Preimplantation diagnosis for single gene disorders.
Berger Victoria K et al. Semin. Reprod. Med. 2014 Mar (2) 107-13 (Posted: Feb 23, 2015 10AM)


Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.
Gleicher Norbert et al. Reprod. Biol. Endocrinol. 2014 22 (Posted: Feb 23, 2015 10AM)


New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies.
Milachich Tanya et al. Biomed Res Int 2014 306505 (Posted: Feb 23, 2015 10AM)


Preimplantation genetic diagnosis and rational choice under risk or uncertainty.
Zuradzki Tomasz et al. J Med Ethics 2014 Nov (11) 774-8 (Posted: Feb 23, 2015 10AM)


Preimplantation genetic diagnosis for inherited neurological disorders.
Tur-Kaspa Ilan et al. Nat Rev Neurol 2014 Jul (7) 417-24 (Posted: Feb 23, 2015 10AM)


Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.
Chen Hsin-Fu et al. Gene 2014 Sep 15. (2) 299-305 (Posted: Feb 23, 2015 10AM)


Neonatal outcome after preimplantation genetic diagnosis.
Eldar-Geva Talia et al. Fertil. Steril. 2014 Oct (4) 1016-21 (Posted: Feb 23, 2015 10AM)


Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study.
Gianaroli Luca et al. Fertil. Steril. 2014 Dec (6) 1692-9.e6 (Posted: Feb 23, 2015 10AM)


First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.
Rechitsky Svetlana et al. Fertil. Steril. 2015 Feb (2) 503-12 (Posted: Feb 23, 2015 10AM)


Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing.
Tan Yueqiu et al. Gigascience 2014 (1) 30 (Posted: Feb 23, 2015 10AM)


Clinical applications of preimplantation genetic testing
Paul R Brezina et al. BMJ 2015; 350 (Published 19 February 2015) (Posted: Feb 23, 2015 10AM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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