15 years of GWAS discovery: realizing the promise
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …
Here, we review how this experimental design has realized its promise by facilitating an …
Challenges and opportunities for developing more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
Problems with using polygenic scores to select embryos
Companies have recently begun to sell a new service to patients considering in vitro
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …
fertilization: embryo selection based on polygenic scores (ESPS). These scores represent …
Genetic risk factors have a substantial impact on healthy life years
The impact of genetic variation on overall disease burden has not been comprehensively
evaluated. We introduce an approach to estimate the effect of genetic risk factors on …
evaluated. We introduce an approach to estimate the effect of genetic risk factors on …
Whole-genome risk prediction of common diseases in human preimplantation embryos
A Kumar, K Im, M Banjevic, PC Ng, T Tunstall… - Nature medicine, 2022 - nature.com
Preimplantation genetic testing (PGT) of in-vitro-fertilized embryos has been proposed as a
method to reduce transmission of common disease; however, more comprehensive embryo …
method to reduce transmission of common disease; however, more comprehensive embryo …
Public views on polygenic screening of embryos
For decades, people have used genetic information to exercise control over the kinds of
children they will have. These technologies have largely targeted chromosomal and …
children they will have. These technologies have largely targeted chromosomal and …
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann, O Valcke, JR Vermeesch… - European Journal of …, 2023 - nature.com
Preimplantation genetic testing using polygenic risk scores (PGT-P) has recently been
introduced. However, PGT-P has been met with many ethical concerns. It is therefore …
introduced. However, PGT-P has been met with many ethical concerns. It is therefore …
Polygenic risk score for embryo selection—not ready for prime time
Numerous chronic diseases have a substantial hereditary component. Recent advances in
human genetics have allowed the extent of this to be quantified via genome-wide …
human genetics have allowed the extent of this to be quantified via genome-wide …
“Are we not going too far?“: Socio-ethical considerations of preimplantation genetic testing using polygenic risk scores according to healthcare professionals
M Siermann, O Valcke, JR Vermeesch, T Raivio… - Social Science & …, 2024 - Elsevier
The recent introduction of polygenic risk scores within preimplantation genetic testing (PGT-
P) has been met with many concerns. To get more insights into the perspectives of relevant …
P) has been met with many concerns. To get more insights into the perspectives of relevant …
Public attitudes, interests, and concerns regarding polygenic embryo screening
Importance Polygenic embryo screening (PES) is a novel technology that estimates the
likelihood of developing future conditions (eg, diabetes or depression) and traits (eg, height …
likelihood of developing future conditions (eg, diabetes or depression) and traits (eg, height …