Polygenic embryo screening: towards informed decision-making

Ended Project Grant Awarded Last action

Award ID
R01HG011711
Recipient
Awarding agency
Obligated
$15,197,153

Award facts

Assistance listing
93.172 Human Genome Research
Completion date
Originally
Funding
  • $13,724,738.00 Federal
  • $1,472,415.00 Non-federal
Place of performance
New York, USA

Award details come from USAspending.gov.

Description

Abstract
Preimplantation genetic testing (PGT) has been utilized for years to avoid implantation of embryos harboring rare monogenic disease-causing alleles or aneuploidies. However, recent progress in complex trait genetics, coupled with the technical ability to generate accurate genome-wide genotypes from single-cell input, has made IT possible to genetically screen embryos for common polygenic traits and disease risk. While popular media has raised the specter of ''designer babies,'' and private industry has begun to offer services of dubious merit, little empirical work has been done to quantify the utility of polygenic embryo screening (PES), examine its ethical implications, and assess stakeholders' perspectives. Unlike conventional PGT, polygenic risk scores are intrinsically probabilistic and multifaceted. The inherent ambiguities of PES requires careful consideration in order for clinicians, policymakers, and the general public to make informed decisions about the potential consequences of implementing polygenic embryo screening. Moreover, although research momentum for polygenic risk scores has grown exponentially in the last few years, there is almost no independent, empirical data on either: 1) the potential ability of PES to produce desired outcomes under various real-world scenarios; or 2) the perspectives and attitudes of front-line clinicians in the potential clinical application of polygenic risk scores, especially in the prenatal context. In order to build an initial framework for the consideration of the ethical, legal, and social implications (elsi) of PES, IT is necessary to establish two sets of empirical parameters: first, the statistical properties that will shape the potential application of polygenic risk scores in the prenatal setting; and second, the attitudes and perspectives of clinicians who would be at the front lines of administering PES, including genetic counselors, reproductive endocrinologists, and obstetricians. The proposed study therefore aims to quantify the range of realistic outcomes of PES in the context of disease risk reduction under varying conditions, using a combination of simulated and real data. We also aim to understand the perspectives of clinicians who would potentially deliver PES, using both in-depth interviews and a large-scale survey of reproductive clinicians and geneticists. In the proposed research project, these two aims will be interdigitated and mutually informative; statistical investigation will be guided by concerns and questions posed by stakeholders, and stakeholder interviews and surveys will be shaped by the statistical and methodological understanding obtained from our analyses. On the basis of our results, we will perform ethical analysis of this rapidly evolving technology.

Transactions

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Subawards

Subrecipient Amount Awarded
Hebrew University Of Jerusalem (The) PolygenicEmbryoScreening:TowardsInformedDecision-Making $89,160
The General Hospital Corporation $122,348
The General Hospital Corporation $122,729
Baylor College Of Medicine $282,835
President And Fellows Of Harvard College $161,850
President And Fellows Of Harvard College $275,953
Baylor College Of Medicine $277,755
Hebrew University Of Jerusalem (The) $97,216
President And Fellows Of Harvard College $159,145
Baylor College Of Medicine $202,306
Hebrew University Of Jerusalem (The) $87,900
Baylor College Of Medicine $207,909
President And Fellows Of Harvard College $88,706
Hebrew University Of Jerusalem (The) $87,293
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Quick answers

Who received award R01HG011711?

R01HG011711 was awarded to The Feinstein Institutes For Medical Research by National Human Genome Research Institute (National Institutes of Health) on June 1, 2021.

How much is award R01HG011711 worth?

$15,197,153 has been obligated on R01HG011711: $13,724,738 in federal funding and $1,472,415 in non-federal funding.

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