Harmonizing variant classification for return of results in the All of Us Research Program

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

10.1101/2021.04.18.21255364 ◽

2021 ◽

Author(s):

E Venner ◽

D Muzny ◽

JD Smith ◽

K Walker ◽

CL Neben ◽

...

Keyword(s):

United States ◽

Whole Genome Sequencing ◽

Genome Sequencing ◽

Research Program ◽

Disease Risk ◽

The United States ◽

Return Of Results ◽

Whole Genome ◽

Data Generation ◽

Health Related

AbstractThe All of Us Research Program (AoURP, ‘the program’) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the United States. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and returning important health-related information to participants. To do so, whole genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months. The accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted. We present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Future supplements to the IDE will be submitted to support additional variant classes, sample types, and any expansion to the reportable regions.

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Tinkering with cognitive gadgets: Cultural evolutionary psychology meets active inference

Behavioral and Brain Sciences ◽

10.1017/s0140525x19001018 ◽

2019 ◽

Vol 42 ◽

Author(s):

Paul Benjamin Badcock ◽

Axel Constant ◽

Maxwell James Désormeau Ramstead

Keyword(s):

Evolutionary Psychology ◽

Research Program ◽

Active Inference ◽

Innovative Research ◽

Cognitive Faculties ◽

Cultural Evolutionary ◽

The Relationship

Abstract Cognitive Gadgets offers a new, convincing perspective on the origins of our distinctive cognitive faculties, coupled with a clear, innovative research program. Although we broadly endorse Heyes’ ideas, we raise some concerns about her characterisation of evolutionary psychology and the relationship between biology and culture, before discussing the potential fruits of examining cognitive gadgets through the lens of active inference.

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