The All of Us program accelerates precision medicine

National Institutes of Health, USA

Study details unprecedented scale, diversity and strength of research program We all,

Researchers from various institutions have discovered more than 275 million previously unknown genetic variants, which have been identified from data shared by approximately 250,000 participants in the research programme. We all From the US National Institutes of Health (NIH). Half the genomic data comes from participants with non-European genetic ancestry. This unknown set of variants has been introduced by researchers New ways to better understand genetic influences on health and disease, especially in communities that have been left out of research in the past. The findings are detailed Naturealong with three other magazine articles Nature.

About 4 million of the new variants identified are in regions that may be associated with disease risk. Detailed genomic data in the study is available to registered researchers researcher scopeProgram platform for data analysis.

“As a physician, I have seen how the lack of diversity in genomic research has led to increased health disparities and limited patient care,” said Josh Denny, executive director of the research program. We all and one of the study’s authors. “data set We all has already inspired researchers to make discoveries that expand what we know about health, many of which would not have been possible without the contributions of our participants’ DNA and other health information. “Their participation is leading to a future in which scientific discovery is more inclusive, with greater benefits for all.”

We all
image: National Human Genome Research Institute.

Till today, More than 90% of participants in large genomic studies have been of European genetic ancestry, The directors of NIH institutes and centers reported in an opinion article published naturopathy This has given rise to a limited understanding of disease biology and has halted the development of new treatment and prevention strategies for all populations. They highlight that many researchers now use data set We all Advancing precision medicine for all,

For example, in a complementary study published in communication biologyA research team led by Baylor College of Medicine in Houston reviewed the frequency of genes and variants recommended by the American College of Medical Genetics and Genomics in different genetic ancestry groups in the data set. all of We. These genes and variants reflect the respective results of the Hereditary Disease Risk Program research presented to the participants. writers got one Significant variability in the frequency of variants associated with disease risk between different genetic ancestry groups and compared to other large genomic data sets.

Although more research is needed before these results can be used to tailor genetic testing recommendations for specific populations, researchers believe the difference in the number of these variants is due to the limited diversity of previous studies and their focused approach. May be affected by. disease for participant enrollment, rather than differences in variant prevalence.

In another study, researchers used a data set all of us for To calibrate and apply 10 polygenic risk scores for common diseases across different genetic ancestry groups., These scores calculate a person’s risk of disease by taking into account genetic factors and family history. Without taking into account variation, polygenic risk scores may produce inaccurate results that will misrepresent an individual’s disease risk and create unequal genetic instruments. Thanks for the diversity of data We all These polygenic risk scores are applicable to broad populations.

,We all It values ​​intentional community engagement to ensure that populations historically underrepresented in biomedical research can also benefit from future scientific discoveries,” says Kareem Watson, Ph.D., M.S., M. P.H., Program Engagement Director of Research said. all of We. “This starts with raising awareness and improving access to medical research so everyone has the opportunity to participate.”

To date, more than 750,000 people have signed up for We all, Over time, the program is expected to involve at least one million people who reflect the diversity of the United States and contribute DNA data, electronic health records, wearable devices, surveys, and more. The program periodically expands and updates the data set as more participants share information.

scientific articles:

All our research programs are genomics investigators. Genomic data across all our research programmes. Nature, 2024. DOI:

Bianchi, DW, Brennan, PF, Chiang, MF et al. The All of Us Research Program is an opportunity to increase the diversity of American biomedical research. net made 30, 330-333. 2024. DOI:

Weiner, E., Patterson, K., Kalra, D. and others. frequency of pathogenic variation in We all The group reveals lineage-based inequalities. Commun Biol 7174. 2024. doi:

Lennon, NJ, Kottayan, L.C., Kachulis, C. and others. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. net made 30, 480-487. 2024. DOI:

More information about the program We all,

#GeneticaMedica #GeneticaHumana #GeneticaClinica #MedicinaPrecision #VariecioGenetica #DiversidadGenetica #Genetica #GeneticaSalud

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