275 Million New Genetic Variants Successfully Identified

Researchers have identified more than 275 million previously undocumented genetic variants.

The following article was translated using both Microsoft Azure Open AI and Google Translation AI. The original article can be found in 275 Juta Varian Genetik Baru Berhasil Diidentifikasi

KOMPAS/AHMAD ARIF

Officials from the community health center assisted in collecting blood samples from residents of Hupu Mada Village, Wanokaka District, West Sumba, East Nusa Tenggara. The genetic sampling is part of research on the origins and diaspora of human beings in Indonesia, conducted by the Eijkman Molecular Biology Institute.

JAKARTA, KOMPAS - Researchers have successfully identified over 275 million genetic variants that were previously unrecorded. The identification of these new variants can provide insights into the genetic influence on health and disease.

The identification of this new genetic variant was carried out by researchers from the National Institute of Health (NIH), United States, through the All of Us research program. Three complete reports of the discovery of this new genetic variant have been published in the journal Nature on February 19, 2024.

In this study, researchers identified data from 250,000 participants who took part in the All of Us research program, some of whom are of non-European genetic descent. Their involvement is crucial because up until now, over 90 percent of participants in genomic studies have been of European genetic descent.

Researchers also found that nearly four million new variants identified are in areas that are likely related to disease risk.

Josh Denny, CEO of the All of Us Research Program and author of the study, stated that as a doctor, he has seen the impact of the lack of diversity in genome research, which creates health disparities and limits access to care for patients. This new genetic variant data has directed researchers towards findings that expand knowledge about health.

KOMPAS/RIZA FATHONI

The RSIA Tambak genetics laboratory research assistant examines specimens in a laminar device using the PCR method from DNA examination at the Tambak Mother and Child Hospital, Menteng, Central Jakarta, Wednesday (26/7/2023). This examination is to examine suspected cases of thalassemia or blood disorders.

"The participation of the participants in this program has contributed to the future through more inclusive scientific discoveries that can benefit the wider community," he said, as quoted from the official NIH website on Wednesday (21/2/2024).

Until now, more than 750,000 people have registered for the All of Us research program. The program aims to involve at least one million people who reflect the diversity of the United States and contribute DNA data.

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Researchers emphasize that the data on new genetic variants from the All of Us program is crucial in advancing precision medicine for everyone. For example, a team of researchers led by Baylor College of Medicine in Houston, US, has reviewed gene frequency and variants in various genetic groups worldwide.

Variant frequency

In the research, the researchers found significant variability in the frequency of variant associated with disease risk. This frequency occurs among genetic descent groups that are different compared to other large genomic data sets.

The participation of program participants has contributed to the future through more inclusive scientific discoveries with benefits that can be felt by the wider community.

In another separate study, researchers from the eMERGE program utilized fresh genetic variant data from All of Us to calibrate and apply 10 polygenic risk scores. The analysis was employed to examine common diseases across various genetic ancestry groups.

KOMPAS/RADITYA HELABUMI

The activities of laboratory staff are visible while testing DNA samples (deoxyribonucleic acid) in the Asaren laboratory, a biotechnology start-up company in Jakarta, Thursday (20/10/2022). Apart from finding out health information, DNA testing can also be used for many things, especially related to genetic information. This DNA test is also one of the methods used by urbanites to find out their origins.

The polygenic risk score can calculate a person's disease risk by considering their genetic factors and family history. Without considering diversity, the polygenic risk score can result in errors in describing a person's disease risk and create skewed genetic tools. Therefore, without diverse genetic data, the polygenic risk score can only be applied to a portion of the population.

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. The Chief Engagement Officer of the All of Us Research Program, Karriem Watson, has stated that they appreciate the participation of participants from various populations in this research program. Populations that have been historically underrepresented in biomedical research can also benefit from future scientific discoveries.

"We can begin by building awareness and improving access to medical research so that everyone has the opportunity to participate," he said.