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Nucleus Genomics: Revolutionizing Healthcare with Whole-Genome Sequencing


Nucleus Genomics: Revolutionizing Healthcare with Whole-Genome Sequencing
Nucleus Genomics is actualizing the vision initially sparked by the Human Genome Project, which is to utilize genomics to enable individuals to lead healthier and longer lives.

The health application developed by Nucleus leverages the capabilities of whole-genome sequencing (WGS). WGS is an all-encompassing technique for examining entire genomes, with the ability to detect DNA variants that have both subtle and significant impacts. Unlike most other DNA analyses, WGS can reveal risks for prevalent conditions such as cardiovascular disease and cancer, and can also detect numerous rare genetic disorders.

Currently, Nucleus is collaborating with Illumina to expand their ambition of using WGS to create a more proactive healthcare system where individuals have more control. This initiative comes in the wake of a drastic reduction in the cost of sequencing a genome and aims to make WGS more accessible to the public.

The mission was born out of a tragic event. In 2005, Kian Sadeghi, the founder and CEO of Nucleus, lost his 16-year-old cousin who passed away unexpectedly in her sleep. Medical professionals speculated that she might have had long QT syndrome, a rare inherited heart condition. Sadeghi’s parents attributed it to “bad genetics.”

Sadeghi realized that a health platform that integrates genomics and lifestyle data to assess disease risks could have significantly impacted his family’s life. “That’s what we aspire to construct for everyone. That’s the potential of Nucleus,” says Sadeghi.

Sadeghi concentrated on developing a web application that would transform people’s understanding of how their DNA influences their health and well-being. After conducting thorough research, he envisioned a consumer application that incorporated the latest advancements in genomic technology and analysis, particularly WGS.

He brought together a core team of scientists, clinical geneticists, engineers, operators, and writers with diverse skills and expertise. According to Sadeghi, the strength of Nucleus lies in the team’s shared enthusiasm for introducing a unique and revolutionary product to people’s daily healthcare experience.

In 2022, Nucleus secured a total of $18 million in funding, primarily from Seven Seven Six, a venture capital firm founded by Reddit’s Alexis Ohanian, and Founders Fund, led by Peter Thiel.

“Our product will ultimately combine more than 70,000  separate genetic tests into one,” says Sadeghi. “We won’t need to have tens of thousands of different laboratories each offering a different genetic test. WGS supersedes nearly all the others, from single-gene tests for hereditary cancers to small panels and carrier screenings for rare diseases.”

Nucleus offers polygenic risk scores (PRS), an analytical method that demonstrates the cumulative effect of common DNA variants on an individual’s risk of disease and trait predispositions. The PRS analyses conducted by Nucleus can encapsulate the collective influence of over a million of these prevalent variants on each person’s health and wellness.

Their analysis takes it a step further by integrating genetic data with non-genetic information to provide a more holistic view of a user’s risk. Understanding factors such as age, body mass index, cholesterol levels, and sex assigned at birth allows Nucleus to provide both relative genetic risk percentiles and individual estimates of absolute risk. Each report presents the figures through clear visuals and comprehensible language.

“We recognize the significance of making genetic information accessible to consumers, and the equal obligation to maintain the strict confidentiality of such crucial information and ensure it remains under their complete control,” states Varun Jana, Nucleus’s Chief Technology Officer. “Nucleus will enforce some of the most rigorous data privacy and security measures in the healthcare industry.”

The company aims to increase the diversification of genomics datasets. They strive to improve the relationship between the scientific community and communities that have historically been underserved and underrepresented in medical and genetic research.

“Our team originates from four continents,” declares Sadeghi. “That diversity reflects what we aim to establish in genetic databases. One of our top priorities at Nucleus is to create a more equitable future in genomics.”

While it may be a long-term objective, the Nucleus platform currently compensates for such disparities in genetic data. “We statistically adjust for people of different ancestries, enabling anyone to obtain valuable and useful insights into their genetic predisposition. It’s a challenging problem to address, but we’re making steady progress towards the goal every day.”

Nucleus has obtained CLIA certification and is seeking CAP accreditation for its WGS informatics laboratory. The platform is set to launch in the US in 2024.

“Our objective is to significantly promote the integration of genetics into the healthcare ecosystem,” Sadeghi articulates, “and to pave the way for a new epoch of preventive healthcare.”