Landmark study reveals 275 million new genetic variants

Scientists have taken a giant step in understanding human genes. The All of Us program just released a huge amount of data, including 275 million new genetic variants, that could change how we think about health and illness. 

Instead of medicine being the same for everyone, imagine treatments designed specifically for you, based on your unique genes. 

That’s the future the All of Us program is working towards. They have released genetic information from over 245,000 people, building the groundwork for healthcare as unique as you are.

Genetic basis of diseases

When someone gets sick, their genes can sometimes play a role. These genes, the blueprints for our bodies, hold instructions in the form of DNA. Sometimes, there are tiny mistakes or changes in this DNA called mutations. 

These mutations can affect how genes function, leading to disease or increasing the risk of developing certain health problems. Understanding this “genetic basis” of diseases is crucial for several reasons.

Doctors can use genetic testing to confirm diagnosis for diseases with known genetic causes, allowing for faster and more accurate interventions. They can also use it to assess someone’s or a family’s risk of developing certain diseases, enabling preventative measures or early treatment. 

Recent studies have already found some examples of how different genes can impact disease risk. For example, a gene called APOL1 is linked to kidney problems in people with African ancestry. Additionally, a new type of medicine for high cholesterol was discovered by studying the genes of people in Dallas.

All of Us program

The study sought to gather information from over a million people across the US, especially those typically left out of medical research. They explained the goals and got permission to use people’s genetic info and medical records.

Volunteers gave samples like blood or saliva. These were analyzed to get their full genetic makeup or specific variations. Medical records were also added to this genetic data. This connection allowed researchers to see how genes, health outcomes, and medical history were linked over time.

Researchers then used sequencing techniques to find differences in people’s genetic code compared to a standard. These differences were then studied to see how they might affect genes and proteins, and if they were linked to any known diseases.

Since people come from different backgrounds, the study analyzed the genetic data from various ancestries. This helped ensure the findings were accurate and applied to many groups, not just one. It also showed how gene-disease links might differ depending on ancestry.

Genetic diversity

The program identified a staggering 1 billion genetic variants, with over 275 million of them never seen before. This highlights that humans are super diverse. This diversity is key to understanding why people get sick and how to tailor treatments to their unique genes, a concept known as personalized medicine. 

Finding so many previously unknown variations significantly expands our knowledge of human DNA. This is especially important for figuring out how genes contribute to diseases and identifying potential targets for treatment.

Coding variants

Changes in genes that affect proteins, which control how our bodies function, are particularly interesting. These “coding variants” can directly impact health and disease. Finding many previously unknown coding variants shows there are gaps in our current genetic databases, especially for groups that haven’t been studied as much. This program’s findings help fill those gaps and improve our understanding of human genetic diversity.

It’s also important to differentiate between rare and common variations. Most of the coding variants found are rare, meaning fewer than 1% of people have them. This emphasizes the importance of studying large and diverse groups to capture all the variations. Rare variations can be especially helpful for understanding rare diseases or why some groups are more susceptible to certain common diseases.

Furthermore, the program analyzed how disease-causing or likely disease-causing variations are distributed across different ancestral groups. The knowledge is crucial for developing more inclusive and effective healthcare strategies that consider the specific genetic risks of different ancestries.

Importance of the study

This study did even more than just find new genetic information. It showed that the data collected by the All of Us program is really reliable, because the researchers were able to confirm already known links between genes and diseases, even in a group of people with many different backgrounds. This means the data can be used to find even more genes that cause diseases.

The way the study was done is a perfect example of how personalized medicine could work. They combined people’s genes with their medical records, which could help doctors give treatments that are best for each individual, based on their own unique DNA. This could lead to much better healthcare in the future.

“Sequencing diverse populations can lead to new drug targets that are relevant to everyone. It can also help uncover disparities that lead to specific treatments for people that are experiencing higher burdens of disease or different diseases,” said Dr. Josh Denny, a study author and its chief executive.

Public initiative

The All of Us Research Program wants to make genetic data easily accessible to scientists, fueling discoveries and improving healthcare.

The program gives researchers a secure online space to analyze the data. Partnering with universities streamlines access even more. This saves money and lets everyone, even those without expensive computers, join the research.

With such diverse data, scientists can dig into the roots of diseases, see how genes affect different people, and pave the way for personalized medicine for all. 

More about the research program

The All of Us Research Program, initiated in 2015 with $130 million funding under Barack Obama’s presidency, is a groundbreaking initiative aimed at tailoring medical care to individuals. 

This ambitious project seeks to collect genetic and health data from one million volunteers to accelerate health and medical breakthroughs, thereby enabling individualized prevention, treatment, and care. 

Managed by the National Institutes of Health (NIH), the program is bilingual, offering materials in both Spanish and English, to ensure broad accessibility and inclusivity. 

With a focus on diversity, All of Us aims to include participants from traditionally underrepresented groups, making significant strides in personalized medicine and healthcare.

The research is published in Nature.

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