- Our DNA tells us many stories about ourselves and includes thousands of markers for disease and health. Emerging tools now allow families to identify and reduce the risk of passing them on.
- Genomic testing is moving from niche to the mainstream. What once cost billions of dollars can now be done for hundreds, opening the door to routine use in moments that matter, from adult DNA testing to understanding the health of your future child born through IVF.
- State-of-the-art, AI-driven models have enabled us to decode complex diseases and datasets. As models grow more robust and diverse, genetic insights will empower people everywhere to optimize for generational health.
- Early awareness and detection of single-gene conditions like Long QT Syndrome, cystic fibrosis, or Lynch Syndrome can lead to simple interventions that prevent tragedy and extend lifespans.
- When having kids through IVF, parents can now analyze over 2,000 factors that can shape the health and well-being of their future child.
KEY INSIGHTS:
We all know people who seem to have hit the lottery when it comes to their health. They hardly exercise, eat what they want, and somehow manage to thrive. While most of us become regulars at doctors’ offices as we age, these lucky few lead medically uneventful lives. We chalk it up to good fortune — family trees free of major health risks and perhaps even protective genes that guard against chronic disease.
But what if it wasn’t just luck? What if passing on generational health was something families could actively understand and influence?
There are thousands of human diseases that stem from mutations in a single gene. Even common conditions like Type 2 diabetes or Alzheimer’s are deeply influenced by the genetic blueprint we inherit. Imagine being able to reduce — or even eliminate — these hidden vulnerabilities tucked away in family DNA, strengthening the health of future generations.
“Imagine being able to reduce — or even eliminate — these hidden vulnerabilities tucked away in family DNA, strengthening the health of future generations.”
That possibility is closer than we think. In 2003, the Human Genome Project completed its monumental task of mapping every letter of our DNA at a cost of $3 billion. Today, thanks to astonishing advances in sequencing and computing, the same whole-genome analysis can be done on any individual for a few hundred dollars. What was once the domain of government funding and global labs is becoming accessible to families everywhere.
Genetic testing has already reshaped how we understand ourselves. Companies like 23andMe and Ancestry opened doors to the past, uncovering hidden family ties and surprising ancestral roots. The next era is about going beyond simple discovery and unlocking a new approach to preventative health. By giving families access to their complete genetic blueprint, we can unlock the power to make informed choices that can lighten the burden of disease, offering the promise of longer, healthier lives.
Knowledge is power
To understand why I believe so strongly in the power of genetic technology, allow me to share a personal story about my cousin. At age 16, she died suddenly in her sleep. It was a tragedy that felt completely senseless at the time. She was a healthy kid, no different from me or anyone else our age.
Doctors later determined that the cause was Long QT Syndrome, a genetic heart-rhythm disorder that silently affects about 1 in 2,000 people. It can trigger fainting, seizures, or sudden cardiac arrest.
The real heartbreak was realizing that Long QT Syndrome doesn’t have to be a death sentence. Taking a simple daily medication, like a beta-blocker, is often effective in reducing the heart’s excitability and the likelihood of incident. Avoiding certain medications or stimulants like caffeine can also make a big difference.
That was the aha moment for Nucleus: A DNA test, had it been available at the time, would have helped save my cousin’s life. It would have revealed not only that she carried the mutation, but which subtype she had and what specific triggers put her at risk.
This is when I started to do the research that would lead to the beginnings of Nucleus. For relatively straightforward single-gene disorders, like Long QT Syndrome, cystic fibrosis, sickle cell anemia, and Huntington’s disease, testing is now highly precise. It can show whether someone is a carrier and how likely they are to develop the condition. This knowledge can empower families to take proactive and often simple steps to protect their children.Imagine if this became a routine choice for parents. A quick cheek swab in the hospital after birth could flag conditions before symptoms ever appear. A newborn identified with hemochromatosis — a condition where the body absorbs too much iron — could avoid organ damage through regular blood donations. A child born with Lynch Syndrome — a genetic driver of colorectal and other cancers — could begin early screenings that prevent tumors from ever advancing. Of the 1.1 million Americans who have this condition, 95% don’t realize it. Even knowing a baby has celiac disease could spare years of painful, undiagnosed illness. None of these conditions are curable, but with the right interventions, they can be managed to both preserve health and extend someone’s lifespan.
“A quick cheek swab in the hospital after birth could flag conditions before symptoms ever appear.”
The frontier of complex disease
The science of genomics is more nuanced when it comes to chronic, multi-gene conditions like diabetes, heart disease, Alzheimer’s, and autoimmune disorders. But here, too, progress is accelerating. Genome-wide association studies have uncovered thousands of genetic variants that collectively shape risk. State-of-the-art genetic models developed by companies like Nucleus, and powered by the latest in AI, can now synthesize this data to generate enormously consequential risk profiles.
Take Type 2 diabetes: About 70% of risk is genetic, with hundreds of genes playing a role in how the body regulates insulin, blood sugar, and fat storage. Today, models can account for roughly 10% of that genetic contribution. We’re still mapping the rest of the genetic landscape. But within the next decade, advancements in sequencing and computation will likely unlock a much greater understanding of genetic risk.
Height is another powerful proof point. By analyzing DNA from a variety of populations covering five million people, researchers have pinpointed more than 12,000 sequencing variants tied to this trait, which is about 80% genetic. Now, just by analyzing someone’s DNA sequence data, a computer can predict their height within a few inches.
Although there’s not much anyone can do to become taller (or shorter), the bottom line is that many chronic diseases are not inevitable. It’s important to remember that DNA is not destiny. Lifestyle and environment matter enormously. Genetic knowledge gives people the chance to make choices that can change outcomes.
Beyond infertility: Reimagining IVF
Genetic insight can be powerful at any stage of life, but its impact is greatest before conception. For couples planning a family, understanding genetics represents one of the most powerful tools in modern medicine. Whole genome testing can reveal the risks of inherited diseases, while IVF offers a practical pathway to remove those risks from a pregnancy. Together, they give parents an effective way to shape generational health.
“For couples planning a family, understanding genetics represents one of the most powerful tools in modern medicine.”
Today, IVF embryos are routinely screened for a narrow subset of criteria. This includes chromosomal abnormalities such as Down syndrome and trisomy 18, as well as general viability and sex. At Nucleus, we expand testing to cover a much broader range of conditions, giving families far more options to safeguard their children’s health. We are now calculating risk scores for more than 2,000 different conditions, including over 30 polygenic risks, such as diabetes, heart disease, Alzheimer’s, and certain cancers.
Dating redefined
Genetic insights can apply even earlier, before meeting the person you might have children with. Let’s say DNA testing reveals a person is a carrier for the brain disorder Huntington’s disease or has a significantly elevated genetic risk for a condition like schizophrenia. That individual could choose to use this information to make decisions about compatibility with potential partners. While this concept may seem unconventional, genetic screening is already standard practice when someone does a sperm or egg donation. As a carrier for cystic fibrosis, I know I would not want to be matched with someone who is also a carrier. As the cost of whole-genome testing continues to fall, it’s not hard to see a future where single people like myself may decide they want to share selective parts of their genetic data with dating platforms, which could then integrate it into their compatibility algorithms.
A revolution in the making
Genomic science will continue to deepen our understanding of the genetic underpinnings of chronic disease, allowing AI-driven models like those at Nucleus to become more and more accurate at decoding complex diseases. At the same time, researchers are building larger, more inclusive datasets of human DNA. To date, most genome-wide association studies have focused primarily on people of European descent, leaving gaps in accuracy for individuals of African, Asian, Indigenous, and Latin American ancestry. At Nucleus, we are building models that both adjust for different ancestries and incorporate greater amounts of ethnically diverse data. These advances will help ensure that breakthroughs in genetic testing benefit everyone.
We’re just at the beginning of a revolution in human health. As sequencing costs continue to plummet and models sharpen, families will be able to understand and actively influence health — before conception, at birth, and across life. Genetic matching, embryo screening, and newborn whole-genome data won’t replace good medicine or healthy living; they’ll supercharge both, allowing health and longevity to begin before birth.
