Aurea's father came upon polygenic risk scores after reading a news article about it

Aurea is the first US baby born following polygenic analysis

The child, born in May 2020, was selected by her parents to optimize for certain health qualities based on an analysis of her multifactorial genes by a New Jersey-based company called Genomic Prediction. Her embryo was selected for implantation based on polygenic risk scores for heart disease, diabetes, and cancer.

What the heck is a polygenic risk score?

Being able to predict an individual’s risk of common conditions is regarded by many as the holy grail. So, where are we now?

Polygenic scores aim to predict traits based on the contributions of many genes

These novel tests for multifactorial conditions evaluate the probability of traits like elevated blood pressure, diabetes, or high cholesterol based on what researchers currently know about different gene variants and their links to various traits. The tests are predictive, not definitive, partly because environmental factors influence the expression of genes. What's more, knowledge about cumulative effects from individual genes continues to evolve. The American Society for Reproductive Medicine states that these tests are too unreliable and nascent for clinical use.

Silicon Valley startups Orchid, Nucleus, and Genomic Prediction are selling so-called polygenic tests for prospective parents

These tests claim to show how at-risk a hypothetical baby would be for genetic syndromes. The newfound industry has prompted ethical and medical debates, with critics questioning their accuracy and highlighting the potential problems behind pursuing the perfect baby.

Selecting an embryo based on polygenic score is illegal in the UK, Israel, and swaths of Europe

Though their use for embryo selection is illegal in many locations, private clinics in the US may offer polygenic scores to inform embryo selection. The US Food and Drug Administration has not banned their use—instead the tests are regulated like supplements, meaning they are not regulated before they come to market but consumers can file complaints and then the agency may take action.

Why genetic testing for Alzheimer's risk may not be right for you

Medical experts warn that completing Alzheimer's testing for late-onset versions of the disease can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications, including for one's finances. Learning you have one or two copies of the APOE4 gene variant, which elevates Alzheimer's risk, can be panic-inducing, but an elevated risk for the disease is not the same as saying it definitely will develop.

Many of the new prenatal genetic tests for rare genetic conditions are inaccurate

Established screening tests for Down syndrome in utero are reliable and accurate. But a New York Times investigation into expanded prenatal genetic tests for very rare diseases—much rarer than Down syndrome—found that more than 80 percent of the positive test results turned out to be wrong based on follow-up testing. These expanded tests for rare diseases are performed from a blood draw at 10 weeks of pregnancy and aim to detect chromosomal abnormalities linked to rare diseases. Companies that offer these controversial tests counter that it's only a screening test—not a diagnosis—picking up true positives and noting that patients can and should be counseled about what the findings mean. (Some users may encounter a paywall.)

The promises and perils of using at-home genetic tests for your health

A primer on genetic testing, personalized medicine, and the promise of pharmacogenomics–the use of genetics to predict an individual's response to a drug.

At-home genetic testing results commonly led users to healthier lifestyles

Italian research that aimed to investigate what people do longer-term after receiving direct-to-consumer genetic test results indicated that whether the results were positive or negative, people tended to adopt a healthier diet after receiving the results, and they'd still maintained it a year after receiving their results. Some users also reported an overall reduction in stress over their health concerns. (Some users may encounter a paywall.)

US regulators have approved an at-home genetic test looking for BRCA gene mutations

The direct-to-consumer genetic test, approved by US regulators in 2018, examines 3 out of the more than 1,000 known breast cancer-linked genetic mutations. It looks for genetic variations that can increase risk for breast, ovarian, and other cancers. These mutations are most commonly found among Jewish people with Eastern European ancestry.

Genetic tests aren't always actionable, which is one reason genetic counselors are so vital

This podcast interview with a Harvard Medical School professor focused on cancer genetics and prevention discusses the specifics of genetic testing and insights and the challenges of processing the outcomes of the testing and what may be actionable—or not.

Precision medicine, offering the right treatment at the right time for individuals, integrates genomics, data analytics, and AI to predict risks, personalize treatments, and improve patient outcomes.

Minorities are largely underrepresented in medical research, which compromises our understanding of how conditions and treatments may affect various populations, but recent efforts, like the African Ancestry Neuroscience Research Initiative and new genome research studies, are seeking to close that gap.

Genetic blood test offers an estimated clock on when Alzheimer's symptoms may appear

The 2026 research finding from researchers at Washington University School of Medicine in St. Louis—if validated in broader populations—suggests that an already available blood test could estimate when Alzheimer's symptoms may begin within a margin of several years. The test detects a protein called p-tau217 found in blood plasma and the researchers incorporated the findings from that blood test into a statistical model to come up with the symptom timeline predictions.

A physician with a rare and deadly disease saved his own life by identifying an existing medication that he repurposed for his condition, and now he's using AI to try to do the same for other patients.

Advance genetic research by playing these scientific video games

Computers produce so much information that researchers can't properly analyze all the data produced, and the overload can also lead computers to make mistakes. Researchers are increasingly turning to citizen scientists—members of the public who are willing to volunteer—to help them make sense of data when computers can't. This article details a few of the ways you can contribute to genetics research by playing video games.

Gene therapy, a hope of the Human Genome Project, has successfully treated a baby born with a rare urea cycle disorder that causes toxic ammonia level buildup.

Modern genetic testing stems from a 1950s discovery about the cause of Down syndrome.

A man’s genes can predict his hairline

There’s actually some truth to the idea that you should look at your mother’s father. But genetic research tells us that the full picture is somewhat more complicated. An interesting read on how to use genetics to figure out if you'll go bald (with illustrations).

Here’s how different genetic disorders get passed on

The human genome is complex, as identified by the Human Genome Project. This article digs in to genetic disorders, the most common ones, and how they are diagnosed.

How personalized gene-editing saved a baby's life

KJ Muldoon had a 50% chance of surviving a genetic mutation until doctors developed a one-of-a-kind gene-editing therapy. In an interview with one of the researchers behind the treatment, learn what it will take to make personalized genetic medicine possible for everyone.

Spotify and AncestryDNA launched a genetic music playlist offering

The playlist offering in 2018 purported to make a unique playlist based on cultural inheritance. The service required users to link their account, select the top five ethnic regions from their AncestryDNA results, and then Spotify would create the playlist based on that data.

As Anthropic's CEO, Dario Amodei's vision for AI has been inspired by the loss of his father to an illness that was made 95% curable four years after his passing.

Genetic drug matching, called pharmacogenomics, can help avoid dangerous drug reactions

Certain gene variants can affect how quickly or slowly medications are broken down in the body, affecting drug effectiveness and the risk of drugs failing. Such testing is often not covered by insurance companies though research indicates if these tests were performed for more than six drugs across the US population, avoided ailments would likely climb into the hundreds of thousands. (Some users may encounter a paywall.)

Researchers are exploring neural links between Alzheimer's and autism

Recent DNA sequencing and molecular biology studies suggest that similarities in genes, neural circuitry and patterns of disease warrant further exploration to potentially better understand both conditions and how to treat them. (Some users may encounter a paywall.)

Risk factors linked with ASD include older parents, preterm births, and toxic prenatal exposures

Though researchers agree that there is a strong genetic component to ASD development, certain environmental factors heighten that risk, with studies suggesting older parents, premature birth, maternal obesity, and air pollution exposure in utero all elevate risks of ASD development. There is no connection between receiving vaccines and ASD development.

Even if you have some ASD-linked gene variations you may not develop ASD

Individual environment and life experiences affect how genes perform in the body, potentially adding methyl groups to DNA that affect their function and turning genes on and off—which may heighten or reduce disease risk.

Imagining how genetics works in 'Harry Potter' and how muggle-born Hermione is a witch

Dr. Robert Pyatt, director of Sanford Health’s medical genetics lab, talks through real-world genetics scenarios in the Harry Potter series, from the Weasley's red hair and freckles to why Hermione, a witch, could be born to "muggle"—or nonmagical—parents.

Many cancers arise from genetic mutations inherited from your parents

These mutations may happen in response to environmental or lifestyle factors, or may be passed down through family members. Genetic testing can be important in catching certain family cancers early and ensuring patients receive the right treatment for their disease.

Multiple genes are associated with Alzheimer's risk, but one particularly well-known disease-associated gene is apolipoprotein E (APOE), which typically encodes a protein that helps carry cholesterol and other fats in the bloodstream.

How uploading your consumer genetic testing could lead to a distant relative's arrest

This podcast includes a discussion about how law enforcement can compare DNA samples from a crime scene against voluntarily uploaded DNA on consumer genealogy databases to close cases. Investigators can and have cross-referenced a suspect's crime scene DNA with that of a suspect's relatives who happened to have chosen to upload their genetic information to an open-source genealogy database.

The Golden State killer case spotlights how genetic testing can affect your—and your relatives'—privacy

Police managed to use consumer DNA test results to close a case 32 years after a killer was believed to have committed at least 12 murders and 50 rapes. Their "smoking gun": They compared a DNA sample from the crime scene to genetic data relatives had shared on an open-source genealogy database. The suspect was caught after investigators explored family trees on this database and connected the dots from over 100 distant relatives who had some percentage of DNA that matched the killer. (Some users may encounter a paywall.)

The lack of diversity in DNA databases limits their applications

European ancestry dominates genetic research, hindering the usage of genetic databases for precision medicine for other groups, including African Americans, who face higher health risks due to genetic variants. Many Indigenous communities have also resisted genetic research due to past exploitation. (Some readers may experience a paywall.)

Scientists identify hundreds of genes responsible for OCD

Researchers analyzed the DNA of more than 53,000 people with OCD and identified 30 areas in the genome linked to the disease, containing 249 genes of interest. Of those, several were linked to other brain disorders, paving the way for genetic treatments of various mental illnesses.

Some data links schizophrenia to older paternal age and birth complications

Yet both associations are not yet considered firm enough to definitively be causative. Schizophrenia is a multi-causal syndrome and a mixture of factors, including genetics, are widely believed to be behind its development.

The first newborn screen for diseases was developed in 1961.

80% of schizophrenia cases may be inherited

Some research suggests that anywhere between 60% and 80% of people with schizophrenia had genes that predisposed them to the syndrome. That high rate has fueled interest in further exploration of what environmental and lifestyle factors cause some people with that genetic risk to develop the disease when others with the same genetic risks do not.

The history of the gene: an interactive timeline

Humans didn’t need modern technology to figure out that kids tend to look like their parents. But what did humans believe about genetics before we knew about DNA or cells in general? Explore this interactive timeline to see how philosophers and scientists throughout the ages tried to explain how traits are passed from generation to generation.