Aurea is the first US baby born following polygenic analysis

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

Rafal Smigrodzki, a neurologist with a PhD in genetics, first heard of the polygenic risk score offering after reading about it in a 2017 MIT Technology Review feature that focused on the company they eventually used, Genomic Prediction.

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.

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.

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.

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.

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.

Australia legalized 3-parent IVF in 2022

It was the second country, after the UK, to legalize the procedure, which is still prohibited in the US. There are more than 300 rare mitochondrial diseases that can be passed from a mother to her offspring.

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 first newborn screen for diseases was developed in 1961.

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?

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.

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.

3-parent baby technique fuels worries of future 'designer babies'

Some critics of this approach worry that any genetic manipulation will both culturally and technologically normalize the idea of "designer babies"—embryos that are manipulated or selected based on physiological characteristics including height, eye color, athletic ability, and intelligence.

Eight British children have been born via mitochondrial replacement therapy

In July 2025, a decade after British lawmakers signed off on allowing three-parent IVF, scientists announced that eight healthy babies had already been born using this approach. The news was included in a pair of research articles published in a peer-reviewed journal that noted the oldest kids were already more than two years old, and that they were hitting developmental milestones as expected. (Some users may encounter a paywall.)

Pregnancy at older ages increases the chances of fetal abnormalities

Chromosomal irregularities are more likely at older maternal ages so genetic testing for a fetus of mothers-to-be at age 35 and older is often recommended. Conditions that can be screened for in utero include cystic fibrosis, Tay-Sachs disease, sickle cell disease, Down syndrome, spina bifida, Duchenne muscular dystrophy, and more.

In the US, 3.6 million babies were born in 2023

That year, about 40% of the babies were born to unmarried parents, and about 32% of the births were born via cesarean. On average, mothers were 27.5 years old when they had their first child.

Four frozen embryos in the US were created via 3-parent IVF technique

Columbia University researchers created four embryos using mitochondrial replacement therapy for four female patients who didn't want to pass on mitochondrial diseases to their children. Yet US law restricts the researchers from implanting the embryos so they remain frozen. (Some users may encounter a paywall.)

The first child born via mitochondrial replacement therapy was born in 2016

The healthy baby boy's mother carried genes for a rare mitochondrial disease called Leigh syndrome and after multiple miscarriages the family opted to try the controversial procedure. It was conducted by a US doctor in Mexico. The procedure is prohibited in the United States.

A planned clinical trial to treat a rare lysosomal storage disorder in utero has buoyed hopes of providing prenatal gene therapies, but it was still awaiting FDA approval to begin enrolling patients as of May 2026.

The US FDA recently tried to regulate the expanded prenatal genetic tests

The agency proposed a new rule in 2023 to make it explicit that these types of tests are devices under existing law and clarify that that the agency could move to regulate them. They finalized a regulatory change in 2024 that added the words "including when the manufacturer of these products is a laboratory" to an existing law, but a federal district court vacated that edit in March 2025—returning the law to as it was before.

About 250,000 patients accessed assisted reproductive technologies in 2022

In 2022, 251,542 patients tried assisted reproductive technologies—most commonly IVF—resulting in more than 98,000 infants. Those children represent around 2.6% of the babies born in the US.

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

Genetic engineering will change everything forever

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. As scientists increasingly understand how specific genes cause disease, the possibility of engineering our genes to not only "fix" problems but enhance our natural ability grows.

Medical experts warn that completing genetic testing for Alzheimer's can be fraught, in part because there's a shortage of genetic counselors to help navigate the findings and their potential implications.

Triplet birth numbers are dropping—and that may be a good thing

Pregnancies involving three kids or more have dropped 62% from 1998 to 2023, a trend that the Centers for Disease Control and Prevention links to fewer embryo transfers during assisted reproduction procedures—a transition prompted by more refined techniques and technical advances. Though multiple births can occur naturally, often pregnancies involving multiple births have been the result of efforts to ensure pregnancy success by transferring multiple embryos.

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.)

Couple welcomes rare quadruplet daughters who are actually a set of twins

The four healthy girls were delivered by cesarean section and joined a larger family that includes their parents and a 2-year-old older brother. Without the use of fertility drugs, quadruplet births are rare, but the chances are even slimmer that they'll be sets of identical twins. Medical professionals say the odds are around one in a million.

1 in 31 kids in the US has autism

That figure comes from an analysis published by the US Centers for Disease Control and Prevention based on data gathered on eight-year-olds in 2022. Its figures mark a significant increase from 2000, when the estimated autism figure was one in 150, but improvements in diagnosis and changes to the disease criteria that broadened the diagnostic criteria are widely believed to be driving that increase.

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.

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.

‘Hope for Healing’: The first-ever use of an in utero stem cell treatment

In 2023, researchers at UC Davis performed the first-ever fetal stem cell transplant, attempting to cure a case of spinal bifida prior to childbirth using stem cells derived from the placenta. The trial, and others including an effort to treat muscular dystrophy, highlight the potential power of stem cell therapy.

The ultrarare 'Er' blood type has been documented only about 40 times, and it can cause devastating pregnancy complications.

Meet Maddie, the 2023 Gerber Baby

The Gerber Spokesbaby Contest has chosen a new representative company baby since 2011, regularly picking a baby to reflect the company's embrace of its customers' diversity. In 2023, Gerber chose Maddie Mendoza, the daughter of Filipino-descended US...

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.

The first CRISPR-approved treatment was for sickle cell anemia in 2023

Victoria Gray was the first patient to receive a CRISPR-based therapy, which eliminated her symptoms and restored her health. The therapy's initial cost of $2.2M has kept it out of reach of many patients.

Gene therapy for a rare type of deafness is allowing deaf children and adults to hear for the first time, according to research results reported in April 2026.

In 2026, the FDA proposed a novel approach to expedite reviews of gene therapies for patients with rare genetic disorders such as cystic fibrosis, potentially bypassing the need for years-long clinical trials if approved.

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.

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.

One dad, one hundred babies

A look at the companies offering surrogacy to the ultrarich—including Chinese men taking their reproductive cues from Elon Musk.

The term 'nepo baby' became popular in 2022, thanks in large part to social media.

How to consider the ethics of 3-parent IVF, which is illegal in the US

Ethical concerns with this controversial procedure include that a little bit of a child's offspring would be from a third person and that the decisions made with this pregnancy will affect numerous generations, making a permanent change to the gene pool.

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.

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.)

See how a novel gene editing technique called base editing can create changes in a single DNA base, using a more precise targeting approach than CRISPR-Cas9.

Girls are hitting puberty earlier than ever before

Around the world, there has been a spike in children—especially girls—experiencing early puberty and doctors are seeking to understand why. The rise has been particularly strong post-2020. Early-maturing girls are at a higher risk for developing...

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.

In 2023, the FDA approved gene therapy for sickle cell disease, enabling one-time infusion bespoke treatments that use a patient's own stem cells to effectively cure a painful condition that disproportionately affects people of African American descent.

Connecticut recently became the first state to create and launch a baby bond program, a government-funded savings or investment account that is seeded when a child is born.

A new AI-assisted reproductive technique is finding 'hidden' sperm cells for those with very low sperm counts

Known as the Star system—for Sperm Track and Recovery—it uses artificial intelligence to help identify and locate "hidden" sperm in men with a rare infertility condition called azoospermia. The condition affects about 1% of men, and these individuals have sperm counts low enough that the individual spermatozoa in their ejaculate may be undetectable. In late 2025, the first baby was born after the child's parents used this assistive technique to locate sperm.