The first newborn screen for diseases was developed in 1961.

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.)

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

Alkaptonuria was the first identified genetic disorder

In 1902, a rare recessive mutation was determined to cause alkaptonuria—a disease that induces dark pigmentation of connective tissue. The responsible gene was not isolated until the 1990s.

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.

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.

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.

Carrier screening enables individuals without symptoms to see if they carry a gene for disease

Some conditions are autosomal recessive—meaning a person may carry a gene for that condition, but not have symptoms. Cystic fibrosis, sickle cell disease, and Tay-Sachs disease are examples of autosomal recessive diseases in which a person must inherit two copies of a nonfunctioning gene—one from each parent—to develop disease.

The ancient Egyptians developed the first pregnancy test—and scientists tested it in the 1960s and discovered it was accurate about 70% of the time.

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.

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.

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.

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.

Read the 1963 study testing out an ancient Egyptian pregnancy urine test.

See this list of FDA-approved gene therapies, including offerings for inherited conditions as well as some forms of cancer.

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.

A 1974 Science News article proclaimed that within a decade, light therapy would be on par with traditional drugs.

A single-gene mutation in the FOXC2 gene gave actress Elizabeth Taylor two rows of eyelashes.

Jaundice, which can make the skin and eyes appear yellow, is a buildup of bilirubin, a waste product that forms when old red blood cells break down.

The first successful IVF pregnancy was in the United Kingdom in 1978

Gynecologist Patrick Steptoe and his collaborator Robert Edwards, a biologist, attempted to fertilize a human egg cell in a petri dish 101 times before finally succeeding. This resulted in the birth of Louise Brown—at the time referred to as a "test tube" baby—in 1978, who was born into the spotlight.

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.

Exposing fetuses to certain flavors in the womb could lead to children being less picky eaters

A new study found that 3-year-olds were less averse to the smell of vegetables they had been repeatedly exposed to in utero, suggesting that what mothers eat in late pregnancy can leave a lasting imprint on their children's tastes.

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.)

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.

Light therapy was widely used as a medical treatment for various maladies in the early 1900s before it was replaced by antibiotics.

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.

See the first dog ever treated with insulin—a peptide

Frederick Banting and his graduate student Charles Best were the first to isolate the peptide insulin from dogs. They induced diabetes in the animals and then treated them with this peptide.

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.

A first-of-its-kind clinical trial taps livers from gene-edited pigs to clean blood

The experimental dialysis-like treatment from United Therapeutics, eGenesis, and OrganOx, is designed to help people with liver failure. The therapy, which involves attaching the modified pig liver externally, filters a patient’s blood so their own livers can temporarily rest and perhaps heal.

See photos of ultraviolet light therapy, widely administered in the early 1900s, particularly among children with skin diseases, tuberculosis, rickets, and more.

Peptides like GLP-1 account for 31 of 370 new drugs approved by the US FDA between 2016 and 2023.

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.

See a timeline of landmark discoveries in the field of genetics to gain a better understanding of more than a century of advances.

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.

The pharmaceutical industry evolved, in part, from the discovery of synthetic dyes

In 1856, a chemist accidentally discovered mauveine, the world's first synthetic dye, while trying to make quinine to treat malaria. The synthetic dyes that followed helped reveal germs under microscopes, paving the way for modern imaging techniques and breakthrough treatments, such as antibiotics.

Peptide research dates back to the late 1800s

Peptide science dates back to the late 1800s with some early peptide synthesis work, but peptides took off in the medical sphere after surgeon Frederick Banting and his colleague's isolation of insulin from dog pancreases in 1921.

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.

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.

Listen to how the 1902 'poison squad' experiments changed food safety in America

As part of government research, a group of young men were paid to eat standard American food—replete with food additives like borax and formaldehyde—which revealed the dangers of unregulated food. The work was led by the first FDA commissioner, Harvey Wiley, who helped end the "century of the great stomachache."

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 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.

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.

Usher Syndrome, a rare genetic disorder, causes progressive hearing and vision loss, and people with the condition sometimes eventually become deaf and blind.

Watch how Sanger sequencing kickstarted the first generation of DNA sequencing

Sanger sequencing is a foundational DNA sequencing technology developed in 1977. The Nobel Prize-winning discovery uses fluorescent dyes at the end of DNA chains, which are sorted by length through electrophoresis, to determine the order of nucleotide bases.

Around 5 million of our 3 billion DNA letters differ between individuals

Genetic testing examines gene variants to help explain disease symptoms. It explores how genetic differences between individuals can be used to understand risks of developing diseases like Huntington's Disease or passing variants linked to disease onto offspring.

Common genetic disorders

As research continues, it's clear that disease and genetics go hand in hand. Here's a selection of 50 National Human Genome Research Institute (NHGRI) articles providing basic information on genetic, orphan, and rare diseases caused by mutations in DNA sequences, whether inherited from parents or brought about by outside factors.

Scientists may have discovered why gene-edited pig kidneys are rejected in humans

In November 2025, researchers studying how a brain-dead donor’s body responded to the transplantation of a genetically engineered pig kidney, published that they’ve identified immune system reactions that may explain why these pig organs get rejected. What’s more, they were able to reverse the rejections with an already available drug combination and the kidney functioned well. They also pinpointed a way to detect a potential rejection up to five days sooner.

Zika virus shocked scientists because the mosquito-borne disease causes birth defects

This revelation, confirmed in 2016, marked the first time that a mosquito-borne disease was known to cause birth defects. Fetuses exposed to the Zika virus during pregnancy sometimes suffer from neurological complications and microcephaly, a small-headed condition associated with neurological development issues and impairment.

The first identification of Alzheimer's was made in 1906.

The birth of the multivitamin

In 1912, biochemist Kazimierz Funk, often anglicized as Casimir Funk, proposed that there existed an essential nutrient in food that could prevent deficiency diseases, such as scurvy or rickets. This article explores the origin of the multivitamin, an invention that has garnished...

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.)