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

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.)

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

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.

The first newborn screen for diseases was developed in 1961.

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.

Like counting how often a word is repeated in a sentence, forensic scientists can identify people by tallying how often short segments of genetic information repeat in specific parts of a person's DNA—a set of numbers that varies from person to person.

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.

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

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.

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.

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.

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.

Ancestry testing matches DNA to known genetic variants found in specific ancestries

After a lab receives a person's sample, the DNA is separated into single strands, which are chemically cut into smaller fragments. The fragments are then fed into an array of variants of known origins, and technicians observe if a person's fragments bind to specific variants.

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.

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.

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.

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.

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.

See the history of DNA sequencing

DNA sequencing evolved from manual methods to automated, high-throughput technologies. The Human Genome Project was possible in the first generation of gene sequencing technology with the "chain termination method," which won developer Fredrick Sanger a Nobel Prize.

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.

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.

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.

Tetrachromacy allows humans to observe 10 times the normal amount of colors

Resulting from a mutation on the X chromosome, the rare genetic condition causes individuals to possess an additional type of photoreceptor cell, typically sensitive to the orange range, located between the standard red and green cones. This enables the perception of approximately 100 million colors.

Think we decoded the genome in 2000? Nope. It was 2022.

Two decades after the draft sequence of the human genome was unveiled to great fanfare, a team of 99 scientists has finally deciphered the entire thing. They have filled in vast gaps and corrected a long list of errors in previous versions, giving us a new view of our DNA.

Explore the original goals of the Human Genome Project

The project goals emphasized DNA sequencing technologies and methods, which would lead to future treatments of genetic disorders. Exploring the project data's ethical and social implications was also considered.

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.)

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.

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.

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.

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.

Gene therapy treats a disease by editing the disease's underlying DNA, replacing it with a functional variant.

Tumor genetic profiling can lead to targeted treatments

Genetic profiling of tumors—based on a sample from the tumor, a patient's blood, or both—can help clinicians determine if targeted therapies known to block the growth of certain types of tumors would be appropriate for specific patients.

Explore the differences between healthy and cancerous cells using a DNA microarray

In this simulation, you will learn how scientists use microarrays to experiment on thousands of genes at the same time. By determining which genes are on or off, users can identify those that contribute to cancer formation.

Half of human DNA is inherited from each parent

Within most cells reside 23 pairs of chromosomes made of tightly wound DNA, and half of each pair is inherited from each parent. The 23rd pair consists of two X-shaped chromosomes, or one such chromosome paired with a Y chromosome, and determines biological sex.

Glowing chemicals allow scientists to read DNA like a barcode

The process of determining the order of nitrogenous bases in DNA involves first cutting the DNA into fragments, which are duplicated multiple times using bacteria. Fluorescently labeled terminator bases are added to fragments, which are sorted by length and read via laser to reconstruct the sequence.

60 years after seeing Henrietta Lacks as a patient, her doctor still remembered the unique cervical tumor that gave rise to the 'immortal' cell line now commonly used in biomedical research—it was purple, shiny, and soft—an appearance he said is very different from a typical tumor.

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.

In 2025, researchers in the UK began working on developing artificial DNA

The Synthetic Human Genome Project aims to one day construct human DNA, molecule by molecule, in the hopes of creating disease-resistant cells and synthetic chromosomes for study. However, critics warn it may be misused to create enhanced or modified humans.

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.

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.)

Fruit fly experiments helped identify genes responsible for major body development

The insects' fast life cycle and affordability have allowed geneticists to quickly identify which genes are responsible for limbs, eyes, and other body structures by inducing mutations. The same genes may be responsible for different parts of a species' body, such as limb-building genes being responsible for wing pigmentation in butterflies.

The Human Genome Project spawned numerous spinoff genetics projects

The Human Genome Project led to the development of techniques later applied to projects in microbial and plant biology, epigenomics, environmental and cancer genomes, and more. In the spirit of the HGP, data from these projects has been made freely available to develop new technologies.

Where do genes come from?

There are many more genes on Earth today than when microbial life first spawned on the planet about four billion years ago. Many of these newer genes grew from genetic mutations, misprints that slowly drift from the original blueprint via cellular division. If these mutations drift far enough, they can establish a new family of genes, though this process can take well over a million years.

Fully sequenced human genome will help scientists better understand disease

April marks the 20-year anniversary of the completion of the Human Genome Project, a monumental achievement that provided the first map of the human genetic code and advanced our understanding of human biology, disease, and potential treatments....

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.

Twin studies suggest celiac disease is among the more genetically-linked disorders

Genetics appear to play a larger part in this condition's development than many other autoimmune disorders. Research shows a roughly 60-75% genetic probability that if one identical twin has it, the other will too. Celiac triggers a small intestine attack when people eat gluten, a protein commonly found in wheat, barley, and rye.

3-parent baby approach may help women with infertility

Though the topline promise of this approach is avoiding passing on mitochondrial diseases, some researchers and companies have been eyeing its potential for helping with female infertility, since faculty mitochondria may contribute to the condition. Recent research suggests this approach could be promising.

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.