DNA testing spans family-history research, medical screening, forensic investigation, and whole-genome sequencing. U.S. survey data show that awareness and use have both grown, while national registries and forensic databases illustrate the scale of available testing and DNA records. The figures below keep their original measurement periods and distinguish current estimates from older summaries.
Contents
- Awareness and reported use
- Availability and scope of testing
- Consumer and ancestry testing
- Forensic DNA and CODIS
- Newborn and inherited-condition screening
- Accuracy and laboratory quality
- Sequencing scale, variation, and cost
Awareness and reported use
The National Cancer Institute’s 2017 HINTS 5 Cycle 1 survey found that 57% of U.S. adults had heard of or read about genetic tests for health reasons. Among people who were aware of genetic testing, 83% had heard of tests for personal disease risk, and 81% had heard of tests for inherited disease risk in children. Awareness was lower for applications tied to treatment: 41% had heard of testing to determine drug efficacy, while 38% had heard of testing to guide treatment decisions. These are awareness measures from 2017, not estimates of current public knowledge. (HINTS Briefs Number 23: Prevalence and Predictors of Genetic Testing Awareness)
Reported use was more limited in the same analysis. Among U.S. adults who reported genetic-testing awareness, 21% reported genetic testing in general. Five percent reported BRCA testing for hereditary breast and ovarian cancer, and 3% reported Lynch syndrome testing for hereditary colorectal cancer. Because these percentages use the aware group described in the HINTS analysis, they should not be read as a percentage of every U.S. adult without that context. (HINTS Briefs Number 23: Prevalence and Predictors of Genetic Testing Awareness)
Availability and scope of testing
The NIH Genetic Testing Registry recorded a large testing ecosystem on September 30, 2026: 64,051 tests, 29,414 conditions, 18,774 genes, and 350 laboratories. The registry counts describe listed tests, conditions, genes, and laboratories; they do not mean that every test is appropriate for every person or that all listed options have the same evidence base. (Home - NIH Genetic Testing Registry (GTR))
The FDA describes direct-to-consumer genetic testing as potentially involving 10,000 or more variants. Evidence about the relationship between those variants and disease risk can differ, so a large variant count is not by itself a measure of clinical usefulness. The FDA’s carrier-screening definition also gives a familiar inheritance benchmark: when both parents carry a relevant recessive variant, the child has a 25% chance of developing the condition. (Direct-to-Consumer Tests)
Regulatory authorizations provide narrower examples. In 2018, the FDA authorized a direct-to-consumer pharmacogenetic test detecting 33 variants across multiple genes. Separately, FDA real-world-evidence documentation says the 23andMe genetic-health-risk authorization covered 10 health conditions or diseases in its 2017 authorization. These authorization-specific counts should not be generalized to every consumer test. (FDA authorizes first direct-to-consumer test for detecting genetic variants that may be associated with medication metabolism, CDRH Premarket Authorizations that Used Real-World Evidence)
Consumer and ancestry testing
Nationally representative HINTS 6 data from 2022 found that 81.4% of respondents were aware of genetic testing and 40.0% had undergone genetic testing. The study also shows how access was distributed across testing types: genetic counselors ordered only 10% of reported genetic tests, while other health-care providers ordered 80% of carrier tests and 65% of specific-disease tests. The ordering figures describe the HINTS 6 analysis, not all U.S. testing activity. (Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States)
Family history was a prominent motivation. Understanding family history was reported as a reason for ancestry testing by 72.2% of relevant HINTS 6 respondents. The same motivation was reported for personal-trait testing by 64.9% of relevant respondents. For disease-risk or carrier testing, carrier testing was reported as a reason by 76% of relevant respondents. These percentages belong to the relevant respondent groups and do not describe one common denominator across all three testing categories. (Awareness, use, motivations and methods of accessing genetic testing in 2022 in the United States)
| HINTS 6 measure | Share | Period |
|---|---|---|
| Aware of genetic testing | 81.4% | 2022 |
| Had undergone genetic testing | 40.0% | 2022 |
| Family history as an ancestry-testing reason | 72.2% | 2022 |
| Family history as a personal-trait-testing reason | 64.9% | 2022 |
| Carrier testing as a disease-risk or carrier-testing reason | 76% | 2022 |
Forensic DNA and CODIS
The FBI reported that the National DNA Index contained 20,317,558 offender profiles, 6,448,070 arrestee profiles, and 1,487,942 forensic profiles in June 2026. In the same period, CODIS had produced 808,813 hits, and those hits had assisted more than 784,252 investigations. A profile count is a database measure; it is distinct from the number of investigations assisted or the number of hits. (CODIS-NDIS Statistics - LE)
NIJ project data show why forensic DNA results do not arise from every submitted kit or biological sample. Across sexual-assault-kit projects through 2017, 38% of more than 7,000 kits submitted for DNA testing produced profiles eligible for CODIS upload. NIJ performance metrics for its Solving Cold Cases with DNA program found that about 48% of cold-case investigations with tested biological evidence yielded any DNA profile. In one South Dakota project, 254 DNA profiles came from 504 kits tested. (Sexual Assault Cases: Exploring the Importance of Non-DNA Forensic Evidence)
Newborn and inherited-condition screening
The CDC’s December 2024 newborn-screening framework says nearly 4 million babies are born in the United States each year and are covered by newborn screening programs. Approximately 14,000 U.S. newborns each year are diagnosed with detectable and treatable conditions through newborn screening. Screening typically occurs 24 to 48 hours after birth, and dried-blood-spot results are usually available within 5 to 7 days after birth. (Newborn Screening December 2024)
An older CDC summary, covering 2011 information, reported that more than 98% of approximately 4 million U.S. newborns were screened each year. About 12,500 of the 4 million infants screened annually were diagnosed with one of 29 core uniform-panel conditions in that summary. It also estimated congenital hypothyroidism at 1 in 2,000 U.S. newborns and reported congenital hearing loss in 1 to 3 newborns per 1,000 live births. These figures retain the summary’s 2011 scope and should not be treated as a current prevalence update. (CDC Grand Rounds: Newborn Screening and Improved Outcomes)
Accuracy and laboratory quality
The CDC’s laboratory-practice review reported that New York-approved laboratories performing molecular genetic testing increased 36%, from 25 in February 2002 to 34 in October 2008. Cited market analyses reported a 15% increase in worldwide molecular genetic testing from 2006 to 2007. These are historical measures and are not independent verification of present-day laboratory capacity. (Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions)
The same CDC review described several quality measures. One cited evaluation found that 17% of adenomatous-polyposis-coli testing cases lacked valid indications for testing. In approximately 92,000 DNA-based genetic tests evaluated, errors involving specimen handling and other analytic steps ranged from 0.06% to 0.12%. CAP molecular-genetic survey data estimated a 1.5% overall error rate for cystic-fibrosis mutation analysis during 1995–2000, with approximately 50% of those errors occurring during analytic or postanalytic phases.
CLIA requires laboratories performing molecular genetic tests to verify test accuracy at least two times annually, according to the CDC guidance. For sequence-quality terminology, NHGRI defines Phred20, or Q20, used for high-quality Sanger sequence data, as an error probability of 1%. (Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions, DNA Sequencing Costs: Data)
Sequencing scale, variation, and cost
NHGRI states that sequencing a human genome usually costs less than $1,000 in its current estimate accessed September 30, 2026. The institute also states that current human-genome sequencing is more than 1 million-fold less expensive than it was a couple of decades ago. These are estimates describing sequencing cost, not the total price of every clinical or consumer testing service. (Human Genomic Variation)
The biological scale is substantial. A human genome contains approximately 6 billion nucleotides when both chromosome copies are considered. Relative to the reference, a typical human genome differs by approximately 5 million single-nucleotide variants, approximately 600,000 insertion/deletion variants, and approximately 25,000 structural variants. These are approximate variation estimates, so they should not be interpreted as a complete count of every possible difference between two people.
NHGRI’s sequencing-cost methodology used different coverage assumptions for platform comparisons: 6-fold sequence coverage for Sanger-based sequencing and 30-fold coverage for Illumina and SOLiD sequencing when estimating cost per human-sized genome. Coverage is a sequencing-method measure and helps explain why cost figures need their methodology and platform context. (Human Genomic Variation, DNA Sequencing Costs: Data)