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What is DNA Analysis?
Updated on February 7, 2024
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DNA Testing
What is DNA Analysis?

DNA analysis is the process of examining the unique code that people have in the hereditary material passed down to them from their parents. Through it, people can learn more about their heritage and lineage and discover their origins.

DNA analysis has become one of the most powerful tools and methods for identifying people, their potential genetic matches, and even determining a person's risks for congenital disorders. It works by comparing and contrasting genetic codes between different parties to see where there may be overlaps or differences.

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Source: 123rf

How Does DNA Analysis Work?

In most cases, DNA analysis is done via DNA testing. Here are the steps:

  1. A biological sample is taken from you – This is usually blood, saliva, or even a buccal swab where a technician swabs your cheek for cellular material. With an at-home test, you carefully collect these yourself. This biological material should contain enough cells with plenty of DNA for technicians to analyze.
  2. A lab looks at your DNA and uses one (or many, if that's what you opted for) DNA testing methods – After you've handed over your sample, a lab tests it. Depending on the test, your genetic sequence will be broken down. If it's used for DNA identification of potential suspects or any other forensic evidence, the DNA pattern will be compared with any DNA found at the crime scene.
  3. The lab will list any findings and results or generate a report – You will then get a report of any findings from the analysis. A regular DNA test will detail your ancestry, potential matches, and health risks. When it comes to forensic science and collection of biological evidence, this will show if your DNA matches with any they're comparing to.

After you get your genetic testing results, several things can happen:

  • If it's being used for legal purposes, your DNA match may either incriminate you or exclude you as a suspect
  • If it's being used for legal identification, the DNA may match a victim's DNA or remains
  • If it's being used for health reasons, you may get better insight into your genetic makeup and health risks
  • If it's being used for proving paternity, the alleged father may be proven to be the biological father or otherwise
  • If it's being used for fun or to satisfy your curiosity, you may find some long-lost relatives, figure out your origins, and find out where your ancestors migrated from

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What is DNA Analysis Used For?

There are several uses for DNA Analysis, such as:

  • Use as evidence in the criminal justice system via forensic testing, often to prove the identities of potential suspects
  • Identifying family members, potential fathers (paternity tests), and even other relatives
  • Identifying human remains
  • Identifying victims of violent crimes who have no identifying documents on them (like a wallet, an ID, etc.)
  • Trying to match DNA samples from evidence, weapons, or locations of crimes1
  • Evaluating a person’s risk of genetic diseases
  • Prenatal testing to see if a baby will inherit any congenital disorders

These are the most widely-known uses of DNA analyses, but there are many more besides forensic applications. Some twins undergo twin DNA testing to prove whether they're identical twins. Other people use DNA testing services to find out more about their ancestors or determine if they have family members they don't know about for fun.

DNA analysis is also used in instances of sexual assault, with special kits called sexual assault evidence collection kits, which are used to potentially identify attackers via any biological evidence samples they may leave behind.

It's best to work with a genetic counselor or DNA experts for more serious cases, as they may deliver more accurate results.

Why Use DNA Analysis?

DNA analysis is considered to be extremely accurate, with an estimated rate of 95% accuracy in cases, so long as the chain of custody is not broken and the samples are handled and analyzed with care.2

With such a high accuracy rate, DNA analysis can be instrumental in proving innocence, finding perpetrators, or even identifying health risks early on.

Your DNA is so unique that finding a dead-on match is pretty tough. Having this elimination process is helpful in several fields.

However, it's not always right, and human error can come into play. With improper handling, poor transportation, or even lackluster storage of DNA samples, the accuracy of your results may suffer. DNA analysis must be done with care in order to get the most accurate results possible.

What is DNA?

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Source: 123rf

DNA is the hereditary material passed on by parents to their offspring. Think of it as your genetic fingerprint—it's totally unique to you. It holds the instructions for an organism's development, growth, and reproduction.

Physically, DNA is a long strand of genetic information stored in your cells to retain information on how you are uniquely made.

Nearly every cell in the human body has the same DNA. Most of the DNA is stored in a cell’s nucleus (nuclear DNA), but some are found in the mitochondria (mitochondrial DNA). Either way, they all contain important genetic information necessary for life. It also stores hereditary material and genes.

What Does DNA Do?

A person’s DNA code provides a great deal of identifying information about that person through DNA analysis. It contains the unique DNA sequence that contributes to who we are physically, how we grow and develop, and even other genetic traits.

Because DNA contains all this information, it has become a key factor in forensic science. No two people share the same DNA, so being able to match a sample to someone can help identify suspects, victims, or anyone else connected to a case.

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Source: 123rf

A DNA sample is used in law enforcement agencies as crime scene evidence. Forensic DNA analysis uses a DNA profile to identify criminals, exonerate the innocent, or identify missing persons. 

Not only that, but DNA can also tell you more about yourself and your health risks, as well as where your ancestors possibly originated. It's a great tool to use to uncover more about yourself, which is why DNA analysis is so popular.

It's not DNA itself that proves or disproves innocence or lets you know of your genetic risk—it's the analysis of it.

However, as with any technology, DNA analysis isn’t perfect. It presents special challenges when being used to identify someone.

What Types of DNA Testing Methods Are Used?

There are several genetic testing techniques used for different fields:3

  • Polymerase Chain Reaction (PCR) – PCR is often used for small DNA samples because geneticists make millions of copies of the DNA sequence available for other testing methods. It also focuses on specific genes, which can help identify genetic disorders.
  • DNA Sequencing – DNA sequencing looks at the order of nucleic acid bases in your DNA (adenine, thymine, guanine, and cytosine). Geneticists can find a match or determine if any genes have mutated depending on the sequence.
  • Cytogenetics – Cytogenetics focuses on examining a person's chromosomes and looks at their shape, number, and patterns. They can identify any extra chromosomes, missing ones, or mutated ones.
  • Microarrays – When it comes to microarrays, geneticists take a look at long sections of identical DNA to see if there are any discrepancies among them. Doing so can help identify mutations, deletions, or duplications. This is great for identifying genetic disorders.
  • Y-DNA – Y-DNA testing is reserved for biological males, as only they have the Y chromosome. It looks at paternal lines and uses Y-chromosome genetic markers for identification.
  • Mitochondrial DNA (mtDNA) – Mitochondrial DNA is DNA you inherit from your biological mother, as they are usually the ones you inherit your mitochondria from. This is a good option if there is no nuclear DNA left to test.

What’s the Difference Between DNA Sequencing and DNA Profiling?

DNA sequencing and DNA profiling are terms sometimes used interchangeably. However, they don’t mean the same thing even though there is a relation.

DNA profiling is a forensic technique. A DNA sample is evaluated and used to identify someone. On the other hand, DNA sequencing is a technique used in the biotech industry that determines the nucleic acid sequence of a particular DNA fragment.

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Source: 123rf

What Are the Different Types of DNA Available for Testing?

Here are the different types of DNA samples you can collect:

  • Sweat
  • Skin
  • Blood
  • Tissue
  • Hair
  • Dandruff
  • Mucus
  • Semen
  • Ear wax
  • Saliva
  • Vaginal or rectal cells

Investigators collect samples from various places, including directly from the subject, from items he or she has touched, or from a sample “left behind,” such as a hair that fell out.

Take note that some legal processes do not test certain samples or prefer some samples over others. Usually, this is because they have more DNA to analyze and are easier to handle.

Considerations When Evaluating DNA and DNA Analysis Test Results

When you run DNA analyses, you get a lot of information. Whether it's health information, knowledge about your ancestors, or even legally permissible DNA matches, it can be overwhelming.

However, consider that some of these results must be taken with a grain of salt. As we mentioned earlier, despite the 95% accuracy rate of most DNA analyses, broken chains of custody and errors can affect results.

Always consider the possibility of needing a second opinion, a repeat test, or even consulting a professional for further advice.

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Source: 123rf

DNA Tests for Health

When you receive your results for health-related concerns connected to your DNA, you may panic if anything is amiss. Again, remember that it may not be fully accurate, something may have happened to your sample, or the risk for disease is just that: a risk.

Getting a DNA test to look into potential congenital disorders is a good first step, but remember that there are genetic experts out there who can give you a better idea of what may be going on, probe further into these results, and have more conclusive answers for you.

Your test results are not the be-all and end-all of your health. Make sure you have them interpreted properly and seek medical counsel first before making any drastic changes to your lifestyle.

DNA Tests for Ancestry

Just like any DNA health result, make sure you don't take every result about your heritage and ancestry at face value. Many DNA testing services make educated, scientific guesses about origins based on the results already in their database, so consider how many other people have taken the test and what regions they're from.

Some DNA tests only have a small group of people from certain regions, making them less accurate than other testing services that may have more information. Many DNA testing companies also lack certain regions in general, so you may not be able to get the amount of detail you're looking for or that others have gotten.

Remember as well that regions, countries, and cultures are all constructed by humans and are not strictly rooted in science. So there is no European gene, just genetic markers that may match people who also came from Europe.

DNA Tests for Evidence or Forensics

With all the benefits that come with using DNA evidence, there are also pitfalls.

DNA isn’t perfect, though it’s closer to perfect than many other types of evidence. However, human error or bias corrupts the analysis of DNA evidence. This could link innocent people to crimes and point to “airtight” evidence as proof when it’s not completely reliable.

Privacy concerns also exist. Conducting familial searches exposes people not connected to criminal activity and pulls them into a situation. It might even expose family connections people didn’t know existed.

Finally, racial disparities exist when it comes to DNA analysis. Because more African American men have their DNA stored in state and federal databases, there is a higher risk of surveillance on minority communities.

Overall, there is a concern that DNA analysis could lead to the creation of a “genetic dragnet” and bring people with no direct link to crime into an investigation, exposing their privacy for no reason.

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Source: 123rf

Limitations of DNA Analysis

While DNA analysis is extremely powerful in different fields, there are limitations, such as:

  • Inconsistency with sample collection and storage
  • Broken chains of custody
  • Poor sample collection methods in some at-home tests or even lab tests
  • Mishandling of samples
  • Insufficient DNA presence in samples
  • Less developed regions have fewer resources, space, and manpower
  • Some areas don't have standardized methods or equipment

However, with the continued development of DNA technology, these limitations are slowly being overcome.

The Role of DNA Technology Today

Various types of modern biotechnology depend on DNA technology. Some of the most common ones include polymerase chain reaction, DNA sequencing and cloning, and gel electrophoresis.

Analyzing DNA has opened up a lot of doors for the improvement of technology. It has undoubtedly changed lives and revolutionized the way we do things.

Aside from forensic science and its applications in crime scene investigations, DNA technology is also used to develop therapeutic products such as vaccines, anti-cancer drugs, and growth hormones. Additionally, it plays an essential role in the manufacturing of genetically modified products.

Furthermore, DNA technology is an essential component in energy applications and diagnosis.

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Updated on February 7, 2024
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Updated on February 7, 2024
Dr. Dhingra
Dr. Harshi Dhingra
Medical Reviewer
Dr Harshi Dhingra is a licensed medical doctor with a specialization in Pathology. Dr. Dhingra has of over a decade in diagnostic, clinical, research and teaching work, including managing all sections of Pathology laboratory including histopathology, cytology, hematology and clinical Pathology.
Kelly Brown
Kelly Brown
Content Contributor
Kelly has experience working with clients in a variety of industries, including legal, medical, marketing, and travel. Her goal is to share important information that people can use to make decisions about their health and the health of their loved ones. From choosing the best treatment programs to improving dental and vision health to finding the best method for helping anyone who is struggling with health issues, she hopes to share what she learns through informative content.
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