Usually, genetic tests are ordered by doctors for specific reasons. For example, your doctor may order genetic testing when pregnant or trying to become pregnant. If you have a family history of certain diseases known to include a genetic component, your doctor may order genetic testing in case of symptoms of a disease. At-home DNA tests have changed how anybody has not the ability to bypass the doctor’s prescription and get their DNA tested quickly and affordably.
At-home DNA tests are part of the Direct To Consumer (DTC) trend to let users take more control over healthcare. Forgotten the need for a prescription from your doctor to conduct a genetic analysis or a paternity test.
With more than 100 companies offering numerous types of DNA tests, anybody can check their gene pool or even the one of your dog or cat for assessing rare mutations or to dig deeper into the family tree origins without having to spend days or even months in centennial birth certificates kept in city halls.
According to a market study conducted by ResearchAndMarkets, the DTC market is assumed to increase with a CGAR of 24% over the 2021-2026 period. Even though North America will remain the dominant market, the growth will be fueled by Asia Pacific demand.
The increasing need for paternity testing, the rising frequency of genetic illnesses, and the growing interest of consumers and clinicians in DTC kits are the primary reasons driving the expansion of this market.
Furthermore, the growing number of people eager to learn about their ancestors and the family tree will also serve as a driving force behind the development of DTC DNA test kits, particularly in developing countries.
This article will guide you through the At Home DNA revolution, how to use them, what you can expect from them, if they are clinically accurate and whether buying a DTC kit makes sense for knowing more about your ancestors and general health.
What are the DNA sample collection and testing processes?
Depending on the genetic information you are looking for, the DNA sample collection method may vary.
Most of the time, the collection process is the same. However, assuming that DNA is present in all the nuclei of any 30 trillion cells that compose the human body, the collection process mainly relies on the ease and cost-efficiency of collecting DNA in quantity compatible with the analyses.
The DNA testing findings obtained from extracting DNA-rich cells from swabs or blood samples are identical; the only difference is how the samples are processed in the two cases.
Cheek swabs or DNA collection from spit do not require a needle, a specialized setting is painless and inexpensive. The DNA obtained is suitable for endless periods after collection if it is handled appropriately. One of the issues raised to that buccal cells is not visible to ensure that enough material is collected.
Also, bacteria can degrade DNA-containing cells if they are not adequately dried and kept after harvesting.
Collecting DNA from a blood draw is less prone to contamination if the tubes are adequately stored and blood is visible. On the negative side, blood sampling is not a method if a person recently underwent a blood transfusion. It must be done in a more specialized setting by trained phlebotomists. Hence an increased cost.
As for collecting DNA from a urine sample, forget it. The amount of cells is not sufficient to provide enough DNA to analyze
What are the different types of DNA self-testing kits?
For most DTC DNA tests, the process is identical. Therefore, they may be linked to the technology used to analyze the DNA sample even though most companies rely on DNA arrays that include thousands of DNA markers. Nebula Genomics is one of the exceptions that offer whole-genome analysis.
The results will mainly differ due to the markers’ selection and the bioinformatics algorithms used to extract relevant information from the DNA mutations detected.
The process will involve four steps:
- Ordering online the At Home DNA test kit,
- Receiving the sampling, collecting cells, and sending back the sample to the laboratory for analysis
- Analysis of the DNA sample, bioinformatics stage, and upload to the company website
- Receiving an email that your results are online and checking them
Ancestry and Genealogy
The International Society of Genetic Genealogy (ISOGG) is the reference for better understanding that the ancestry and DNA genealogy companies have to offer.
They currently list more than 30 companies that offer Genetic Genealogy Tests and analyses. Therefore, it becomes exceedingly important to select a reliable provided and understand what type of results you will get with so many choices.
Ancestry DNA tests rely on the markers on the database and the quality of the bioinformatics algorithms being used. While the markers are often used to define ethnicity, the database may be used to find potential relationships between customers.
Hence the possibility to get in touch with a distant cousin and establish detailed family tree relationships. The first individuals to have their DNA fully sequenced were those who had been recruited for the Human Genome Project.
Celera Genomics made a test on all three billion bases of the human genome in 2003, which cost $10,000. Nowadays, the Nebula Genomics test comes for less than $1,000.
DNA is highly accurate in identifying close family members such as siblings or parents regarding ancestry. In addition, hundreds of tales have helped people reconcile with or identify long-lost close family relatives.
These tests will not tell you anything about your ancestors’ backgrounds if you are looking for further information. However, they claim to know where DNA similar to yours may be found on the planet today.
Inferring from this, we believe that a significant percentage of our extended family originated in those locations. However, showing the potential ethnic split carries no scientific significance in itself.
When you go back through time, we all have thousands of ancestors. As we progress through time, our family trees become tangled webs, implying that our ancestors will eventually become everyone’s ancestors.
DNA Paternity Testing is used to determine the biological father of a child. The test is done by comparing the child’s DNA and the alleged father.
The paternity test is usually done when there is a question about who the biological father of a child might be. For example, this can happen if there was no marriage between the mother and alleged father, if there was an affair, or if there are doubts about who fathered the child.
The paternity test can also confirm that a man is not biologically related to a child he believes he fathered.
Genetic Risk Factors and Health
DNA tests used to be only available to people who had a blood test conducted by a physician. They would alert the doctor of any possible genetic diseases.
Nowadays, Direct-to-Consumer DNA tests are available for private purchase and can tell someone about the health risks associated with specific diseases they might inherit from their family members.
Diet and Fitness
A DNA test is a powerful tool to help people figure out the best diet for their lifestyle. Numerous companies selected specific genetic markers that correlated with different food sensitivities, nutrient absorption, and obesity risk.
The firms that provide these services claim that they are backed by scientific evidence. But when you take a hard look at the data that supports these items, there is a definite odor of snake oil in the air.
It’s important to note that many people struggle to stay motivated when exercising. However, evidence suggests that genetic testing can drive people to engage in physical activity or engage in other healthy activities. According to Green, learning about one’s genetic makeup appears to make the benefits of living a healthy lifestyle “more tangible” to people.
The promises made by many of these testing firms are false, and there is no data to support the link between genetic markers and training outcomes. Nevertheless, if you have a lot of money to spend and are aware of the limitations of these exams, you may still find them fascinating, if not downright inspirational.
What should you consider when buying an at-home DNA test?
With so many companies offering DTC tests, it has never been as easy as to order genetic testing. However, there are somehow some key components that may ruin the experience.
Privacy: Your DNA is part of you and should stay this way
It’s critical to figure out who has access to your DNA information.
Some DNA testing companies will automatically share your anonymized data with other entities, such as researchers and pharmaceutical businesses.
Even though these data are used to help in the progress of science, some internet genetic testing organizations do not conform to some international standards governing data protection, personal information disclosure (including genetic information), and the use of genetic information.
You may think that your data are legally protected under the Health Insurance Portability and Accountability Act (HIPAA) covers the usage of medical information.
You will be wrong. HIPAA only applies to information handled by designated entities, such as physicians, hospitals, and insurance companies, and does not protect information handled by other institutions. This rule applies to genetic testing that is conducted by a healthcare professional.
Those that you acquire without a prescription by ordering online do not. Therefore, depending on the terms and conditions of a particular organization, your genetic information may be freely shared—with scientists, insurance companies, or anybody else who may be interested. Therefore, we strongly advise you to read the fine prints if you wish to know more about how at-genetic tests companies will handle your results and personal information.
Genetics risks are not made of 0 and 1
According to the Food and Drug Administration, over-the-counter genetic testing may give some vital information. However, they should not be used as a substitute for a complete examination by a healthcare provider.
Genetics is a science that will mainly express results in terms of probability. Do not expect definitive results. Science is continually evolving, and DTC tests should not be seen as clinical diagnostic tests that will analyze the genes of interest on different family members to define a precise diagnostic.
The tests currently available to the general public are not FDA approved for medical diagnosis. They will only provide the probabilities you may have to develop a specific disease depending on your genetic makeup.
Science is constantly evolving, and new genes are discovered monthly that will refine the risks of suffering from a disease. Therefore, always consider the results as being indicative and indicative only.
Some companies will refine their results according to the new progress of science. Especially for whole-genome sequencing tests, it makes a lot of sense. However, for tests based on DNA micro-arrays, the results will, unfortunately, go as far as the markers analyzed even though the probability main evolved slightly depending on the discoveries regarding the interactions between various markers.
A DTC DNA test is available will not be able to offer you an accurate diagnosis of a specific ailment. Instead, it has just one capability: it can provide you with an indicator of your genetic risk, but it cannot provide you with an exact picture of your total risk since it lacks precision.
What matters is that you obtain your DNA results, whether it is to determine if you have an elevated chance of acquiring cancer that was passed down to you or if it is to determine whether you have a half-sibling who you have never met.
When in doubt about if you need a DTC DNA test or how to interpret the results, it is advisable to consult with a genetic counselor. They are licensed healthcare specialists who can assist you in determining whether testing is appropriate for you and, if so, which tests will be the most beneficial. If you choose to have testing done, they can also assist you in interpreting the results, making decisions about following actions, and communicating with family members about what the results imply for them.
Quality of the tests and processing
Two main issues can affect the quality of the results provided by DTC companies. The first one relates to how the markers are selected and interpreted. The second is more technical and is linked to the companies’ quality standards and controls. For both, shortcomings can lead to unreliable results, which can have dramatic consequences.
Think of the home paternity test company that does not comply with acceptable quality standards…Even if an at-home DNA test is not considered a legal paternity test, assessing biological relationships comes with numerous implications, and reliability is critical for such a DNA testing service.
To ensure proper analysis, we recommend using a company with CLIA laboratories. Clinical Laboratory Improvement Amendments (CLIA) are a set of regulations established by the Centers for Medicare & Medicaid Services (CMS) to govern all laboratory testing done on humans in the United States.
The CLIA program’s primary goal is to ensure the highest laboratory testing quality. Although all clinical laboratories must be appropriately accredited to receive Medicare or Medicaid payments, the Clinical Laboratory Improvement Amendments Act (CLIA) has no direct duties for the Medicare or Medicaid programs.
How accurate are the genetic tests you can take at home?
Will it be for better understanding your distant ancestors, genetic makeup, and potential associated health risks? A DNA kit is only as good as the results’ accuracy.
According to prior studies, genetic testing using single nucleotide polymorphism (SNP) chips frequently provide false-positive results. The new study adds to this body of evidence. Previous research using repetitive medical-grade testing and sequencing technology discovered that 40% of results on SNP-based tests were not present in the patient.
As the study’s authors explain, because a single uncommon variant is extremely unlikely to be present, the vast majority of findings for that variant are true negatives. However, because SNP chips often assess hundreds of rare variants simultaneously and have a specificity below 100 percent, false positives are guaranteed to arise and overwhelm real positives among all rare variants tested on the chip.
However, genetic counselors should continue to be the first port of call for patients until these at-home tests become more accurate. Otherwise, erroneous results and the decisions that follow might result in far more harm than benefit for the individual.
To wrap up
In just ten years, at-home test kits changed the way people can decode their DNA and enter various universes, from genetic genealogy to paternity testing health and fitness tests.
Even if all companies have not been created equal, and it is critical to ensure proper analysis and privacy handling, the results obtained may open unsuspected doors.
Somehow, numerous controversies arise about the validity of the results that must always be considered informative and not definitive.