Maybe you just found out that you’re expecting (if so, congratulations!). Or, perhaps you have a family history of cancer—and now that you’re getting older, you want to know what your odds look like.
Whatever the reason, you’re thinking about paying a not-insignificant amount of money for an at-home genetic test. I mean, what could be simpler? You send in a quick saliva or blood sample and in a couple of weeks, you get the answers you’re looking for, right?
Well, you’re probably here because you realized it’s not anywhere near as simple. In other words, you have questions. A lot.
- What is an at-home genetic test and how does it work?
- Can you use it to improve your life?
- Is it worth the money?
- What’s the difference between a genetic counselor and a physician?
- What do professionals have to say?
- What are the pros and cons? Anything the average consumer might overlook?
- How can you choose between all the options?
In this quick reference guide, we’ll help you uncover answers to some of the most common questions so you can make a more empowered decision about genetic testing.
The Role of DNA & Genes
In order to fully understanding genetic testing, it’s important to start with a solid foundation. To do this, we need to get scientific for a moment—but don’t worry, we’ll make this as painless as possible.
What Is DNA?
DNA (formally known as deoxyribonucleic acid) is a molecule that contains all the biological instructions necessary to help us grow, live, and reproduce.
Despite its importance, DNA has a relatively simple structure. It’s shaped like a double helix and consists of a backbone made from sugar phosphate. In between the backbone sit four different nitrogen bases: adenine (A), thymine (T), guanine (G) and cytosine (C).
How Does DNA Relate to Genes?
These nitrogen bases connect with other bases to create base pairs; the order in which these pairs appear form segments of DNA called genes.
Each of us carries between 20,000 and 25,000 different genes, some of which may consist of only a few hundred bases, while others might have more than two million.
The double helix structure of DNA, with its adenine, thymine, guanine, and cytosine base pairs. Image credit: GeneEd
Tightly packed coils of DNA and genes are called chromosomes. Image credit: U.S. National Library of Medicine
When two people have a child, they each pass along half of their chromosomes to their offspring. And while the vast majority of the genes in these chromosomes are identical to their parents, a child’s DNA will contain about 60 errors (roughly one error for every 100 million letters of DNA).
It’s these errors that account for your personal differences in appearance and behavior, compared to your parents.
How Do Genetic Problems Occur?
The primary role of genes in the body is to make proteins, which are crucial to just about every aspect of human wellbeing; from body structure (collagen) and certain hormones (insulin), to digestion (trypsin) and skin pigmentation (melanin). Some proteins even control the function of other proteins.
In some instances, genes can become damaged, or mutated, to a point where they’re no longer able to function properly, which could have disastrous health effects. How? There are many different ways this can happen, including:
Dominant – Here, a parent has a 50% chance of passing their gene mutation on to their children. If both parents are carriers, it’s very likely that the child will ‘express’ this mutation, which could lead to things like Achondroplasia and Huntington disease.
Recessive – If one parent has a recessive gene, they have a 25% chance of passing it along to their children, and a 50% chance if both parents have the same recessive gene. Examples include cystic fibrosis and sickle cell anemia.
Chromosome Abnormalities – Here, whole sections of a chromosome can be lost, added, flipped upside down, or exchanged during pregnancy and then passed along to the child. Examples include Down’s syndrome and Edward’s syndrome.
Multifactoral – This involves a combination of environmental and genetic factors, along with traits passed from the mother, and is the most common cause of birth defects like cleft lip and congenital heart problems. This also accounts for other common diseases like heart disease and diabetes.
Whew! Did we ‘science’ you into exhaustion? Hopefully not, because now we’re getting to the fun part.
How Does Genetic Testing Work?
Summing up everything we just learned, a genetic test is one that can identify changes in chromosomes, genes, or proteins by studying short lengths of DNA, analyzing whole chromosomes, or studying protein amounts or activity levels.
There are many different genetic tests that use a variety of different sample types, including blood, hair, skin, saliva, cheek cells, amniotic fluid, and other tissues. Here, we’ll only focus on direct-to-consumer technology that commonly uses blood, cheek cells, or saliva.
Still, there are some meaningful differences. Dr. Annalise Swigert, a board-certified OB/GYN, helps us understand them:
Carrier Screening – During a carrier screen, blood is drawn from both parents to identify any of their genetic mutations. If both parents carry the mutation, whether dominant or recessive, it could cause an inherited disorder in their children.
According to Dr. Swigert, most patients choose to perform this test prior to pregnancy, although it can be performed at any time during.
Non-Invasive Prenatal Testing (NIPT) – We learned earlier that most DNA is contained inside cells, although some of the baby’s DNA—called cell-free fetal DNA- (cffDNA)—floats around freely in the mother’s blood.
Blood drawn from the mother can be tested for this cffDNA, and used to identify common chromosomal abnormalities in the fetus. NIPT can also help identify the baby’s gender.
Dr. Swigert claims NIPT is a very easy process for the patient and, as early as nine weeks, can “help you and your doctor discuss all the options for your pregnancy, including specialized care for you and your baby, both before and after delivery.”
Predictive & Presymptomatic Testing – These tests can help individuals make more informed decisions about future medical care by identifying mutations that might cause a disorder.
For example, if an individual had a family history of colon cancer, but wasn’t necessarily showing signs or symptoms, they could find out if they’re more likely to get colon cancer based on their genetic makeup.
From there, they could work with their physician and discuss possible preemptive medical care.
Online Genetic Testing – These tests run the gamut; everything from saliva and blood samples to screening for ancestry and inherited genetic disorders. If you’ve seen a commercial for a genetic testing service lately, it might fall into this category.
Pros and Cons of an At-Home Genetic Test
Like many other purchasing decisions we make, genetic testing can certainly provide valuable benefits, but it’s not perfect. Let’s discuss some potential pros and cons here, along with other important details.
Dr. Annalise Swigert tells us that one of the primary benefits related to genetic testing is that it can give patients the opportunity to understand their risks and consider their options.
The U.S. National Library of Medicine adds: “A negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options.”
In other words, if you’re looking for more information about your genetic makeup and how it might impact your or your unborn child’s health, these tests can certainly provide a lot of value. But are they accurate?
How Accurate Are These Tests?
Dr. Swigert impresses that no genetic test is comprehensive. They also won’t identify every form of the genetic disease and they can’t they screen for isolated birth defects.
Despite this, you’ll find that most direct-to-consumer genetic test options claim 99% or greater accuracy.
This is because all genetic testing laboratories are subject to the Clinical Laboratory Improvement Amendments (CLIA) regulatory standards, which cover how they’re performed, lab personnel qualifications, quality control, and testing procedures.
These standards also measure the analytical validity of genetic tests, which “refers to how well the test predicts the presence or absence of a particular gene or genetic change. In other words, can the test accurately detect whether a specific genetic variant is present or absent?”
Limitations of Genetic Tests
Despite this high level of accuracy, it’s important to keep in mind exactly what these tests are screening for.
The Federal Trade Commission tells us that genetic tests don’t involve a simple ‘yes’ or ‘no’ answer. As a result, one of the most important things to remember is that if yours returns a positive result, this does not mean you (or your child) have any condition.
Instead, it only means that you may have an increased risk of acquiring a specific condition.
Not All Genetic Tests Are Created Equal
Even then, Ellen Matloff, a certified genetic counselor and the President and CEO of My Gene Counsel, points out that, “Some of these tests are medically validated and others are simply genutainment – genetics entertainment.
“Most of the medically relevant genetics tests are intended for people who are at increased risk for a condition, based on personal and/or family history.”
Can Insurance Companies Use Your Genetic Information Against You?
A common fear (and rightfully so) among consumers is that the information gleaned from their genetic test can be used against them, whether by employers or health insurance providers.
Fortunately, the Genetic Information Nondiscrimination Act of 2008 (GINA) makes it illegal for health insurance providers to “use or require genetic information to make decisions about a person's insurance eligibility or coverage.”
GINA also makes it illegal for employers with more than 15 employees to “use a person's genetic information when making decisions about hiring, promotion, and several other terms of employment.”
Pro tip: Despite these protections, keep in mind that GINA won’t cover those in the military or who are receiving VA benefits, or from discrimination in other forms of insurance like life, disability, or long-term care.
Have You Mentally Prepared If Your Results Comes Back Positive?
If your test does come back positive, psychologist Nicole Martinez recommends pushing aside the panic and focusing on the positive:
“This means that you have identified a potential issue before there is any issue. It also allows you to get early (and more frequent) screening for the associated conditions. So, if you did develop them, you could catch them early and treat them accordingly.”
Kelly Kashmer of NothingPink, a non-profit organization focused on genetic testing awareness, education, and funding, notes that “you may not be emotionally prepared for the answer. You can’t un-know this information. And once you know you are positive, there are a lot of decisions to make.”
What kinds of decisions, exactly?
Working With Your Doctor & Genetic Counselors
Although many of these genetic testing services fall under the direct-to-consumer banner, you may have to get your doctor involved from the get-go, whether when drawing blood or ordering the test.
Even if this isn’t the case, it’s vitally important that you reach out and fold them into the process. Why?
While several companies offer easy-to-read reports along with their testing services, they often contain dense medical terminology that might be best interpreted by your doctor.
And even if the results seem crystal clear, your doctor can help you take the next step by formulating an actionable plan—whether this involves implementing treatment regimens, complementary screenings, or scheduling more frequent follow-up visits.
In this direct-to-consumer BRCATrue sample report, you can see that even a seemingly straightforward result can feature language that could be confusing. To help, get your doctor involved. Image credit: Pathway Genomics
How Is a Genetic Counselor Different Than Your Physician?
The National Society of Genetic Counselors defines their professionals as those “who have specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health.”
In order to qualify as certified, the American Board of Genetic Counselors (ABGC) require all members to obtain a master’s degree from an Accreditation Council for Genetic Counseling (ACGC)-approved program.
We’re told that coursework in these programs includes human genetics, birth defects, ethics, counseling techniques, and genetic tests.
For reference, we learned that Purdue University’s genetic counselor program includes coursework in genetics (molecular, population, and cytogenetics), teratogen counseling, disability studies, as well as counseling techniques.
As you can see, there’s nothing necessarily preventing a doctor from becoming a genetic counselor (and vice versa), although it might be considered relatively rare to find both.
In some instances, though, a genetic counselor’s training might make them better equipped to answer specific questions about your results.
According to Ellen Matloff, this includes “risks, benefits, and limitations of the testing, whether your insurance company will pay for it, how to increase your odds of coverage, and which test is right for you.”
She continues: “If the test comes back positive (or negative, which can be even more tricky to interpret), that genetic counselor will help you interpret the result and utilize it correctly for you and your family members.”
Despite their training, genetic counselors can’t recommend a specific course of action or treatment plan based on your results, which is why keeping your doctor involved is such an integral part of the overall process.
While genetic counselors play a clearly important role in these kinds of tests, the reality is that not all companies include their services.
If not, Ellen notes that “you can find a certified genetic counselor at NSGC.org under ‘Find a counselor.’ If there are none near you, several companies now offer phone counseling—and most accept insurance.”
Which direct-to-consumer genetic testing companies don’t provide access to genetic counselors? And will it make a big difference in price? Take a look at the chart in the next section to find out.
How Do At-Home Genetic Testing Companies Compare?
Here at HighYa, we’ve reviewed many different direct-to-consumer genetic testing companies, including 23andMe, Color Genomics, Counsyl, Harmony Prenatal, and Pathway Genomics.
There are also dozens more, although we’ll only cover some of the more popular options here.
How do they all compare?
|Company||Price||Screen For:||Source||Counseling Included||Alternate Services|
|23andMe||$199||35+ inherited conditions, 5+ wellness reports||Saliva||No||Ancestry; Wellness Reports: Alcohol Flush, Caffeine, Sleep, Lactose, Muscle Comp, Fat & Weight|
|Color Genomics||$249 (insurance isn’t billed)||30 for cancer||Saliva||Yes||No|
|Counsyl||$99-599 based on insurance coverage||100: chromosomal, genetic diseases, cancer||Blood||Yes||No|
|Pathway Genomics||$299-$2,999 (cancer)||ctDNA cancer (including hereditary), carrier screening||Blood||No||Medications, General Health & Wellness (skin, heart, and weight)|
|HerediT Universal / MaterniT 21 Plus||No cost listed, although insurance is billed||250+ carrier genetic disorders; Prenatal||Blood||Yes||No|
|Harmony Prenatal||$800-2,000||Trisomy 21, 18, and 13||Blood||No||No|
Given all these options, how can you choose the right one for you?
How Can You Choose the Right At-Home Genetic Testing Company?
To begin, The ABIM Foundation’s Choosing Wisely initiative recommends, “Sometimes a genetic test is not the best way to find an inherited condition or disease risk. A routine blood test or procedure might be just as good. And it might be less costly and more easily available.”
Similarly, Dr. Annalise Swigert reiterates: “Speak to your doctor to discuss the options that are best for you. If you want to see which inherited genetic disorders that both you and your partner carry, ask about carrier screening.”
On the other hand, “If you are pregnant, ask your doctor about NIPT. These tests can provide a great deal of information about the health of your unborn child.”
If you’ve already spoken with your doctor and determined that a genetic test is a good option, Dr. Mark Perloe of Georgia Reproductive Specialists suggests that, when considering different genetic testing companies, “they are all good. It usually comes down to insurance coverage and out of pocket expense.”
The International Society of Genetic Genealogy provides some fantastic additional tips that can help you decide:
- What happens with your data? What security measures are in place to keep it safe?
- Do you have to pay for a subscription in order to maintain access to features and services? In our experience, this is more common among the ‘genutainment’ services we discussed earlier.
- What level of customer support is provided? Are live agents available over the phone, or can you only contact them via email? What are their turnaround times?
Speaking of support, be sure to take a look at customer reviews for any genetic testing company you’re considering on consumer advocacy sites like HighYa.
Based on what we’ve discussed, you should have a solid idea of what steps you need to take next.
Just remember that, whether we’re discussing chromosomal disorders or increased risk of cancer, most genetic diseases are multifactorial.
That is, they’re caused by an unknown combination of genetics and environment, which is something that might not be detected by direct-to-consumer tests.