Is Human Genome Sequencing 'The Future of Health Care'?

Have you ever wanted to understand everything that makes you, "you?" Now you can… sort of.

Genetic testing has become increasingly popular over the past decade. A growing number of health tech companies offer test kits for finding relatives, (Ancestry.com), identifying food sensitivities (Everlywell), tracking fertility (Modern Fertility) or identifying potential health concerns (23andMe). These companies can tell you all this information using DNA microarrays, which only test about one million specific sites in your genome.

The simplicity of the direct-to-consumer testing process is key, offering convenience and affordability — at least compared to expensive lab tests ordered by a doctor. Direct-to-consumer kits can be ordered online, shipped to your home and mailed back after pricking your own finger for a blood sample or swabbing your cheek for buccal cells.

Too good to be true? Maybe. Here’s what you should know about your genes and what they say.

What is genetic testing and genome sequencing?

Our genes — and their interaction with our environment — make us who we are. While we share more than 99.9% of our DNA, we each have a unique combination of genetic information inherited through our ancestry. By analyzing our DNA, we can connect the sequences within us to insights and associations, such as traits, food allergies and disease risk.

Pros of direct-to-consumer genome sequencing

Stay informed about potential health risks

Genetic testing can offer a wealth of personalized information regarding potential illnesses, conditions or even simple preferences such as whether you favor your right or left hand.

If you’re thinking about starting a family, you and your partner may want to talk to a genetic counselor about sequencing your genomes or your exomes — the portion of your DNA that codes for proteins, comprising roughly 2% of your total genome, but 100 times more than a typical microarray.

Whether you choose to conceive naturally or pursue in-vitro fertilization, it’s helpful to pre-screen for genetic incompatibilities that could result in miscarriage, severe health issues or death.

Learn about your heritage

Finding potential relatives or building out your family tree is a popular application for direct-to-consumer genetic testing. People can opt to share their information on certain databases and be notified of any relatives.

Based on various genetic markers linked to populations from certain regions of the world, thousands of people have been able to learn about where their ancestors came from or find family members they never knew.

Ancestry.com, a genealogy company founded in 1996, claims to have more than 30 billion personal records on file as of 2022, including a genetic component called AncestryDNA. Combining this data with information such as World War II draft cards, marriage and obituary notices and school registration has helped people establish their family lineage through surnames, travel records and other historic details.

Identify fun facts about yourself

The human body is wild and wonderful. Did you know that some people are genetically programmed to exude little to no body odor? Other genetic traits include freckles, dry ear wax, dimples, the ability to roll your tongue into a "U" shape, attached earlobes, curly hair, a strong distaste for cilantro, and hundreds more.

If nothing else, genetic testing can unlock your understanding of yourself in a whole new way. Of course, having so much access to your inner workings also comes with huge risks and considerations, which we’ll discuss below.

Cons of direct-to-consumer genome sequencing

Genetic sequencing doesn’t tell the full story

Direct-to-consumer tests only offer a slice of insight into your health and well-being. Environment plays a major role in our health as well; often, it takes a combination of genetic risk and a specific environment to lead to disease. Your genes do not define your future, even if your sequencing report comes back with some sobering information. They simply provide a partial preview of predisposition and risk so you can plan and prepare accordingly.

For example, you may have heard of the BRCA gene. People who inherit harmful mutations on breast cancer susceptibility genes BRCA1 and BRCA2 are more likely to develop breast cancer or ovarian cancer. But some of those with a BRCA mutation will never develop cancer, while others who don’t carry any BRCA mutations can also develop breast cancer for other reasons, leaving them emotionally, and financially, devastated. Test results can be confusing and, despite careful regulation, some previous tests even provided incorrect results..

Thus, BRCA gene mutation carriers shouldn’t base their medical and lifestyle decisions solely on the results of genetic testing. They should work closely with their primary care providers to establish a plan of action to monitor any potential health changes before taking drastic action such as scheduling a preventative mastectomy or deciding to skip yearly mammograms.

Nonprofessionals may misunderstand or misinterpret test findings

Your genetic test results should not be treated the same way you would an Ikea assembly manual. Even if you’re a medical professional trained to analyze the specific data in front of you, you should not make assumptions or jump to conclusions about what your test results mean.

A positive result does not automatically equal a diagnosis of disease; inversely, a negative result does not necessarily mean you have a clean bill of health. You could end up spending thousands of dollars and hours of time on unnecessary follow-ups or treatments, or completely miss other major health concerns that have nothing to do with your genetics.

In either case, you may very likely end up with a lot of unnecessary stress. Instead, work with your primary care provider to identify any predispositions to disease, and develop a plan to monitor and address any issues that may arise in the future.

Your genetic information may be used in unknown or unauthorized ways

Your genetic information is incredibly personal, and making your data freely available can have far-reaching consequences. Just think of criminals who have been caught after decades of evasion because we can now test old evidence for traces of DNA. Or, on the flip side, consider prisoners who have been exonerated on DNA evidence.

If businesses were allowed to access your genetic information, insurance companies could deny you the ability to purchase life insurance if they found genetic evidence that you are predisposed to expensive health issues.

While most direct-to-consumer genetic testing companies are quick to emphasize their protection of your data, issues can still arise. Hacking can be a major concern, especially in a digital age where a few clever keystrokes can destroy the virtual garrison housing your genetic information. As of today, modern laws are not written with genetic information in mind and may not sufficiently protect your rights to privacy.

You may also have consented to sharing your DNA with research partners without even knowing it, buried deep in the "Terms and Conditions" section of your sign-up agreement. Companies can also change their privacy or consent terms, sell or be sold to larger corporations or potentially share your information with law enforcement.

Even if nothing untoward happens with your DNA, genetic testing can still reveal truths you weren’t prepared to face. Ever since gene-based ancestry searches became more popular, thousands of people have discovered unexpected relatives. In many cases, this is great news — in others, the revelations have been devastating or heartbreaking.

Cost can be prohibitive

The current cost of genetic testing can be prohibitive for many individuals. Most direct-to-consumer kits on the market today only analyze a small section of your genome — less than one tenth of 1% — to assess the specific trait or risk. And in most cases, health insurance will not cover the cost of genetic testing unless you have immediate family history with the health concern in question.

Everlywell charges $199 for a food sensitivity test of the 96 most common foods, while the comprehensive food sensitivity test costs $299. Modern Fertility costs $179 for a home kit. And if you multiply that amount by two, or three or even more for each member of your family, the cost can quickly get out of hand.

Fortunately, this cost drawback may be the simplest to resolve with time and innovation. As technology improves, home testing kits may continue to get cheaper. And in some cases, you may also be able to use FSA or HSA funds to cover the cost of genetic tests, whether they’re drawn in a lab or shipped to your home.

Humanity’s never-ending quest for self-exploration has led us to analyze our smallest building blocks. As you explore this potential way to better understand your body and your health, make sure you protect your genetic information and work with experts to guide your decisions.