With all the health test kits, DNA tests, ancestry services, and advanced health screening services out there today, it can be overwhelming to wade through the possibilities of what is within reason in this day and age. Can a test really tell me that? Should I order this test and find out if I have that? Should I have my baby screened in utero just to check for abnormalities? Will taking this test help protect me from that? As science progresses and humanity advances, more and more tests and procedures will fall within the realm of possibility.
But are all of these tests safe? Are they helpful? What can they do for us? In this article, we’ll take a look at some of the recent advancements in genetic testing and discuss whether these are safe, ethical, and worthy of pursuing, whether personally or for medical purposes.
DNA and ancestry tests
The proliferation of genetic testing which allows us to take a closer look at our DNA and genetic makeup recently began trending and still remains in full swing. Tests from companies like AncestryDNA, 23andMe, and more have seen a huge rise in popularity, and millions of people around the world have turned to them for answers and insight into their own genetic makeup.
Not only can these tests tell you about your ancestry and racial profile, they also have the ability to reveal certain insights into your medical background. Understanding the background on your genetics and knowing what illnesses you may be most susceptible to can help you to prevent or ward off certain diseases and live a healthy lifestyle optimized for your particular needs.
But can you trust these tests? Is it safe to send samples of your DNA to a company that may be able to turn around and sell it or otherwise use it for their own profit? Maybe not...
To learn more and take a deep dive into this subject, check out our article Are DNA Tests to Discover Your Ancestry Really Safe? In this article, we explore whether your sensitive information is truly safe in the hands of large corporate moneymakers.
Genetic autism testing
Did you know there is such a thing as genetic autism testing? This is useful in identifying exactly what sort of mutation occurred on a genetic level that resulted in autism. While genetic autism testing is more common in Europe, it is not often used in the United States.
“In France, some two-thirds of autistic children receive some kind of genetic test, paid for by the national health service,” says an article on Spectrum News. “That’s twice as many as are tested in the United States, where insurance companies typically don’t cover the cost of the tests. Most French children with autism are screened for the related fragile X syndrome or get a ‘chromosomal microarray analysis.’ This latter test detects large deletions or duplications of DNA associated with autism. Some hospitals also use gene panels, particularly for children with severe traits, to look at a small subset of the 99 genes strongly tied to the condition. But these targeted tests yield results less than 30 percent of the time. And outside of a research study, few autistic children receive anything more comprehensive.”
Europe is now focused on studying autism more scientifically, as evidenced by their plans to build sequencing facilities, create databases of their research, and then use the genetic testing results to incorporate into standard healthcare.
However, “Even when clinicians and families know about the available tests and the costs are covered, they may still eschew testing because there is confusion over what to do with the results. The balance between an individual’s right to privacy and the impetus to disclose genetic results varies enormously across borders, in part thanks to cultural differences. Extreme stances on either end have dramatic consequences for how doctors and families approach genetic testing.”
Are people obligated to share the results of their genetic testing? A desire for privacy in the larger scientific community may be understandable (though the information is invaluable for the advancement of humanity) -- as there is a risk of genetic discrimination or worse, after all -- but what about with family? Are people morally bound to disclose any genetic anomalies or predispositions to members of their family?
Some countries treat this sort of information more sensitively than others, even across Europe. In Switzerland and the Netherlands, for example, insurers are allowed to consider the results of genetic tests when they craft life insurance policies. And in Norway, people may have to pay more for their health insurance if they have certain genetic mutations. However, in Germany, information like this is kept so confidential that are not even allowed to discuss a child’s results with his or her other doctors, unless the parents provide written consent.
Regardless of the sensitivity of the information and the confusion on what to do with it, most can agree that genetic testing for autism and other conditions is helpful and should become more commonplace.
One family shares their story in Spectrum News: “For Gabin, the results of his whole-genome sequence completely changed his family’s outlook on his autism. Laurent Savard says he cried after learning about his son’s mutation, but it also made him hopeful about scientific advances. ‘Immediately after, I read on the internet that mice with mutations in SHANK3 had become typical after a molecular treatment… I then imagined that Gabin would become typical one day, talking, telling me what he experienced on the inside.’”
Genetic autism testing may somewhat rare now, but for the sake of the people and families affected by autism, we can only hope that it will become more commonplace as time goes on.
Newborn screening and prenatal testing
It may seem like something out of a science fiction movie, but neonatal screening has actually been around for the past few decades. Testing for harmful or potentially fatal disorders can make the difference between life and death. According to KidsHealth, “With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare and most babies are given a clean bill of health, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development.”
In fact, there is even an International Society for Neonatal Screening (ISNS). The organization’s aim is to advance screening for neonatal and infant sicknesses and disorders. According to their website, “ISNS is recognized worldwide for its contributions to the detection of neonatal conditions and the prevention of their adverse outcomes through excellence in neonatal screening.”
Their mission is “to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices that benefit all family members and their babies by helping to ensure protection of babies from life-quality threatening conditions, such as phenylketonuria, congenital hypothyroidism, severe combined immunodeficiency, cystic fibrosis, hemoglobinopathies, and many others.”
In addition, prenatal testing is often done on pregnant women to find out if their baby may have birth defects or harmful genetic conditions. According to March of Dimes, there are both screening tests and diagnostic tests for babies in utero. While a screening test determines whether your baby is more likely than others to have a health condition, a diagnostic test determines for sure if your baby has or does not have a health condition. “Screening test results can help you decide if you want to have a diagnostic test. You may or may not want to know if your baby has a health condition. If you decide to have a diagnostic test, you can learn more about your baby’s condition and how to care for your baby after he’s born. You also can make plans to give birth in a hospital that can give your baby special medical care.”
And this leads to a possible moral and ethical dilemma. If we screen newborns or perform prenatal testing and discover that there are issues, what should we do about it? Or, if we have the power to alter an unborn person’s genetic code while they are still in utero, should we take advantage of it?
Home health testing
A relatively new company that offers a wide variety of home health testing kits is growing in popularity and making headlines, especially after they appeared on the hit TV show Shark Tank. Some examples of EverlyWell’s home health testing products include food sensitivity tests, postmenopause tests, women’s fertility tests, heart health tests, HbA1c test, a cholesterol and lipids test, Omega-3 tests, and even sexually transmitted disease tests -- and that’s just to name a few. The tests range in price.
These tests can be extremely helpful and assists the patient in taking their health into their own hands. Men’s Journal even wrote about how athletes can use these tests to optimize their health and athletic performance. However, some people wonder if these tests are truly trustworthy and legitimate. According to EverlyWell’s website, “partner labs are the same laboratories used by hospitals and physicians around the US” and are CLIA-certified. They also conduct original clinical research.
It’s likely that consumers will see an uptick in more tests like this hitting the market. The more people can take their health into their own hands -- and decrease long lines, dragging waits, and lack of clear communication at health centers and doctors offices -- the better the outlook for patient care and disease management.
In fact, it has been reported that even Amazon is exploring the possibility of introducing home health testing kits. They recently acquired Confer Health, a startup that develops hardware and materials for at-home medical testing, which gives consumers to view their test results in a matter of minutes rather than days.
While rumors swirl about Amazon’s possible entrance into the health diagnostics space -- where some of its main competitors would be EverlyWell, Quest, and LabCorp -- one thing is clear: this is a market that’s on the rise, and big companies are taking notice.
Genetic testing for your prescription medications
Did you know there are known genetic markers that impact your metabolism or response to a drug? One company in particular is taking this ability and running with it, giving users a way to more quickly and painlessly find their way to a prescription regimen that works for them.
This new product in the world of health testing allows you to order a genetic test kit for your prescriptions and medications. LifeLabs Genetics in Canada offers what might be a new frontier in the world of at home genetic testing for medications: the TreatGxPlus pharmacogenetic test allows you to optimize your medication journey by shortening the time and process it takes for patients to reach their appropriate medication and dosage regimen.
According to the website, the test, which costs $499 USD, is intended for people who are taking multiple medications, struggling to find an effective medication, and/or proactively want to understand how their genetic breakdown affects future prescriptions. “Pharmacogenetics looks at the effect of genetic factors on response and the potential for adverse reactions to drugs. TreatGxPlus includes a pharmacogenetic test that looks at an individual’s response to different drug therapies by analyzing their genes and how they impact how the individual metabolizes and responds to medications.”
These tests sometimes just lead to more testing, as they cannot always determine exactly the optimal prescription for a patient, but they certainly provide a leg up and more helpful information than not having it. Quality prescription meds are also an important part of the healing process. Reach out to us if you need help to order prescription meds safely.
Another new health test that’s making progress is a test for sepsis. According to the BBC, “A new rapid test for earlier diagnosis of sepsis is being developed by University of Strathclyde researchers.” Sepsis sometimes involves a fatal consequence, especially when diagnosis is delayed, so being able to diagnose it more quickly than ever has serious potential to save lives.
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