A few years ago, one of my patients—let’s call her Pandora—bought four DNA testing kits as holiday gifts for herself and her siblings. He saw TV commercials that promised to reveal a few ounces of spit otherwise unobtainable details about his family backgroundand he thought it would be fun to share this introductory experience with his younger brothers.
When the results arrived, she eagerly opened them and was immediately confronted, not with information about her heritage, but with an offer: for a few extra dollars, she could unlock access to her health characteristics in addition to the ancestral data she had signed up for. up Was he more or less sensitive to caffeine than the general population? Was he more likely to be a deep sleeper or a light sleeper? Was the bloating she felt every time she ate ice cream “all in her head” (as one of her doctors suggested) or could her lactose intolerance be genetically determined? Without much hesitation, he decided to buy the add-on.
That’s how he found out that he was carrying two copies has APOE4 the mutation which, according to the latest estimates, means its development opportunity Alzheimer’s disease it can be close to 100 percent.
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After recovering from the initial shock, Pandora took this news in stride. She met with her primary care provider, who instructed her to focus on prevention strategies: diet and exercise. He ate more vegetables and exercised at least five times a week. Overall, she appreciated the knowledge of her genetic status, which gave her a sense of power and agency over her destiny.
All’s well that ends well, right?
Not exactly.
Genetic testing revealed that one of Pandora’s younger brothers also had two copies APOE4 the gene And he took the news in a very different way. In the weeks following the revelation of his increased risk of Alzheimer’s, Pandora’s brother sank into depression and despair. Where Pandora saw opportunity—even a call to arms—her brother saw only doom.
As a clinical neurologist, I often refer patients to experienced genetic counselors to discuss whether DNA testing makes sense. Not infrequently, it does. In many contexts, genetic analysis can provide critical insights, empowering patients to make decisions about their own health. But the first step in the counseling process is explaining how the test works and determining whether a person should undergo genetic testing. Without the advice of an expert, it can be the challenge to understand the implications of genetic results, and to know exactly what someone is being tested for, and what they are not.
For those who can navigate its complexities and understand its limitations (this may require advanced degrees biology and perhaps contract law), direct-to-consumer genetic testing can provide interesting and—sometimes—useful information. But the decision to reveal our genes, by any method, requires deep consideration of how we deal with uncertainty, the weight of foreknowledge, and potentially bad news. And this deeply personal choice should never be made on someone else’s behalf. Genetic testing kits can play an important role in our increasingly personalized health care, but they shouldn’t appear under Christmas trees, next to or around the menorah. mkekaswith arches above.
However, if you’ve given away a direct-to-consumer genetic test kit in the past, don’t be too hard on yourself. On the surface, these kits seem like logical and meaningful alternatives to giving away a monthly subscription to soft cheese or a pair of wool socks. And the industry’s holiday marketing campaigns focus more on the family ties of the season. Advertisements that highlight the possibility of meeting long-lost relatives or discovering forgotten bloodlines can help. big discounts with the purchase of multiple test kits (plus free gift wrap). Direct-to-consumer test earnings reports companies confirm customer demand frequently increasing in the last months of the year.
The compulsion to examine all rungs of our genetic ladder continues with other trends in health and wellness, gut microbiome analysis and continuous glucose monitoring (in people without diabetes), to full body MRI scan. Since James Watson and Francis Crick revealed the structure of double helix Over 70 years ago, our understanding of the science behind heredity has expanded exponentially, paving the way. innovative treatments and in some cases the ability to intervene years before a disease has a chance to take hold. But genetic testing has also introduced many challenging ethical and philosophical questions—data privacy, the nature of identity, potential discrimination, and the risks of misinterpretation, to name a few—into the practice of modern medicine.
If these questions have made some consumers wary of sending their whites to corporate entities, market research has not captured their reluctance. for 2019 More than 26 million people worldwide already participated in direct consumer DNA testing (full disclosure: I am one of them, but I did not receive my kit as a gift). The global value of the industry in 2023 was estimated 17,700 billion dollarsand growing
In the last decade, stories bury family secrets—hidden siblings, secret love affairs, and secret adoptions, to name a few—have received widespread attention as the most fabled and unintended consequences of commercial genetic testing. But for high-risk carriers, the manifestations of genetic disease predispositions are less dramatic.
If you think it’s strange that a glimpse into the future could have such a big impact, it shouldn’t. Many of us are, after all, creatures shaped by what we believe. Knowing what lies ahead, or thinking we know it, can become the invisible architect of our present lives, changing how we perceive ourselves and our place in the world. The ancient Greeks understood this, as did Shakespeare; Oedipus and Macbeth, for example, were undone by the power of prophecy.
Psychologists call this type of thinking “future-oriented bias”—the tendency to make predictions about what to bias our thoughts, actions, and even our identities toward. maybe be But, even if we choose to ignore all the prognostications foretold by the shadow of fate, for some more than others, it tends to linger in the psyche.
APOE4, The most well-known genetic risk factor for late-onset Alzheimer’s disease is not the only health-related variant that can wreak psychological havoc on gift recipients, but it is among the most mentally burdensome, as treatment and prevention options for Alzheimer’s disease remain relatively limited. . (Although Watson, one half of the pair who discovered the structure of DNA, had his own APOE4 redacted status when his genome was sequenced.) Genetic testing companies offer the opportunity to hide specific mutations and their associated disease risks, among other things. APOE4/Alzheimer’s But without a solid understanding of genetics, consumers (like Pando’s brother and many others) may not realize why this option matters until it’s too late.
If you’re thinking about giving the gift of genetic insight this holiday season, I urge you to keep going. Have open conversations with your loved ones about the implications and risks, and encourage them to consult with a genetic counselor before making any decisions. When it comes to unlocking the secrets of our DNA, the greatest gift is not a test tube waiting to be filled, but the freedom and space to choose when and how to explore those secrets.
This is an opinion and analysis article, and the views expressed by the author(s) are not necessarily their own. American scientific
