A few years ago, a patient of mine (let’s call her Pandora) purchased four DNA testing kits as holiday gifts for herself and her siblings. She had seen a television ad in which a few ounces of spit revealed otherwise unknowable details about her family’s origins, and she shared this revealing experience with her younger brothers. I thought it would be fun.
When the results arrived, she eagerly opened the document and immediately saw not information about her genetics, but a suggestion. For a few extra dollars, she could unlock access to her health traits in addition to the ancestral data she signed. That’s it. Was she more or less sensitive to caffeine than the average person? Was she a deeper or lighter sleeper? The bloating she felt every time she ate ice cream Was it “just in her head” (as one person suggested) or was her lactose intolerance genetically proven? Without much hesitation, she decided to purchase the add-on.
Then she realized that she was carrying two copies of this book with her. APOE4 According to recent estimates, this mutation means she has a nearly 100% chance of developing Alzheimer’s disease.
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After recovering from the initial shock, Pandora took the news in stride. She met with her doctor who told her to focus on preventive measures such as diet and exercise. She ate more vegetables and exercised at least five times a week. Overall, she felt grateful for the knowledge of her genetic condition, which gave her a sense of power and agency over her own destiny.
All’s well that ends well, right?
Not exactly.
As a result of genetic testing, one of Pandora’s younger brothers also… APOE4 gene. And he took this news in a completely different light. In the weeks after it became clear that he was at increased risk for Alzheimer’s disease, Pandora’s brother fell into depression and despondency. Where Pandora saw opportunity, even a call to arms, her brother saw only doom.
As a clinical neurologist, I often refer patients to an experienced genetic counselor to discuss whether DNA testing makes sense. Very rarely. In many situations, genetic analysis can provide important insights and enable patients to make informed decisions about their health. However, the first step in the counseling process is to explain how the test works and determine whether you need to undergo genetic testing at all. Without expert advice, it can be difficult to understand the impact of genetic results and know exactly whether a person is or is not being tested.
For those who can navigate its complexities and understand its limitations (this requires an advanced degree in biology and possibly a degree in contract law), direct-to-consumer Genetic testing can provide interesting and sometimes useful information. But making the decision to reveal our genes in any way requires deep thinking about uncertainty, the weight of foresight, and how to deal with potentially bad news. there is. And this deeply personal choice should never be made on behalf of someone else. Genetic testing kits may play an important role in our increasingly personalized healthcare, but they should not be placed under the Christmas tree, next to or around the menorah. Mukekaswith a ribbon on top.
Still, if you’ve offered direct-to-consumer genetic testing kits in the past, don’t be too hard on yourself. On the surface, these kits seem like a logical and meaningful alternative to gifting someone this month’s soft cheese subscription or another pair of wool socks. And the industry’s holiday marketing campaigns capitalize on this season’s increased focus on family bonds. Commercials highlighting the possibility of finding long-lost relatives or discovering forgotten lineages may be accompanied by deep discounts on multiple test kit purchases (plus free gift wrapping) there is. Earnings reports from direct-to-consumer testing companies confirm that customer demand often increases during the final months of the year.
The urge to scrutinize every step of our genetic ladder joins other trends in health and wellness, from gut microbiome analysis and continuous blood sugar monitoring (for people without diabetes) to full-body MRI scans. It’s linked. Since James Watson and Francis Crick uncovered the structure of the double helix more than 70 years ago, our understanding of the science behind heredity has expanded exponentially, paving the way for breakthrough treatments. This opens the door to intervention, in some cases years before the disease progresses. A chance to seize. But genetic testing also injects a wide range of difficult ethical and philosophical questions into modern medical practice, including data privacy, the nature of identity, the potential for discrimination, and the risk of misunderstanding, to name a few. Masu.
Even if these questions make some consumers wary of salivating over companies, market research doesn’t capture their reluctance. By 2019, more than 26 million people around the world had already participated in direct-to-consumer DNA analysis (full disclosure: I’m one of them, but I didn’t receive the kit as a gift). The global value of this industry in 2023 is estimated at $17.7 billion and growing.
Over the past decade, stories of family secrets uncovered, including hidden siblings, clandestine love affairs, and top-secret adoptions, have garnered widespread attention as the most legendary unintended consequences of commercial genetic testing. Ta. But for high-risk carriers, the exposure of genetic disease predispositions can be just as dramatic.
If it seems strange to be deeply affected by a glimpse of the future, it’s not. After all, many of us are creatures shaped by what we believe might happen to us. Knowing, or thinking we know, what lies ahead becomes the invisible architect of our present lives, the way we define ourselves and our place in the world. You can change how it is recognized. The ancient Greeks understood this, as did Shakespeare. For example, Oedipus and Macbeth were nullified by the power of prophecy.
Psychologists call this type of thinking “future bias.” That is, the tendency for our predictions to bend our thoughts, actions, and even our identities toward what we want them to be. maybe Get used to it. But even if we decide to ignore all prophecies, some prophecies are more foretold than others., It tends to remain in the mind.
APOE4, Although the strongest known genetic risk factor for late-onset Alzheimer’s disease is not the only health-related variant that can wreak psychological havoc in gift recipients, treatment and prevention options for Alzheimer’s disease remain It is the most mentally taxing thing because it is very limited. . (Even Watson, one half of the duo who discovered the structure of DNA, has a famous story. APOE4 Some genetic testing companies offer the option of hiding certain mutations and their associated disease risks. APOE4/Alzheimer’s disease. But without a solid understanding of genetics, consumers (like the Pandora brothers and countless others) may not understand why such choices matter until it’s too late. .
If you’re still considering giving the gift of genetic insight this holiday season, we recommend proceeding with caution. Talk openly with your loved ones about the potential implications and risks, and encourage them to consult 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 or if to explore those secrets.
This is an opinion and analysis article and the views expressed by the author are not necessarily those of the author. scientific american.
