“It is not a Pandora's box that science opens; it is, rather, a treasure chest. We, humanity, can choose whether or not to take out the discoveries and use them, and for what purpose.”
John Sulston (1942- ), The Common Thread, 2002
“Your genome knows much more about your medical history than you do.”
W. Daniel Hillis (1956 -), Transcript from TED – Understanding cancer through proteomics, 2011
There are very few people amongst the seven billion of us on the planet have done what I did a couple of years back. I’m one of the privileged few—0.000005% of the population—who’ve undergone what the technophiles call genome sequencing. In layman’s terms, I’ve had my genes read. And I’ve got the sequence on an iPad, with all the complexity of each chromosome displayed in colour, and in great detail.
The reading of a genome might seem to most of us as mysterious as tasseography, or the reading of tea-leaves, but it’s conceptually not too difficult to appreciate. Genomes are usually more prosaically compared to books, with each individual narrative containing 46 chapters, one for each of my chromosomes.
I had to have my blood taken, and sent off to the lab. My DNA was extracted and then spliced—literally chopped up—into 300 pieces, for ease of analysis. These fragments were then put back into book form again, so they made sense and could be read in sequence.
In the lab, experts scanned the data—all the unique genetic markers that make me, me—for interesting features (anomalies, or mutations). It’s a little like searching for very scarce typing errors in Homer’s Odyssey.
And then the really important thing happened—the smart scientists in the lab considered what the data were saying to them, and did an interpretation of my anomalies. They had to decide which of my typos were “clinically significant.” In other words, were my variations ones which have been linked to known diseases or conditions, or were they harmless?
I now carry my genetic profile around with me. Aren’t iPads versatile? I can surf my genome any time I want to, and search through a list of those clinically significant gene variations (and, thankfully, a much longer list of variations that were not found in my genes). But as surreal as the experience is, I need to put it in some sort of perspective.
They say that forewarned is forearmed, but what’s important to appreciate is that this is not an exact science. And although scientists have managed to link particular genes to particular conditions, there are many more they haven’t yet identified. When I look at my genetic patterns I can read some information, but to be honest, there are a whole lot that remain inaccessible: science has yet to work out what genes, and combinations of genes, relate to all the illnesses that could befall me, or that contribute to my good health.
In addition, the genome typos that have been uncovered don’t necessarily guarantee that I’ll have a certain condition, or even if I do, whether it will have any effect. I’m not any closer to knowing the date of my own death, or what will kill me, or even what I can do to minimise the negative impact of any latent diseases, or disease propensities, that my particular genomic narrative has revealed.
While it might not yet provide the Holy Writ of our individual health narratives, the implications of genetic sequencing are about to get a whole lot more serious, though. Only a few years ago the commercial price for an individual’s gene sequencing was $100,000. I paid $5,000, which included access to terrific genetic advice after the results were reported. Just a few months later, the cost fell to $1,000. It’s likely that in the near future such tests will become cheaper, as well as more efficient, with some companies aiming for a sequencing cost of less than $100.
So it’s possible that, sooner rather than later, we’ll all have access to our genomic data. That’s right—all of us. It’s this that means we’re on the brink of a medical revolution on par with advances such as penicillin, or X-rays.
The genomic revolution, like every beneficial revolution when it spreads far and wide, then, will have far reaching consequences. Most of them will be good, but not all.
Let’s transfer some of what I’ve found across to you. Say you decide to have your genes spliced, simply because, like me, you are curious about your health.
Imagine for a moment you find that you have a predisposition to cardiomyopathy – but not cancer; puzzlingly, even though you have several family members who have had colon cancer, and who died of this disease at a relatively young age, so that’s what you thought would take you out. Cardiomyopathy is a type of heart disease that can kill you quickly, and with little warning. And you may not only have this on your gene, but you’re probably a carrier, so your children may inherit this variant of the gene.
What should you do next? The obvious first thing is to go see a genetics counsellor or doctor. They can start to calibrate the advice and care that’s required to alleviate or mitigate your heart condition, or any other illnesses uncovered by this new genetic information. Such information provides incredible possibilities for proactive health care, and the medical community is very excited—for example, some 98% of US doctors believe that knowing a patient’s genetic profile would help them better prescribe medications.
For me, this is the essence of the revolution. Across almost all of medicine, the clinicians have to wait, on standby, for something to happen to you. You fall over on the street. Feel depressed or anxious. Acquire an infection. Realize after a binge that you’re drinking too much. Wake up with a sore knee, or jaw, or with a breathing difficulty. If it gets sufficiently troubling, you go see someone. A family physician, a clinic, or emergency department.
The point is, you are getting treatment after the event. With genetic knowledge, Pandora’s box is opened up before the signs and symptoms.
There’s more to it than that of course. Knowing someone’s genetic makeup will allow medical practitioners to target an individual’s drug regime with a precision that’s been impossible up till now. Prescribing the right dose of the right drug to be taken at the right time to the right patient has proven challenging when there are so many variables at play—but a discipline called pharmacogenomics, which is where drugs and genes interact so we understand how different genetic profiles of people react to different drugs, can cut through all the variables.
For society, the ultimate revolution might come when we routinely sequence the genes of newborns and add this information to their medical record. Not only will each member of this “genomic generation” be able to be treated early for any abnormalities, and be given an individualised wellness plan, but we’ll uncover links between genes and diseases across whole populations.
Yet strangely, while the genomic revolution will bring incredible benefits, the fundamentals of living a long and healthy life aren’t really going to change dramatically. To be frank, we don’t really need to wait to wait for any technological breakthroughs. Regardless of our genetic make-up, we already know what we have to do for our own health and welfare. We need to eat a balanced diet, get sufficient sleep, keep the weight off, stay fit, be as psychologically healthy as we can, and resist poisoning ourselves with cigarettes, drugs, and excessive alcohol. Oh, and do see a doctor for any worrying symptoms, early, not late. This will be sufficiently protective of most of us, most of the time, in the vast majority of cases. That’s the secret, not-so-secret blueprint for a healthy life.
Nevertheless, access to genetic profiles means doctors and patients will provide an incentive for people to be able to better manage lifestyle decisions in a targeted way. People are far more likely to modify their behaviour when there’s a foreseeable, individual-specific, risk. If all goes according to the proponents of the revolution, eventually every patient will have his or her own unique circumstances—their clinical history, their current lifestyle and genomic information—combined in an integrated, personalised plan. So do the healthy things based on the universal well-being list, and have targeted treatment for your specific conditions based on your individualised genetic data base. The best of both worlds.
As with all revolutions, the genomic revolution may have its downside. There will be some people who don’t want to know about—or confront—the scary things that may be lurking in their genome. Whatever the possible benefits of such knowledge, it’s not necessarily comfortable to discover you have a risk for heart disease, or breast cancer because of a harmful mutation in the BRCA1 gene or the BRCA2 gene, like Angelina Jolie, or a predisposition to hemochromatosis on another gene.
I predict the “worried well”, already a sizeable cohort in any population, will grow in number. Many folks, especially those without a medical or scientific background—most of society—will be apprehensive, even alarmed.
And once you’ve been given information about your genome, you will be obliged to disclose details to life and health insurers. Depending on the risks evident in your particular genetic makeup, you may have to pay additional premiums, or may even have your insurance denied.
Cost is yet another factor. Governments will need to make huge financial investments to pay for all the tests, and extra medical attention. More genetic counselling will be required. Greater computer capacity will be needed to handle all the data—another expense. And extra care will have to be provided as we uncover previously undiagnosed conditions, putting new pressures on the health dollar.
Moreover, all the ethical dilemmas have not been sorted out—not by a long chalk. What do you tell your partner, or worse still, your children, if they’re likely to be adversely affected by a previously unknown or even strange condition you’ve discovered you are now exposed to? That could mean they’ll need to care for you, or it could shorten your life. And your blood relatives share your genes, and your partner shares the burden of your new-found risk.
Then there’s the reaction of others. Will discrimination rear its ugly head if we have a predisposition to a condition that others will worry about, such as alcoholism or depression? Do we need to tell prospective employers? Landlords? Neighbours? What about privacy in a world where digital transparency, or the potential to be hacked, is omnipresent?
Worse still, it’s certain that inequality will widen, particularly the health gap between the rich and the poor? Where will the commercial nature of the technology leave those who can’t afford to utilise the technology? The 1997 Sci-Fi movie Gattaca was disturbing for just these reasons—the bright future provided for the genetically superior versus the exploitation of the genetic underclass.
Yet most people will, doubtless, agree that the benefits will outweigh the costs. And as we discover more about the effects of genes, so too new targeted preventative measures and treatments will evolve. Whichever way we deal with the new genetic capability, a new world beckons.
Further Reading:
Kirk, Edwin. (2021). The Genes That Make Us: Human Stories from a Revolution in Medicine. New York: Scribe Publications.
Stanek, Eric, Sanders, Christopher L, Taber, Katherine A, Khalid, Mona, Patel, Aanal, Verbrugge, Robert R, Agatep, Barnabie C, Aubert, Ronald E, Epstein, Robert S, Frueh, Felix W (2012). Adoption of pharmacogenomic testing by US physicians: results of a nationwide survey. Clinical Pharmacology and Therapeutics. 91: 450–458.
Stark, Zornitza, Dolman, Lena, Manolio, Teri A, Ozenberger, Brad, Hill, Sue L, Caulfied, Mark J, Levy, Yves L, Glazer, David, Wilson, Julia, Lawler, Mark, Boughtwood, Tiffany, Braithwaite, Jeffrey, Goodhand, Peter, Birney, Ewan and North Kathryn N. (2019). Integrating genomics into healthcare: A global responsibility. The American Journal of Human Genetics 104, 13–20.