Top Reasons Why I Should Get My Genome Sequenced

My childhood dream was to become a genetics researcher. When I reached this goal at the age of 26, I decided to create a new profession in which my geek self was also involved. This is how I became a medical futurist. But genetics has still been close to my heart, and so I’m glad whenever I am invited to speak about my experience with genetic testing. Direct–to–consumer genetic testing was a big thing in the early 2010s. New companies offering such services appeared month after month. I have used three such services, and I like to share what they provided me with, and how, as a geneticist, I analyzed my own DNA information. After one talk, I gave about this a woman in her early twenties told me how worried she was that many types of cancer had affected her family. Given the examples I had described she wanted to know whether she should have her genome sequenced. She was curious whether doing so could tell her what to expect in the coming years. She believed that having information about our DNA comes with a verdict. But it does not. I had my own DNA analyzed while doing my PhD, which made the process quite an adventure. Companies sent me sampling tubes that I sent back with my saliva containing cells and DNA.

A few weeks later I could browse my ancestry and see which famous people I share a genetic background with. But the trick part was seeing what medical conditions I had a predetermined risk for. Tens of thousands of studies have analyzed the connections between genetic codes and specific diseases. If you have cytosine instead of guanine at a certain position in your DNA, you have a bigger risk for developing asthma. Genetic testing companies design their own algorithms and choose what studies to use while calculating your disease risk. For the same DNA sample, I received three different results for the same conditions. One company told me I have an elevated risk for diabetes. Another one said that my risk is lower than the general population’s. I had to be a geneticist in order to draw any conclusions from these. Actions that could actually make a difference to me were missing. I would have liked to learn what lifestyle changes could decrease my risk for developing the conditions each company mentioned.

But the same advice popped up from all of them for each condition: have a healthy diet, exercise more, don’t smoke, and don’t drink alcohol to excess. Oh yes, and have a checkup from your physician once in a while. I got fed up with inconsistent results, and decided to analyze the genome myself. I downloaded the raw data of my DNA into a huge text file containing codes that seemed to make no sense, and uploaded it to a service called Promethease. It costs $5 to do so. But the analysis it provides doesn’t tell you what to think. Instead, it lets you discover associations between your DNA and known diseases. In seconds, a huge list appeared on my monitor showing me the highest correlations between my DNA and the findings of numerous studies. I started browsing and immediately learned interesting things. It marked findings as good or positive, such as my ability to taste bitterness, my decreased risk for autism, Crohn’s disease, colorectal and lung cancer, and my resistance to Prion disease (the kind of infectious particles that cause mad–cow disease).

It marked findings as bad or negative, such as a less robust serotonin processing that can make me susceptible to novelty seeking (which my job depends on), an increased risk for type–2 diabetes, insulin resistance, and nicotine dependence. To be clear, the same conditions appeared on both lists many times. It is hard to draw final conclusions given this. But it was enjoyable to learn my muscle performance is consistent with being a sprinter. It explains why I’ve been one since the age of 6, and why I hate running for long distances. Analyzing genetic information should be much smoother and more efficient than it is now. I see sequencing my DNA soon costing less than shipping the sample. Billions of genomes will be available before we can practically use the information in medical decision–making. Genome sequencing will also become a storage issue, making informatics a bottleneck. In 2013 the FDA published its concerns about what direct–to–consumer services really provide. It also questioned the scientific background behind them.

Their scrutiny led to shutting down most of the mail–order services, leaving genetic testing in the purview of institutions and medical professionals. After its initial hype, direct–to–consumer genomics is plummeting. Soon I think they will rise again like the phoenix. When Illumina, a company offering sequencing services, announced in 2014 that hundreds of thousands of new genomes would become available soon, it was a signal that the price per sequencing would be under $1,000. Heealthy, a medical tourism company in India, is offering genome mapping to all its patients for $300. Abhishek, the CEO of Heealthy told me that nearly 0.1 % of the travelers who come to visit India for leisure are opting for this. Abhishek further told that while genome mapping is still costlier in west, the cost in India is fairly low and that attracts many of the leisure travelers as well. Travelers who come with a dual plan of looking for affordable hospitals in India find it lucrative.

As the price continues to go down, the number of people wanting their genomes sequenced will skyrocket. It should reach a million around 2017, and ten million by 2020. Services will be available for newborns that provide parents with their sequence data. This can even be done prenatally, because the child’s DNA can be extracted from the mother’s blood. This can tell parents what illnesses their child will face during their lifetime. All of this leads us to genetic engineering. When we can make diagnoses based on genetic backgrounds? What will prevent people from making changes to their genomes when the method to do so becomes available? Gene therapies exist for Parkinson’s disease, certain immune conditions, and a form of leukemia. The first gene therapy treatment was approved only in 2012. In April of 2015, Chinese researchers reported that they could edit the DNA of non–viable embryos. This launched major ethical debates.

The problem lies not in wanting to cure diseases this way, but when this impulse turns to enhancing existing capabilities rather than repairing damaged ones. Transhumanists could talk about this for hours. When devices capable of DNA sequencing become small enough and simple to use they might be employed in the home. Oxford NanoPore’s MinION is a portable device for real–time analysis of DNA. Samples include blood, serum, or water. It connects to a computer through USB and can analyze immediately. DNA sequencing today takes place in huge institutions with rows of machines working tirelessly. Then an army of bioinformatics experts makes the data available. If portable devices reach a certain efficiency and quality, cognitive computers could do the hard job of transforming the pure data into conclusions relevant to everyday health.

Newer services such as uBiome go even further. It offers genome sequencing of the bacteria that live in our digestive system. By analyzing the composition of these organisms, it can tell customers whether they have the microbiome of heavy drinkers, vegetarians, or athletes. While individuals can obtain the sequence of their DNA and that of their gut bacteria, making medical decisions based on that information is fraught. The biggest issues in the coming years will be the cost of sequencing dropping to almost zero, and the improvement in quality of conclusions that are drawn from the data as well as the general understanding of what genomics can provide. It is worth having our DNA data, but it might be worth waiting a little bit longer. A genome is not about predestination, but risks. Genetics loads the gun, lifestyle pulls the trigger. Unless we become experts about our own health, even the most detailed genetic report will be useless.


A traveller by day and reader by night' is how I would sum up my life. My wanderlust led me to quit my cushy job at 28 and finally embark on a journey around the world. Since then, I have lived in many countries and soaked in as many books as possible during my travel journeys. Among them, the "Book of Mirdad" is still my personal favourite and holds a special place in my heart. My progression towards writing was inevitable and happened quite naturally. I have been writing for a few years now an...

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