When a genetics researcher journeys into the depths of his genetic code
to unravel its secrets. The first installment of a 3-part series.
By Steve Witte
A few years ago, I flew from Michigan to England, where I’d come to be a graduate student at the University of Cambridge to research immune disorders. As a future genetics researcher, I thought I should get my genome sequenced. Though perfectly healthy – I was young, active, and fit – I wanted to make sure things stayed that way (active and fit anyway). Based on family history, I could have DNA variants that cause cancer, heart problems, and an assortment of other diseases. Armed with knowledge of my genetic code, I believed I might be able to avoid any hidden problems that could arise later on. However, how I would afford this expensive test was difficult to imagine. A graduate student living in the UK, I didn’t even have enough money to visit my family in the United States the previous holidays.
I also needed someone to process my genome – read the letters of my genetic code, one by one. I searched around, and found a sequencing company, but they only accepted a few hundred people per year. They were running out of openings, and told me that if I wanted my genome, I needed to get my DNA to them in California, halfway across the world, within five days. This was a real challenge because I needed permission from the UK's sluggish National Health Service. They frown on discretionary requests like mine, seeing them as a waste of money.
Still determined, I next wrote a few emails requesting financial help. The scholarship program, which pays for my tuition, also occasionally covers costs for us to attend scientific meetings. I hoped to persuade them that sequencing my genome was an educational exercise, though I knew this would be a tough sell.
Few people have sequenced their genomes, largely because of the high cost. Until a few years ago, only the rich and famous could afford it. Steve Jobs sequenced his genome when his pancreatic cancer relapsed in 2011. Sadly, scientists found no genetic vulnerabilities in his tumor, and he died later that year. Scientists have also studied genomes to understand survival. Ozzy Osbourne gave his genome to science, to understand how his body had not only survived, but stayed healthy, despite 40 years of hefty binge-drinking and drug abuse. Unfortunately, scientists could not find any leads in his genome either. These stories made me wonder: will scientists deliver on the promises of the human genome project? Or was the whole undertaking too ambitious?
On the other hand, I learned that doctors and scientists had used genome sequencing to save the life of a child with a rare disease. Since infancy, Nicholas Santiago Volker had devastating inflammation in his intestines. His insides leaked out through his skin. Hundreds of surgeries and countless tests later, doctors remained baffled. However, genome sequencing revealed a genetic problem. Nicholas was treated, and he now lives a near-normal life (take a look at the Rare Diseases E-Book for more on Nicholas' story, available on this website). Since then, thousands of children have benefited from genome sequencing. However, it doesn't help everyone. Doctors find disease-causing genetic mutations in only 40% of children with a rare disease.* Scientists have a long road ahead. Although we now have a complete genome map, really, we only understand a small fraction of it.
In spite of these difficulties, I remained optimistic. My genome sequence would be useful, I thought to myself. I worked at one of the largest genetics institutes in the world, surrounded by experts who could help me comb through my DNA sequence. I probably wouldn't learn whether I would die of a heart attack like my grandfather, but perhaps I could see if my risks were slightly higher than the average person’s.
At the last minute, I received some good news - the financial aid I’d requested had been agreed to. Now I could pay for the test, but I still had to convince a doctor in the UK to go along with it. A difficult task, I knew, from my experience visiting a doctor in England a year earlier with a respiratory infection. For anyone who has not visited a doctor in the UK, the duty of every GP (primary care doctors are called General Practitioners in the UK) is to preserve the precious medical resources of the NHS, only doling out tests and treatments for serious needs.
As I recall, the gist of our interaction the previous year went as follows:
Me: “I just can’t stop coughing.”
GP: “Yes, you have an infection.”
Me: “Well, can you treat it? (Cough, cough). I’ve had it for a week now.”
GP: “No, I’m sorry, it will clear on its own in a few days.”
Me: “…cough, cough… OK, well can’t you prescribe me an antibiotic?”
GP: “No, our office is cutting down on prescription drug costs.”
Me: “What if I pay for it out of pocket?”
Me: “… cough, cough, can I have some cough drops then?”
Me: “How about one cough drop?”
GP: “Get out of my office.”
(Oddly enough, people in the UK actually have a longer life expectancy than Americans do.)
Now I was returning. Instead of an inexpensive antibiotic, I wanted my blood drawn – also inexpensive – for a test that most GPs still associate with science fiction. I lacked an obvious medical need, and unable to think of a reasonable excuse, my chances were slim.
To get to my GP’s office, I rode my bike down Cambridge's crowded stone streets. I passed colleges that produced some of the world’s finest intellectual work, including the discovery of the structure of DNA, and other breakthroughs that made DNA sequencing technology possible.
Although pride in these achievements permeates most of the city, this insight did not appear to have yet reached the tiny alley containing my GP’s practice. I strode past a cheese shop, up the stairs and into the clinic to have my blood drawn and paperwork completed. Unfortunately, on entering the office I learned that they’d given my coveted appointment to another patient.
It turned out that on second look, the GP had decided my appointment could not claim “necessity” status. And so, with only a few hours before the post-office closed, I panicked. The only option remaining was to pay to get my blood drawn. It would cost 90 pounds (about $150) to get a private GP appointment, completely bypassing my NHS coverage, an option I’d not previously been aware of, but which also seemed unlikely at this late point in time.
Finally, though, I managed to find an opening in a GP’s office. It was late afternoon as I winced while the nurse punctured my arm. Afterward, I held the cotton swab as she placed a bandage on top. Then she handed me my vials, full of my blood, still warm. Again, I pondered what I was about to do.
Akin to opening Pandora’s box, a genome can contain all sorts of secrets. Sometimes people find out they have good versions of genes that will protect them from diabetes or Alzheimer’s disease. But other people will learn the opposite. In some cases, medicines can prevent or treat genetic diseases, but not always. I faced a dilemma. I had no way of knowing what my genome would reveal – a preventable disease, a non-preventable disease, or nothing at all. Would I still enjoy my younger years if I knew I would eventually develop a devastating illness? Did I really want to do this?
I walked to the mailbox and dropped my package inside. In a few weeks, my genome sequencing results would arrive. I would learn what the future held for me.
*When children with a rare disease remain undiagnosed after doctors have tried every plausible medical test, and then undergo genome sequencing, a disease-causing mutation is found in around 40% of them.