Quarantine Watching: “The Gene” Part 2

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The second and final part of Ken Burns’ documentary, The Gene, has now aired and is available to view for free on the PBS website (until May 12). I previously offered some commentary on part 1, objecting to the scientism on display by some of the people interviewed. Part 2 was primarily about the mapping of the human genome, and so our very own Francis Collins is one of the central characters of the story. As you might expect, I’ll be more generous with praise in this one!

Mapping the Human Genome

The mapping of the human genome is a fascinating story, and it has not yet been widely recognized for its importance as one of the greatest intellectual achievements in human history. Perhaps the problem is that the technology has become so commonplace so quickly. DNA testing is now fast, cheap, and has many applications: forensic crime, disease risk, fossil identification, and more. The first human genome cost two and half billion dollars and took 13 years to sequence. Now it can be done in less than 24 hours and costs under $1000. It will only be a few more years until all of us have our genomes sequenced as part of routine medical care for about $100.

This rapid development and use of the technology was not even on the radar when the project began. It took a week to sequence just a few hundred letters of DNA in the late 1970s. That rate would have to increase to more than 1000 letters per minute to read out the more than 3 billion letters in our genome in five years of around-the-clock sequencing. And there was significant opposition to the project from the scientific community, because people feared it would drain resources for a project that would prove either to be impossible, or not all that interesting. What they didn’t understand, was that like the Apollo moon project, the technology developed to accomplish the goal itself would have endless other applications and make a huge impact on our culture.

When James Watson pitched the project initially, he told Congress that it would take 15 years. This part didn’t make the documentary, but in our first podcast episode with Francis Collins, he told us that the rest of the research community scratched their heads and wondered where that number came from. And Watson responded that if he made it any longer, Congress wouldn’t fund it; and if it were any shorter, they probably didn’t have a very good chance of being successful. So it was an entirely pragmatic guess.

a machine pipetter

Part of what makes this a compelling story is that besides the government effort, another private group led by Craig Venter started working on the project too. He hoped to patent DNA sequences and sell them to private companies and let capitalism incentivize the research. That created conflict with the government group led by Collins who believed the information should be open to all researchers. There was a stretch of bad blood between these two groups until Collins and Venter met privately in a third party’s basement and sorted out a way forward.

On June 26, 2000, Venter and Collins flanked President Clinton in the East Room of the White House for the announcement of completion of the mapping of the human genome. That announcement can be seen in full on YouTube, and at about four-and-a-half minutes in, you can hear President Clinton saying, “Today we are learning the language in which God created life.” The Language of God—there’s a nice ring to that phrase!

Reflecting on this achievement in the documentary, Francis Collins said:

“It is profound to be able to see your own instruction book and that of all of the rest of humanity laid out in front of you, and to realize that never was possible until now, in the whole sweep of human history and pre-human history, every living thing on this planet has been driven by this kind of DNA instruction book, and yet we have known almost nothing; and now we do.”

One of the most surprising facts uncovered in the process was just how few genes we humans actually have. There was a contest among the researchers to guess how many genes would be uncovered. Each wrote down their name and a number (and put some money in a jar!). Every one of these specialists in the field guessed too high. In Ken Burns fashion, they pan and zoom over the sheet with the names and guesses.

still from The Gene of names with their guesses of how many genes were in a human genome

I could make out 40 of these entries, which ranged from 27,462 (by Paul Dear), up to 153,478 (by Sam LaBune). Francis Collins guessed 48,011 which put him well under the average guess of over 67,000. It turns out we have only about 20,000 genes total, which is less than an onion. Francis comments again, “Shocking! Shocking! How could that possibly work? How could we, as complicated and fancy as we are, be driven by such a short list of recipes?”

The Path to CRISPR

How these gene “recipes” control our development has proven to be more complicated than expected. Most common diseases are not caused by a simple mutation at one place on our genome, but seem to be caused by defects or abnormalities across many genes. So the identification of genetic causes proceeds slowly by examining populations of people with the same disease, and seeing what genetic abnormalities they have in common. One study of more than 10,000 people with schizophrenia identified more than 100 sites on the genome that appear to be associated with higher risks.

Then the next challenge is how to treat these diseases with genetics. When there is a defective gene from the DNA you inherited from your parents, it is in every cell in your body. How can you fix all of those? Viruses are especially well-suited to target stretches of DNA, but in 1999 an initial attempt at gene therapy through viruses ended tragically, when the patient (Jesse Gelsinger) died as a result of the procedure. The virus particles injected into him triggered a massive reaction from his own immune system. It was subsequently revealed that the procedure had not been properly tested and reviewed. Perhaps this should be a warning to our current rush to get effective treatments for COVID-19. Francis reflected on Jesse’s treatment:

“Human biology should never be underestimated for its complexity. The systems that have been shaped by evolution over these hundreds of millions of years are very well designed to tackle something that is unexpected, coming from the outside. Gene therapy is one of those things coming from the outside that is unexpected. And all of those mechanisms that are protecting us human organisms against bad things that are all around us, are going to kick in. They are why we’re here. They keep us going. And sometimes when we might not want them to act, they are going to anyway. That’s what happened with Jesse.”

But then CRISPR technology was developed, which allows for a safe way to identify a specific section of DNA and edit it. This has been used for incredibly effective treatments for Sickle Cell Disease, and looks promising for other genetic diseases too, which have been identified. This brings us back to the beginning of Part One of the documentary and the human embryos that were edited using CRISPR. What does the future hold for applications of this technology? How far is too far?

Perhaps here too, we find a lesson for us in our own days, when sacrifices are called for that will benefit the common good and protect the least of these. We did not become what we are today by survival of the fittest alone. We became what we are by the fittest looking out for those who were less fortunate.

Jim Stump

Ethical Concerns

There are easy, simplistic formulas that say, “only use it for therapy, not enhancement of the human,” and “only treat somatic cells that will affect an individual, not the germline that will be passed on to future generations.” But as I’ve discussed before, the line between therapy and enhancement can be very blurry. And if we have the ability to fix defects in our germline and thereby spare future generations, shouldn’t we do that?

These are hard questions, and they lead to even harder questions about whether certain abnormalities should be understood as defects in our species. In the documentary, dwarfism was discussed as one of these difficult questions. There is a culture that has developed around dwarfism and members of that culture are not happy about the prospect of their being “fixed” out of existence. I used to be in close contact with the Deaf community, who would say the same about their culture. Who gets to decide whether individuals with these “defects” are allowed to live? In Iceland, they’ve already decided that individuals with Down Syndrome should not.

I’ve often wondered about the effect of disabled people on us as a whole. Of course we should work to relieve suffering wherever we can, but perhaps there is good that comes from some suffering we can’t get any other way. Are we better as a species because there are people who need extra care or provisions? What do we lose if there are no “least of these” among us? Our species’ evolution was dramatically influenced by cooperation, and even by altruism—instances where individuals who had more resources helped to provide for those who had less. That part of our evolutionary story has not been told well enough. I recently read (I can’t remember where… someone please let me know if you recognize this) that our species truly became human when we started providing for the injured or disabled who could not provide for themselves. There is clear fossil evidence of individuals with debilitating injuries who were kept alive for years at no small expense to their communities.

Perhaps here too, we find a lesson for us in our own days, when sacrifices are called for that will benefit the common good and protect the least of these. We did not become what we are today by survival of the fittest alone. We became what we are by the fittest looking out for those who were less fortunate.

I don’t pretend that evolutionary science can answer the ethical conundrums of our day. We need wisdom that science cannot give us on its own. We people of faith are guided by certain values, but the application of these values is not always straightforward, and there will be disagreements among us. That does not absolve us of the responsibility to work toward answers and solutions with each other.

The documentary ends with Siddhartha Mukherjee, the author of the book on which the film is based, saying:

“The human genome is the most human thing we possess. And this generation will have the responsibility for the stewardship of it. They will make deliberations about whether or not to make changes in it, whether or not to predict futures from it. This generation has the responsibility to protect and to understand and to intervene on the most human thing that we possess in common. It is an awesome responsibility.”

An absolute necessity for taking responsibility is making oneself aware of the issues. Watching this documentary is a good first step toward that.

Jim Stump
About the Author

Jim Stump

Jim Stump is Vice President of Programs at BioLogos. He oversees the editorial team, participates in strategic planning, and hosts the podcast, Language of God. Jim also writes and speaks on behalf of BioLogos. He has a PhD in philosophy and was formerly a professor and academic administrator. His books include, Four Views on Creation, Evolution, and Intelligent Design; Science and Christianity: An Introduction to the Issues; How I Changed My Mind about Evolution; and The Blackwell Companion to Science and Christianity. You can email Jim Stump at james.stump@biologos.org or follow him on Twitter.  
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