Human Genome Project: Big Deal or Big Hype?

by Bill Cutrer, M.D., and Sandra Glahn, Th.M.

It’s been in the news for more than a year now–the ability to sequence the human genome. What does it mean? Is this bad news or good?

An MD/PhD posting his comments online wrote this: “These are just sequences, folks. Even after we identify the proteins they encode, it may take thousands of years to figure out what the proteins do, how they interact with each other, and how they relate to health. Imagine this: somebody gives you all the words in Heller’s Catch 22—in alphabetical order. How far is that from putting together the book? Multiply it by a million. This is where we are now. In all likelihood, it will result only in very gradual changes, over thousands of years.” In short: No big deal.

Contrast that with the big press conference on June 26, 2001, with President Clinton, British Prime Minister Blair, and both of the key scientists. We heard statements such as, “Understanding the human genome will revolutionize the practice of medicine….” Francis Collins, a professing Christian who heads the International Human Genome Project, said on national TV, “We have caught the first glimpses of our instruction book, previously known only to God.” In short: It is a big deal.

So who’s right? Big deal or Big hype? Is this something to get excited about, or worried over? What are the legal, ethical, and social implications?

Look at it this way. Picture a deck of cards—a really big deck. This deck has roughly 3.2 billion cards. What the joint work of the U.S. government’s National Human Genome Research Institute (public) and Celera Genomics (private) has accomplished is figuring out, in simple terms, what “card” is in position in the deck. Their approaches, though different, focused on discerning what gene or “card” was in each place.

The ethical principles of beneficence, non-maleficence, justice and autonomy were all upheld in the process—no life loss, no harm done, and enormous potential for good. (That is not to say the potential for evil is not there, but as far as we know, the research has upheld ethical principles.)

The announcement means we’ve learned nearly the entire sequence of the cards. Yet we can identify the function in only a tiny percentage of them. We know their chemical sequences, but not their what they do. By comparing sequences with individuals who have known genetic disorders, we already know some of the sites, and we can now discover others fairly quickly. The potential for medical advancement is staggering—truly great news.

In addition, the impact of this discovery is amazing in another way. It affirms our remarkable complexity as humans, and it also affirms our great similarity as a community of persons.

Creation or Evolution?

Some have noted how closely our genome matches that of chimpanzees and other organisms. Their opinions about this have much to do with what perspectives they bring. Celera’s President uses words such as “evolution” to describe what he’s found; Collins uses “God.” All earth creatures have the same basic raw materials, yet we make up a wide variety of living organisms. The biblical account says that the “earth brought forth” the plant and animal life, so we should expect our “building blocks” to be similar because mankind, created in God’s own image, was uniquely created from—right—dust! God formed us from the basic elements of creation: Carbon, hydrogen, oxygen and nitrogen. And then he “breathed” life. (See Gen. 2:7.)

When our friends who read evolution into this discovery say, “Humans are 99.9 percent the same as the chimp,” consider that .1 percent of 3.2 billion pairs of nucleotides is still a difference of more than three million. And there are apparently only about 300,000 differences between persons. We’re reminded of the children’s game in which students “spot the differences” between pictures. One guy may have an extra button in the “what’s different” picture; or perhaps a girl has a long sleeve on one arm. Well, in Genomics, between the one frame (chimp) and the other frame (human), the student would have to identify 3.2 million differences. So while in percentage it doesn’t look like much, in actuality it would take a bright child more than ten years to identify the differences. In fact, it took our team of scientists more than a decade just to put the stack in order.

How Revolutionary?

So, we have the sequence, and we know which “card” fits where, but we don’t yet know what many of these cards do. That means our online doc is right—this generation will likely not live to see each gene sequence diagnosed or “repaired.” Yet those describing this accomplishment in grand terms are also right. Understanding the building blocks and the ability to impact the 5,000 known genetic diseases is incredibly exciting and likely will change many lives in the next three to five years. We could very well see some “risky” genes identified such as for cancers, early heart attack, or diabetes.

How, then, should we respond to the public announcement of the sequencing of the human genome?

Grapple with the suggestion that such an incredible number of precise combinations could have been the result of chance and time.

Praise God that we have been—in this generation—permitted a glimpse into a yet smaller frame of our construction. The more we discover, the more we can stand in awe of our complexity.

Marvel that we are “fearfully and wonderfully made” (Psa. 139: 14) from a template of merely four basic blocks mixed more than three billion times.

That’s the “up” side. Next time we’ll consider the cautions…