Our creation story is worth retelling

Christmas is a time of year when familiar stories are shared. These are tales we’ve memorized, recited and passed along. When my children were young, we kept a special box of Christmas books. Stories included W. G. Van de Hulst’s The Search for Christmas and A Christmas Carol by Charles Dickens.

Perhaps there’s a familiar story in your own Christmas traditions. In popular American culture, many recognize the opening line, “’Twas the night before Christmas,” from Clement Clarke Moore’s “A Visit from St. Nicholas”. Classic literature fans might recall one of my favourites, O. Henry’s The Gift of the Magi, which begins, “One dollar and eighty-seven cents. That was all.” And the words from Luke 2, best read by Linus from Charlie Brown: “And there were in the same country shepherds abiding in the field, keeping watch over their flock by night.”

The story in our cells

Last month, I took an online course on genomics and patient advocacy. The first week, we learned how our body’s story is inscribed and retold in the language of our cells. Here’s the short science lesson: The human genome is made up of over three billion chemical building blocks, known together as DNA (deoxyribonucleic acid). Nearly all of these blocks are identical from person to person. The remaining tiny bit of differences make each of us unique.

To study the genome, scientists must first “sequence” it by determining the exact order of the billions of DNA letters. This process is called whole genome sequencing (WGS). Almost every cell in our body contains a complete copy of our entire sequenced genome, like a story that is told over and over.

Meaningful mosaic

During the course, several thoughts stood out to me. First, there is intentional design in who we are and beauty in these patterns. I say this carefully, knowing that some genetic conditions carry painful and complex stories; living with a rare or fatal disease cannot be easily explained.
Second, learning about the reference genome – a DNA sequence that represents a “typical” human genome – reminded me of the limits of what we’ve called “normal.” Since the first genome was sequenced in 2001, there is a growing understanding of the need for more data and more diverse representation. Much of what we’ve measured so far has been based on samples from people of European ancestry.

Tell the whole story

If our current reference doesn’t fully represent all people, then some genetic differences may be just that – differences, not defects. Has this limited understanding of the human genome story created a deficit-based lens through which we view differences as children develop? I also wonder about racial bias and equity in care. If we better understand and tell the story held within our own cells, perhaps there will be more understanding and acceptance in health care – for all.

“Fear not: for, behold, I bring you good tidings of great joy [a story worth retelling!], which shall be to all people” (Luke 2:10).