We are all uniquely written (not like a set of encyclopedias)

PGD biopsy with encyclopedia image overlay

In 2008, I attended the American Congress of Obstetricians & Gynecologists (ACOG) annual convention where the keynote address compared our genetic code to a set of encyclopedias. Here’s how newer genetic testing is rewriting this metaphor for who we are.

ACOG began its Annual Clinical Meeting with Dr. Mark Hughes and his talk, “The Brave New World of Reproductive Genetics: Biotechnology Again Meets Bioethics.” Dr. Hughes is a pioneer of PGD, preimplantation genetic diagnosis. By his talk’s title, Dr. Hughes was to discuss the bioethics of this technology.

Dr. Hughes began by using an analogy to explain the human genetic code. He likened it to an encyclopedia set, where each chromosome was a volume, and each gene was a paragraph or a page in each volume. He explained that for some genetic conditions, sometimes a page or paragraph is removed, flipped upside down, or appears in some other way. PGD, Dr. Hughes touted, allows parents concerned about passing on a genetic condition to their offspring the chance to avoid–in his words–“rolling the genetic dice” by  reproducing the old-fashioned way. Instead, the mother’s eggs can be harvested, fertilized with the father’s sperm, the embryo divides to the 8-cell stage, a cell is removed, the genes for that embryo mapped, and then those embryos that do not have a misprinting of their encyclopedia volumes can be implanted–thereby guaranteeing the genetic condition is not passed on. Or, that’s how Dr. Hughes presented it at ACOG (and does so in this on-line interview, here).

Something about the talk has always bothered me.

Never mind that ACOG chose as its keynoter on the bioethics of genetic technologies the physician who developed the technology and has established a private institute from which he profits by patients electing to have PGD done–hardly an unbiased presenter. Never mind that his institute is called “Genesis Genetics,” suggesting it is at the very beginning of life, when, in fact, the cell is removed from the embryo after at least its fourth iteration (1-the fertilized cell; 2-2 cells; 3-4 cells; 4-8 cells, when the biopsy is performed); it would be more accurate, then, to call the institute “Numbers Genetics” (after the 4th book of the Bible, not the first). And, never mind that the audience of obstetric professionals applauded approvingly when he talked about selecting embryos for implantation as a matter of beneficence, while ignoring that there are several other embryos not selected and destroyed.

No, it was the example that genetic conditions are likened to misprinted sets of encyclopedias and occur by Dr. Hughes’ derisive phrasing of parents “rolling the genetic dice.”

By suggesting that any genetic condition is an error, a misprint, the result of something wrong in the creation of the set of encyclopedias, it suggests that the rest of us enjoy some standard set of correctly-printed encyclopedias. It is normative: it proposes that there is a standard set of correctly written volumes and any difference is an error, a disease, something that is the result of reckless parents playing dice with their children’s genetic make-up.  The newest form of prenatal testing reveals how incorrect this view is.

It’s ironic that Dr. Hughes titled his talk “The Brave New World of Reproductive Genetics” to suggest that PGD can screen out those misprinted encyclopedias. The newest biotechnology that received much of the focus at this year’s medical genetics conferences is micro-array testing. This form of testing does not identify just the dozens or hundreds of genetic conditions of traditional genetic testing. It detects thousands of genetic conditions–most of which no one knows what they mean. This is because it identifies micro-deletions, balanced translocations, and other conditions that have yet to be identified and what they cause is unknown.

What micro-array testing is also revealing is that there is no such thing as a standard set of correctly-printed encyclopedias when it comes to our genetic make-up. Every single one of us has a sentence misspelled, a paragraph pasted out-of-order, or a whole page moved in our volumes of Dr. Hughes’ encyclopedias. And, this is true of those embryos that even PGD screens for certain known genetic conditions.

Don Miller, in his book A Million Miles in a Thousand Years, writes about the structure of story as a way of living one’s life. Miller says he “feels written,” as though his life was written. Perhaps that is too metaphysical. But, it’s something that everyone believes.

Everyone believes they are unique. That they have their own story to live and to tell. And, that we’re not some set of encyclopedias, all the same, shipped from a factory. And, I don’t think any of us would want life to be that way.

But, if Dr. Hughes’ analogies were followed to their logical end, isn’t that what PGD and other biotechnologies promise to do? To select out what those doing the selecting label as a misprint, a deviation from what they set as the standard? These bioethical issues still need to be addressed in this Brave New World of Reproductive Genetics.

Two postscripts:

The year after Dr. Hughes’ remarks, ACOG issued a committee opinion to emphasize that preimplantation genetic screening had not been shown reliable enough for diagnosing aneuploidies, like Down syndrome.

Last year, Genesis Genetics and Dr. Hughes were on the losing end of a trial verdict in the amount of $13+ million for the lab’s failure to detect cystic fibrosis in an embryo that it had screened as clear of that condition. The judge ruled that liability was established based on Dr. Hughes’ deposition testimony.