Genomic Medicine: A Great Leap Forward?
Genomic medicine has not yet fulfilled the high hopes placed in it, but it is not uncommon in the history of medicine for knowledge to be in advance of its therapeutic application. For example, it was hundreds of years before Harvey’s discovery of the circulation of the blood benefited patients directly; and scientists were driven by the belief that the truth will set us free.
An article in the New England Journal of Medicine for February 23 reviews the current state of knowledge of the genetics of mental handicap and autism, with brief mention of schizophrenia and epilepsy in the bargain. Considering the history of this subject, ethical considerations are conspicuous by their absence from this article. After all, the premature assumption of knowledge of the genetics of mental handicap, mental illness, and epilepsy was one of the major ingredients of the Nazi program to kill 100,000 patients (as being “unworthy of life”) in German mental hospitals: a program that, as we now know, was a rehearsal for the Holocaust.
But one cannot prohibit the attempt to obtain new knowledge because the false assumption of knowledge about it in the past was used unethically. Even if he who does not remember the past is not absolutely condemned to repeat it, he is probably more likely to do so.
Nevertheless, an astonishing amount has been learned in recent years, and the pace is accelerating. This is a field in which the Promethean bargain is coming to fruition. But it is still necessary to remain cautious.
Some genetic anomalies are more closely tied to clinical outcomes than others. For example, certain anomalies on chromosomes 15 and 17 have never been observed in normal people; everyone who has either of these anomalies has mental disability, facial deformations, reduced muscle tone, and other abnormalities.
But there are some genetic anomalies that do not have so close a relation with clinical conditions. For example, an anomaly on chromosome 1 had been found to be statistically associated with mental disability, cataracts, and congenital heart disease, but the parents of such children may themselves have the anomaly without the clinical abnormalities.






Funny how a moral case can be made to let God or nature dictate outcomes, yet statistical certainty is purely a matter opinion. For example if you drive long enough, you must eventually crash and die. So anyone who swears off genetic screening probably shouldn’t get in a car.
Then there are unnerving scriptures that seem to forebode God’s wrath for messing with Adam’s genes. The Book of Enoch describes “angels” mating with humans, creating hybrids like Goliath the giant.
God wasn’t happy with that. In fact he got quite angry about it.
“Ingredient”?
Not if you mean that in a causitive sense, Doctor.
This pretense to science was merely a convenient whitewash for a set of beliefs that were entirely moral in nature. Science, even misunderstood science, had nothing to do with it.
That’s one of several reasons why I think this essay is a bit of a jumble. The internal logic is far from consistent. One point does not lead to the next. The conclusion reaches no resolution, but neither does it invite us to objectively consider the salient points…where a point can be found.
It’s as if the article were written totally off the cuff or w/o regard to the intelligence and education of the readers.
In more than one sense, the author has actually insulted PJ’s readership.
The article is a bit of a jumble, there, doc. You might want to address the issue *after* you’ve budgeted the time to do it properly. Is the thesis: ‘Politics is evil’ or is it ‘genomics is evil’ or is it ‘humans can use good things for evil’…
I don’t think you’d have gotten away with such a disjointed esay in that medical school – or even the pre-med – you once attended…
Let’s talk doc. I’m a geneticist and use these tests al the time. None of us would drream of predicting outcome based on Copy Number Variants alone. Drop me a line and I’ll clue you in. The NEJM article was all facts with no discussion of the day to day use of the tests(Space too limited for that). BTW, I was one of the authors of an article in NEJM in todays issue.
‘None of us would dream of predicting outcome…’
He was talking about the lawyers. Get a clue.
‘The cliché that further research is required applies here…’
I guess you missed that part in all your condescension.
I am aware of one aspect of genomic studies and their use in medicine, based on what my colleagues who were in medicine (I was not, but involved in data analysis). This work was in determining the best treatment for particular cancers. At the present, three patients can present as nearly identical in all ways (physical, medical history, age, ethnic background, lifestyle, etc.) and also with the identical stage and grade of cancer. If all receive identical treatment, one may benefit greatly, the second not at all, and the third with a severe negative reaction, possibly fatal. There is good reason to believe that genetic studies of patients can better guide treatments. My point is simply that there are many potentially beneficial uses for genomic studies in medicine which have nothing to do with or are suggestive of eugenics.
Real-time epigenomic monitoring — that’s the thing, impossible though it now is.
I would rather know what my genes are doing in real time, rather than irrelevant details of my genetic complement as a whole.
@ the Author: Unintended Title Irony much? Might want to give that a look-see, unless it’s intentional.
I think equally pressing and with similar ethical issues is the idea of humans becoming virtual androids. For example, a simple thing like having Google projected onto your glasses or retinas…. people who can afford that gear (or are secretly using it already) will have a huge competitive advantage in their ability to do anything. It could become a “right” to have equal access to such technology.