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.

Another anomaly on chromosome 16 was found to be associated statistically with autism, the condition in which children display difficulty in forming relationships with other people, suffer from compulsively repetitive behavior, demonstrate a narrow range of interests, and (not in every case) experience low intelligence. But the same anomaly has also been found in children of low intelligence and a propensity to obesity, as well as an early propensity to obesity without low intelligence, or no abnormality at all. In other words, it is difficult to say at the moment what this finding actually means. The cliché that further research is required applies here: one of the reasons that clichés are clichés being that they are obviously true.

The alert lawyer with an interest in tort will have spotted an opportunity in all this (heaven forbid that I should give him any ideas!). If certain genetic anomalies are strongly connected, statistically or otherwise, with defects of intelligence or conduct, how long can it be before doctors are blamed for the wrongful birth of those born with the genetic defects of intelligence or behavior that are so connected? If I know lawyers, not very long; they will promote “wrongful birth” as a legal specialty it itself; and so the predominant tendency of our time, the diversion of money from the pockets of the productive into the pockets of the unproductive, will receive yet a further impetus.



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