THE PEDIATRICIAN AND THE SPECIES: SOME IMPLICATIONS OF OUR ACHIEVEMENTS

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(Received August 24; revision accepted for publication October 13, 1970.)

o This paper is the 1970 Jacobson Lecture of the University of Newastle-upon-Tyne, England, and was sponsored by the Department of Child Health.

CORRESPONDENCE: Child Research Center, 660 Frederick Street, Detroit, Michigan 48202.

PEDIATRICS, Vol. 47, No. 2, February’ 1971

PEDIATRIC

PERCEPTIONS

THE

PEDIATRICIAN

AND

THE

SPECIES:

SOME

IMPLICATIONS

OF

OUR

ACHIEVEMENTS

Wolf W. Zuelzer, M.D.

From the Child Research Center of Michigan Children’s Hospital of Michigan, and Wayne State University School of Medicine, Detroit, Michigan

T

AM deeply grateful to Dean Smart,

Professor Court, Dr. Walker, and the

other members of the Department of Child

Health for the honor of this invitation,0 but I

cannot help wondering whether I would

have had the courage to accept it if I had

known beforehand what the Jacobson

Lec-ture entails. It is one thing to address a

gathering of professional colleagues on

some innocuous subject of a strictly techni-cal nature, but an altogether different thing

to face members of every faculty of this

University with a talk supposed to be of

general interest. The physician is rarely

called upon to leave the comfortable

re-gions of shop talk for the wide open spaces

of public debate, nor, broadly speaking, is

he eager to venture into such dangerous

territory where he might be blown about by

the winds of controversy.

PROFESSIONAL INSULARITY

The reasons for this reticence are not

hard to find. For one thing, we don’t like

being contradicted, least of all by laymen.

Regrettably, the aura of mystery which

from time immemorial has served us as a

protective cloak has been dispelled by an

enlightened public, and our social prestige

has suffered somewhat from the levelling

forces of the democratic age. Still, the doc-tor remains the arbiter of life and death and as such speaks with the voice of authority.

His experience at the bedside and in his

office conditions him to expect

acquies-cence, and he is prone to transfer this

ex-pectation from his patients to the public at

large and to be surprised and hurt when it

is disappointed.

He is in any case a busy man with weighty matters on his mind and little time to think about issues that lie beyond his

im-mediate competence. To an extent this has

always been true, but in recent years the

situation has worsened immeasurably. The

output of the medical schools in most coun-tries has failed to keep pace with the popu-lation explosion. In the United States alone,

according to a recent estimate by the

De-partment of Health, Education and

Wel-fare, there is a shortage of 50,000

physi-cians. Not only the case load has increased,

however, but many services that were

un-known to earlier generations are now

de-manded as a matter of course. Whether he

is a general practitioner or a specialist, an investigator, teacher, or administrator, the

doctor is almost always under pressure, a

man with his finger in the dyke, and God

help him if he combines three or four

func-tions in one person, as most of us in

aca-demic medicine nolens

volens

attempt to

do. The most humane of the professions has

little leisure for the humanities.

The exponential growth of factual

knowl-edge and the parallel increase in

method-ologic complexity with which we must

somehow cope furnish another splendid

ex-cuse for our intellectual isolationism, for,

paradoxically enough, the uncontrolled

proliferation of data is more apt to narrow

our horizons than to widen them. So

enor-mous is the literature to be followed and

the mass of technical details to be critically sifted and mastered by the hapless

investi-gator that the area of his competence is

shrinking steadily. Even to his next-door

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virus or studying a different enzyme in the

laboratory across the hail he is becoming a

stranger, to be regarded with ill concealed

suspicion across a fence of mutual

igno-rance. And the fences are growing taller

and more forbidding with every passing

year and with every new development.

Small wonder then, if our communications with the outside world are unsatisfactory: we hardly understand one another’s

lan-guage within the compound.

Nor is this all. We are well on our way to becoming not only inarticulate but

illiter-ate. Reading even our own specialty

jour-nals from cover to cover has become a

lux-urv comparable to eating a seven-course

dinner in the best Victorian tradition.

In-stead, we live on snacks: we skim through

the pages of Current Contents and send for

the reprints of the more promising titles,

which will eventually disappear in our

col-lection, more often than not unread. In the

place of erudition we rely on a good filing system.

This state of affairs has its inception in the inevitable rigors of medical education, at least in the United States, where even the college years of the future physician,

al-ready segregated from his fellow students

under the label of “premed,” are devoted to

the acquisition of technical knowledge at

the expense of the liberal arts, and where

attempts to humanize the curriculum are

only in their beginnings. The problem is not new. At a time when Aristotelian logic com-prised the essentials of a liberal education,

the emperor Frederic II, founder of the

University of Naples and patron of the

an-cient Medical School of Salerno, showed his

awareness of it by writing in the Liber

Au-gustalis, “Since the science of healing can

never be understood without prior

knowl-edge of logic, we command that no one shall study medicine without having

con-ducted the study of logic for a minimum of

3 years.” In some respects our progress

since the 13th century has not been as great as we would like to think.

Once in medical school, the modern

stu-dent is kept so busy learning facts that he

doesn’t even have time for rioting-but

nei-ther has he much time to think about the

society to which he is about to dedicate his

services. Nor, I might add, does he have

much incentive to do so. His own future is

as good as assured from the moment when

the admissions committee gives him the

nod. The need for physicians being what it

is, he will not be dropped from his class

un-less he commits some unspeakable crime.

His income will be adequate under any

po-litical system, his social position will be

re-spectable, the levelling process

notwith-standing, and his work will be interesting

and satisfying. His mission in life seems

perfectly clear to him : the alleviation of

suffering, the correction of organic

malfunc-tion, the prevention of disease and the

prolongation of life, in short the

Hippo-cratic ideals. All he needs to achieve his goal

is a thorough grounding in the basic

sci-ences, the perfectioning of his diagnostic and therapeutic skills, a tolerable appear-ance, a balanced personality and, hopefully,

a modicum of compassion. Imbued with the

knowledge that his is a noble calling, sure

of his social values, untroubled by moral

uncertainties, he is secure in an insecure world.

THE RELUCTANT REVOLUTIONARIES

This is all to the good-we like our

doc-tors to be pillars of strength-but it may no

longer be quite enough. For, unwittingly or

otherwise, this young conservative will

presently become a leading participant in

what threatens to develop into the most

radical movement in the annals of mankind,

to wit, the biologic revolution, an event

whose magnitude has been compared to the

discovery of fire and the invention of the

wheel or the printing press, but which may

well come to rank with even more

funda-mental evolutionary occurrences, such as

the acquisition of upright posture and the

prehensile thumb. In the wake of this revo-lution, moral, social, and practical issues have arisen-and will continue to arise-for which the blend of technological optimism

and traditional humanitarianism that is his

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progress in biomedical research is not an

unmixed

blessing, any more than it has

proved in atomic physics, in electronics, or

in chemistry. The means of remaking the

human race through medical practices,

public health measures, and biomedical

en-gineering are partly in our grasp already or

will be put at our disposal in a terrifyingly short time, if we are to believe not only the

science fiction writers but some of the

world’s most eminent scientists. The

physi-cian’s ever-increasing power over life and

death thus entails a whole set of new and

awesome responsibilities, to his individual patients as well as to the entire species. The

decisions he will be called upon to make

will require great moral courage and all’the

wisdom with which the educational process

can endow him.

I am not so bold as to suggest the specific

innovations in the curriculum that might

enhance the development of these qualities.

nor so naive as to believe that the

chal-lenges of the biologic revolution can be met

by improvements in education alone,

espe-cially since there is a limit to the amount of

time available for the instruction of the

medical students, and I have yet to meet

the professor who is willing to sacrifice the certainties of anatomy, physiology, and bio-chemistry for the vague promise of wisdom.

Society as a whole will have to come to

grips with the issues arising from our ability to prolong life, to transplant organs, to con-trol fertility, to alter sex, to preserve the unfit, to manipulate behavior through

phar-macological or surgical means, or indeed to

tamper directly with genetic make-up of

the individual or the species.

But society needs guidance from experts

who are not only competent in their own

field but capable of evaluating the impact

of biomedical discoveries on the fabric of

human life and, above all, capable of

com-municating their knowledge and their ideas

to the public. Already these problems are

being discussed

by

laymen in ways that

be-tray both fear of progress and distrust of

the medical profession. Books such as

The

Biological

Time

Bomb

by G. R. Taylor,

plays drawing capacity audiences, such as

Gamma Rays-Marigold in New York and

The

National

Health

in London, television

shows, magazine articles, and newspaper

headlines indicate the extent of concern. A

few prominent geneticists have issued

warnings, often cast in language too

techni-cal for the general public, tempered by the

realization that the clock cannot be turned back, and further limited in their

effective-ness because they deal with seemingly

remote and abstruse aspects of human

re-production. One brilliant young molecular

biologist. leading member of the Harvard

team that just succeeded in isolating the

first pure gene, the so-called lac operon, Dr.

J.Shapiro, a man clearly marked for the

Nobel Prize, has gone so far as to abandon

his research career, reputedly terrified b

the implications of his discovery, and to en-ter politics-scarcely a less formidable field. to be sure.

The medical profession. liv contrast, has

on the whole remained strangely

tongue-tied. Perhaps this is the result of a long

tra-dition of close-mouthedness or of talking in

Latin, so the public wouldn’t understand,

perhaps it is lack of concern or the fear of

opening Pandora’s box, but most likely it

reflects a genuine perplexity. But our

in-ability to provide answers must not stop us

from asking questions, and I for one believe

that the time and place where we should

begin to ask them is in medical school, or I

should say in the university of which the

medical school must again become an

inte-gral part, that is to say in the context of our

total academic culture. If we are to avert a

truly catastrophic alienation between the

medical profession and the rest of the com-munity, there must be a genuine

dialogue-to use the term currently in vogue-and

there is no better time to begin it than the

formative years and no better setting in

which to develop breadth of vision,

recep-tivity to new ideas, and intellectual humil-ity than the academic atmosphere.

THE MIXED BLESSINGS OF PROGRESS

Of the three major effects of the biologi-cal revolution that are already with us, two

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quantitative phenomenon known as the population explosion, resulting chiefly from

the prevention or control of common highly

lethal infections such as tropical malaria. The ensuing reduction in infant mortality,

permitting large numbers of people

for-nierly doomed to die to reach the reproduc-tive age, has upset a stable equilibrium, for

it was achieved without a simultaneous

re-duction of fertility. The Malthusian and

other consequences of near-geometric

pop-ulation growth in a closed universe are as

obvious as the remedy. No task can be more

urgent than the overcoming of the obstacles

to its application which one might

desig-nate as the three I’s: inertia, ignorance, and inefficiency.

The second effect, the increase in the

mean age of the population, reflecting the

greater life expectancy at all ages, is felt in

the highly developed as well as in the

un-derdeveloped countries. While it creates

obvious social and economic problems, it is

not nearly as menacing to the species as the

first, because reproduction is affected to a

far lesser extent. Reduced infant mortality

is a factor here, too, but improved care at

all age levels plays an ever increasing role.

The risks of child-bearing, once a major

cause of death among women, have been

all but eliminated. Nutrition has improved,

at least in the more prosperous nations.

Many forms of cancer, through early

detec-tion and improved methods of treatment,

are either curable or lend themselves to

prolonged palliation. Death from

cardio-vascular disease can be averted with a

fre-quency that is beginning to tell in the vital statistics, and the astonishingly large need

for renal dialysis machines and kidney

do-nors for transplants shows how many lives,

formerly cut off in their prime, can now be

extended for significant periods of time.

Mozart, who died supposedly from renal

failure, shortly after the completion of the

Magic Flute, would have completed his

Re-quiem and given us unimaginable treasures

if modern methods of diagnosis and

treat-ment had then been available.

On the whole, then, this aspect of

mod-em medicine is a desirable one because it

gives the human being a full life span in

which to unfold his or her creative

poten-tial, to develop and preserve the

relation-ships of love and friendship, to enjoy a

richer existence. And we can hope that the

science of gerontology will find ways to

cope with the physical and mental

handi-caps of the elderly, provided that society

finds ways to integrate them into the

corn-munity instead of shoving them into the

outer darkness of old age homes. But how

far and under what conditions shall we

ex-tend life, now that it is within our power to do so at least for a limited time? It is our

curse that we, instead of Nature, or God, or

Fate, must make the short term decisions. I

shall not raise the thorny issue of euthana-sia here, but is it compassionate to force the hopelessly ill to live a little longer, perhaps as a “vegetable,” perhaps consciously

suffer-ing, most likely in any case to remain

inactive, dependent on drugs, prosthetics,

respirators or drainage tubes, confined to a

hospital or nursing home environment? The

point I wish to make here is not the obvious difficulty of making the decision, but on the

contrary, that perhaps more often than not

no decision is involved, but rather that

measures resulting in the prolongation of

life may be taken automatically,

unthink-ingly, as part of the hospital routine. Every

physician has witnessed cases like that of

the octogenarian who at operation is found

to have hopelessly wide-spread cancer hut

is kept alive for another 6 to 8 weeks or

longer by means of blood transfusions,

in-travenous alimentation and hydration, anti-biotics, and tubes of various description.

Some of you will remember the gruesome

circumstances of General MacArthur’s

ter-minal illness which was prolonged by the

successive removal of a kidney, the spleen, and portions of the intestine. The remarka-ble thing is that I have yet to find a doctor

who is not opposed to being resuscitated on

the Bennett respirator when his time comes.

In the Middle Ages victims of religious

fa-naticism were often granted the mercy of a

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Fic. 1. “The Doctor,” by Sir Luke Fildes.

burned at the stake. Is the credo of the

sci-entific age less merciful? Where do we

draw the line? Must we often prolong the

agony simply because we can?

The third effect of the biological revolu-tion is less obvious than the other two, in

part because we tend to sweep it under the

rug, but it is nonetheless with us, to wit the

preservation of the handicapped and the

ge-netically defective individuals. It is this

as-pect that I, as a pediatrician would like to

discuss in some detail, for the great major-ity of currently identifiable genetic disor-ders, as well as congenital malformations and birth injuries manifest themselves early in life and thus fall into the pediatrician’s province.

BEYOND HIPPOCRATES

I have backed into my proper topic

rather cautiously because it involves so

many taboos within and without the

profes-sion. In the Hippocratic tradition the task

of the physician is unequivocally defined as

the preservation of life at all times and

un-der all circumstances, and for some 2,500

years no one has openly questioned this

creed. Nor can anyone wish to tamper with

it lightly, for the respect for the individual life is a basic tenet of our civilization. But

we must recognize the fact that our

situa-tion is vastly different from that in which

the moral concepts of our ancestors

evolved. Hippocrates lived at a time when

infanticide was still widely practiced as a

means of regulating the size of the

popula-tion and weeding out the unfit. He did not,

in any case, have to worry about such

mat-ters, for natural selection was still operating

quite efficiently, and grossly defective

children could not survive. Man’s ability to

interfere with evolutionary mechanisms was

still extremely limited. The physician’s

re-sponsibility ended at a seemingly fixed,

God-given limit. To put it another way: he

could capitalize on his helplessness. This

great asset persisted until quite recently.

The doctor did what he could-alas,

per-haps more often harm than good in the

prescientific era of medicine-but his main

role was that of compassionate bystander.

The point is nicely illustrated (Fig. 1) in

the famous painting “The Doctor” by Sir

Luke Fildes which, as I discovered to my

delight, was commissioned by Queen

Victo-ria to commemorate the faithful devotion of

a physician, in this case her own physician,

who had been called to Balmoral to attend

the only child of the Queen’s favorite

ser-vant during a serious illness. The patient, I

am happy to report, made a full recovery,

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efforts, if his posture is any indication. Con-trast this posture with the resolute if some-what forbidding face the modern physician

presents to the public as shown in Figure 2.

lt is not that Dr. Denton Cooley and Dr.

Michael DeBakey, the cardiac surgeons,

whose faces appeared on this cover of

Life

Magazine are necessarily less compassionate than their Victorian predecessor; it is simply

that they are more aggressive. They no

longer accept what he would have called the

will of God.

PEDIATRICS-A SUCCESS STORY

The title of this lecture is “The

Pediatri-c-ian and the Species,” and it behooves me

therefore to define the term “pediatrician.” In this country it refers to the specialist in

ehildrens diseases who serves primarily as

a consultant to physicians and is based

en-tirely in hospitals. He obviously serves a

vi-tal function, but the care of the great

ma-jority of children is in the hands of general practitioners. In the United States the pedi-atrician, for better or for worse, has-except

for those serving in teaching

hospitals-given up his consultant status and

devel-oped into a general practitioner for

chil-dren. There is still a sizable segment,

per-haps 30% of the child population that is

cared for by general practitioners in the

usual sense, but the vast majority of fami-lies, especially those belonging to the

mid-dle class, are accustomed to take their

children to the pediatrician as a matter of

course for routine checks, preventive

mea-sures, and treatment of illnesses. The

Amer-ican Academy of Pediatrics, which is the

national organization representing virtually all pediatricians has some 12,000 members,

as compared to about 250 consultant

pedia-tricians in England and Wales. The figures

alone illustrate the difference in function, allowing for the difference in the size of the

population served. \Vhen I decided on the

title of this lecture, I was thinking of the

American pediatrician who obviously exerts

a more direct influence on the general child population than his British colleague, but in

fact I would have done better to use the

term “Pediatrics” instead of “Pediatrician,” meaning the entire field of child health and children’s diseases, regardless of the kind of

training or the exact mode of functioning of

those who perform the services.

Pediatrics, then, is a branch of internal

medicine, developed originally to solve

problems peculiar to infancy and

child-hood, and containing in existence because

it was soon realized that the child is not

simply a small adult, that even the same

illness that may affect an adult is not

the same when it occurs in a child, that

growth and development are the unique

as-pects of childhood which require special

consideration in health and disease. That

the pediatrician with his special knowledge

of these aspects serves a vital purpose and

will always be needed hardly needs saying.

His work is all the more important because the entire life of the individual may be af-fected by factors determined in childhood.

Many tasks are still before us, notably in

the area of neonatology. But we tend to

for-get that Nature has made our entry into the

extra-uterine environment a reasonably effi-cient process, and the vast majority of

new-born infants are, thank the Lord, quite

normal and presumably able to get along

without our help, especially under modern

conditions of prenatal care, and to give the obstetrician his due, vastly improved meth-ods of delivery. It is chiefly the premature infant, the child born to a diabetic mother,

the baby with Rhesus incompatibility, the

product of a difficult delivery and the con-genitally defective infant that requires our attention.

The fact is, however, that pediatrics has

very largely solved its original tasks, to wit the problems of nutrition, diarrheal disease, and infection. The record is quite spectacu-lar. The list of diseases that have been

vir-tually eliminated is almost identical with

the chapter headings of the older textbooks of pediatrics: rickets, scurvy, severe nutri-tional anemia, protein deficiency-except

in the underdeveloped countries where

kwashiorkor is common because of

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congeni-FIG. 2. “Two Cardiac Surgeons.”

(Reproduced h permission of Life Publishing Office, Life Magazine.)

tal syphilis, tuberculous meningitis, tuber-culosis bone disease, diphtheria, whooping cough, scarlet fever and its sequelae, otitis media, mastoiditis and nephritis, tetanus;

then poliomyelitis and more recently even

measles and German measles. Rhesus or

he-molytic disease of the newborn is about to

join the list and can on the whole be treated

quite satisfactorily even now. Meningitis of

the ordinary variety, formerly a uniformly

fatal disease, pneumonia, once a major

cause of infant mortality, erysipelas, and

streptococcal angina are no longer the

threat they were when I began my training.

Figure 3, well known to every pediatrician

and Public Health Officer, shows what has

been accomplished in one generation. We

have very nearly put ourselves out of

busi-ness. The normal child today has an

excel-lent chance of reaching adult life in the

best of health-provided he or she is not

killed or maimed in an automobile accident or the like. The dream of the older genera-tion of pediatricians has come true to an as-tonishing extent and in an astonishingly short time, and we might well be satisfied with our achievement.

ONWARD AND-UPWARD?

But of course, we are not. We are not

content with having assured the rearing of

a strong, vigorous, biologically self

-sup-porting race. As the old problems began to

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Fic. 3. Mortality, pre-school ages, U.S.A. (From The Biologic Basis of Pediatric Practice, R. E. Cooke, Ed., by permission.)

346

it set out to be, namely the principal branch of preventive medicine, the relative

impor-tance of conditions formerly ignored or

be-yond human help began to increase. The

challenge was accepted; in the face of an

already unmanageable population excess

we began to retrieve what was once

consid-ered Nature’s waste, to use a brutally

de-scriptive term. Birth defects and genetic

disorders have become a major concern of

the newer pediatrics. An enormous amount

of research is being devoted to them, and

what one might call a kind of luxury

medi-cine, dealing with the care of such patients,

has come into being. Congenital heart

de-fects have become susceptible to surgical

correction, although two or three or even

more operations may be required, and

many of these children lead rather dreary

lives. Surgical procedures now insure the

survival of children born with congenital obstruction of the esophagus, the intestine,

and the rectum. Hydrocephalus, if

discov-ered early, can be often arrested by compli-cated neurosurgical measures. And so forth.

But we do not know to what extent these

various anatomical defects are genetically

determined and therefore heritable,

be-cause such patients have never before

reached the reproductive age, or in any

event had the opportunity to reproduce.

We are on firmer if perhaps even more

dangerous ground with the metabolic or

biochemical defects known to be

geneti-cally transmitted. Broadly speaking, these

fall into three classes: dominant, recessive,

and sex-linked. An example of dominant

in-heritance is congenital spherocytosis, a

con-dition in which the red corpuscles are

round instead of disk-shaped, and therefore

liable to retention and rapid destruction in

the spleen. Luckily, this condition is not of-ten fatal and can in any case be rendered quite innocuous for the bearer of the abnor-mal gene. More sinister are the implications

of retinoblastoma, a cancer of the eye

which, though not a general metabolic

dis-turbance, is dependent on a single

domi-nant gene and illustrates particularly well

the hazards of the course on which we are

embarked. This cancer appears in early

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if untreated, is fatal in 100% of the cases.

With current medical care perhaps 70% of

the patients survive, albeit blind in one or

both eyes. Neel and Schull, in their book on

Human

Heredity,

have pointed out that if all such patients survived and reproduced

at a normal rate, retinoblastoma would

eventually become the normal characteris-tic and its absence would be the exception depending on back mutation, truly a fright-ening prospect.

A more complex problem is presented by

the recessively inherited abnormalities.

Here the overt, crippling disease depends

on the presence of a pair of genes both

ab-normal with respect to a particular

func-tion, one contributed by each parent. The

parents as carriers of the trait, or

heterozy-gotes, are healthy because the abnormal

gene in them is present in single dose and

balanced by the corresponding normal

gene. Some such genes are extremely

com-mon, such as the so-called thalassemia

gene that extends through a wide

geo-graphic area from the Mediterranean to the

Far East, and the sickle trait that is found

in African, Afro-American, and South

In-dian populations, both associated with red

cell abnormalities. Under natural conditions the possession of these genes in double dose is fatal early in life. Each death thus

repre-sents the loss of two abnormal genes. The

high frequency of a gene that must make

up for such losses from homozygote deaths

must mean that it confers some advantage

for survival on the heterozygote carrier, and

indeed Allison and others have shown

con-vincingly that this advantage, in the case of the sickle trait, consists in a slightly

im-proved chance of surviving the initial

at-tack of tropical malaria, the principal killer of infants in tropical Africa. Because of its geographic distribution a similar relation-ship seems likely for the thalassemia gene.

But with the elimination of malaria the

ad-vantage vanishes, and the further

accumu-lation of such traits as the result of survival

and reproduction of homozygotes would

become wholly undesirable. Fortunately

the reproductive rate of such patients as

now reach adult life is quite low.

But there is another aspect that needs to

be considered. The tragedy that befalls the

family of a child with thalassemia calls

forth both our humanitarian instinct and

our technologic resources. Although even

now few of these patients survive past

ado-lescence, we treat them vigorously and

keep them alive until then by frequent

blood transfusions and supporting

mea-sures. Most of these children undergo

re-moval of their spleen at some point in their

course. Most of them sooner or later

de-velop intolerance to blood group factors,

white corpuscles, or serum proteins, and are

prone to severe and most unpleasant

trans-fusion reactions. Eventually the accumula-tion of iron leads to further disturbances.

Growth is apt to be stunted, cardiac

func-tion is compromised, an active life of play,

sports, and school is precluded.

Realisti-cally speaking, the chances of finding a

cure for this condition are exceedingly

re-mote. Yet we continue our sad routine,

be-cause once having started, we cannot let go.

We have a bear by the tail. How humane,

how wise, how biologically sane are we?

I could extend this list considerably. I

have already mentioned the child with

sickle cell anemia who, in addition to most

of the problems of the patient with

thal-assemia, is subject to frequent severe pain

crises against which we are all but

power-less, and occasionally to convulsions and

paralysis, due to the tendency of the

abnor-mal red corpuscles to become entangled

with one another and obstruct blood

ves-sels. A particularly tragic disease transmit-ted in a recessive manner is cystic fibrosis,

common enough to have caused cystic

fibrosis foundations and associations to

come into being, which in effect act as pres-sure groups not only to stimulate research

but to intensify treatment. Here we are

dealing with a widespread disturbance of

glandular function affecting the pancreas, the respiratory tract, and often the liver,

and leading to impairment of nutrition,

growth failure, and extreme susceptibility to infection of the lung. Survival of these patients to adult life is now becoming fairly

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348 PEDIATRICIAN AND SPECIES

doomed to die in infancy. Fortunately, the

surviving males generally appear to be ster-ile. But they are respiratory cripples lead-ing marginal lives and taxing our resources and the fund of parental love.

Less tragic for the affected individual but

perhaps more dangerous for the species are

those metabolic defects which can be

pre-vented from having deleterious effects b

elimination from the diet of a particular

constituent with which the organism cannot

cope. The best known examples are

phenyl-ketonuria and galactosemia. The elimination of a particular amino acid very early in life

can prevent the harmful effects on the

brains of patients with the former condition

which ordinarily leads to severe mental

re-tardation, while the avoidance of milk

sugar allows the galactosemic patient to es-cape cataract, liver disease, and other dire

consequences of his genetic inability to

handle this substance. Well and good. This

is a triumph of modem biochemistry, the

guarantee of a normal life for the

geneti-cally defective person. But this person will

likely reproduce, and all his children will

carry one of his two abnormal genes. In the

state of Michigan it is now a law that every newborn child must be tested for phenylke-tonuria in order to ascertain this now rare condition-about one in 80,000 births-and doctor and hospital are liable to penalties and, of course, open to lawsuit if they fail

to comply. A multitude of similar genetic

disorders are now being identified, and if

this type of legislation were to spread,

things would get very complicated and

ex-pensive, and undesirable gene frequencies would gradually increase.

A well publicized type of sex-linked

he-redity is hemophilia. This formerly highly

lethal condition can now be quite effectively

treated by administration of a plasma

con-centrate, and even major surgery can be

performed without undue bleeding in such

patients. The time is rapidly approaching

when the crippling joint hemorrhages

which incapacitate these otherwise healthy

males should become preventable by

con-stant prophylaxis. Only minor technical

problems and the short supply of fresh

plasma stand in the way of a program of

this kind. Thus nearly 100% of hemophili-acs can be expected to reach reproductive

age and, being no longer handicapped,

might in fact reproduce at a normal rate.

Here the sex-linked mode of transmission

yields some interesting mathematics.

As-suming normal survival and reproduction,

and disregarding the accumulation of new

mutations, the offspring of a single

hemo-philic male would in five generations

in-elude 16 carrier females and 10 afflicted

males among 1,024 individuals, given four

children per mating. There is at present no

reliable way to detect the carrier female. If,

however, the males were not allowed to

reproduce, the fifth generation would under

the same assumptions contain only two

car-rier females and two afflicted males, even if

the females in each generation were not

prevented from bearing children. There

would, of course, be a smaller total number of descendants, 856 to be exact, but the

per-centage of carriers among the females

would drop from 3% to .4%, nearly a

ten-fold decrease.

I have anticipated one of the possible

ways of solving this kind of problem. But

there is still one more item to be considered in discussing the activities of the

pediatri-cian. I am referring to prematurity. The

normally delivered, moderately

under-weight premature infant presents no serious

difficulties and, properly cared for, can be

expected to develop normally and to

be-come a useful citizen. Nevertheless one

must have some concern over the fact that

an infant weighing less than 5 pounds at

birth has an 80 times greater chance of

ce-rebral palsy than the full-term baby.

Mat-ters become more serious the more

imma-ture the infant is at birth, and the lowest weight group, under 1,000 gm, stands a

bet-ter than even chance of being mentally

re-tarded, if by means of highly sophisticated,

temperature, humidity and

oxygen-con-trolled sterile incubators, intravenous

ad-ministration of fluids, artificial feeding, and

other measures we succeed in keeping it

alive. Here-and perhaps in some of the

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to salvage against Nature’s apparent inten-tions-the danger is not the dysgenic effect

on future generations, but the burden on

the present generation may be more serious

than we can now appreciate. The vigor of a

population already jeopardized by the

stresses of modern life, by increased

den-sity, by the effects of differential fertility,

i.e., more rapid breeding by groups of

lower social and to some extent genetically

determined lower intelligence, by the

haz-ards of radiation and pollution in general;

the vigor of such a population can hardly

be helped by the addition of any significant

number of retarded or otherwise

handi-capped persons, even if these handicaps are

not transmissible. Nor must we forget that

undifferentiated mental retardation is not

by any means restricted to prematurity. On

the contrary, the majority of such children

are apparently quite normal at birth and

quite a long period may elapse before their handicap is recognized, so that these are

in-dividuals for whose care we must

unques-tioningly accept responsibility. But with

re-gard to the smaller premature infants one

cannot escape the question: how much is

enough, how energetic are we supposed to

he, where does or where can one draw the

line?

WHAT IS TO BE DONE?

Needless to say, I do not profess to know

the answers. But, as I indicated in the

be-ginning, I am convinced that we must ask

the questions, not in the carefully protected

privacy of the doctors’ cloak room, not as a

matter between the physician and his God

or his conscience, but in public, as an orga-nized and authorized educational function, as a part of our responsibility. If, as the

the-ologians tell us, God is dead, if we have

usurped his functions and freed ourselves

from evolutionary laws and selective forces

by controlling our environment and taking

our biologic future into our own hands,

then we must also be willing to bear the

burden of the ethical problems of difficult

choices, then we must find a way of

recon-ciling the needs of the individual with those of the species.

The first step in such an undertaking is,

as always in medicine, a correct diagnosis.

My analysis of the situation has been very

sketchy and superficial. We need a great

deal of information, we need solid data on

population genetics, gene frequencies,

mu-tation rates, consanguinity, demography,

and many other factors. The recognition of

the heterozygote state for abnormal

reces-sives has made giant strides in the last dee-ade but is obviously only in its beginnings.

We must also learn more about the

condi-tions and combinations in which certain

genes now considered unfavorable might

become assets. I mentioned the relative

ad-vantage of the sickle and thalassemia genes.

In the age of space and pollution some

de-fects might turn out to be desirable.

Con-versely, we now know that the sickle trait, quite harmless to its carrier under ordinary

circumstances, can be a severe handicap at

high altitudes, where the reduced oxygen

content of the atmosphere leads to

intravas-cular sickling of the red corpuscles and

splenic infarction. Soldiers with this

condi-tion function normal!y on the ground but

must be excluded from parachute exercises.

We also need to know a great deal more

than we do at present about the nature and

the determinants of intelligence and the

in-teraction between genetic and

environmen-tal factors on its development before we

can undertake major corrective procedures.

In a word, we need more research, perhaps

not exactly the kind of research that has

predominated in the last quarter of a

cen-tury, perhaps a more focused kind of

re-search, but in any case more knowledge.

As to possible solutions, one tends to be

wary of the grand schemes, for they are apt

to be either gruesome or ridiculous or both.

We repudiate the Hitlerian brand of

nega-tive eugenics, forced sterilization and

exter-mination of the unfit or those presumed to

be unfit, as incompatible with a-one hopes

unalterable-respect for life and human

dignity. We cannot cease to be human in

order to save humanity, any more than we

can make war to save the peace. And

go’-ernmental licensing of procreation is only

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ao PEDIATRICIAN AND SPECIES

any case hardly enforceable. We might

re-frain, however, from putting a premium on

breeding children born out of wedlock, as

the American programs of Aid to

Depen-dent Children in effect are now doing,

al-though even this modest step presents

con-siderable moral and practical difficulties.

Among the positive approaches the

so-called germinal choice has a certain appeal and is no longer beyond our technical corn-petence. Its major apostle has been the late

Herman Muller, a great geneticist and

hu-manitarian, and one of several Nobel

laure-ates who have risked their reputations in

the hustings. The storage and wide

distri-hution of sperm for artifical insemination

from donors thought to possess highly

de-sirable qualities is not likely to find general

acceptance and for this reason alone seems

unrealistic. We do not know, moreover,

how to define what is biologically desirable now, let alone in the future. Shall we breed

Einsteins and Bertrand Russells, or

Shake-speares and Beethovens, or Olympic

win-ners and captains of football teams? One is

always reminded in this connection of the

famous story of Bernard Shaw and the

beautiful woman who wanted him to father

a child by her but was gently discouraged

by the suggestion that the offspring might

turn out to have his looks and

her

brains.

The talk by some Nobel laureates and

other highly respectable scientists about so-called genetic surgery, that is the

elimina-tion, addition, or substitution of genes

within the germ cell strikes me as absurd, perhaps because I lack the necessary

imagi-nation. Assuming that the genes could be

localized with the necessary precision, I

doubt that I would ever be willing to trust

such a surgeon with his laser beam. But

even if procedures of this kind were ever to

become feasible and reliable, it still seems

much simpler and more economical to rely

on the old-fashioned method of

reproduc-tion than to attempt to correct existing

de-fects or to upstage Nature by tampering

with molecules. Science fiction has proved

to be horrifyingly accurate in foretelling

the shape of things to come, but surely

there is a limit. And as for so-called cloning,

the regeneration of whole individuals from

single somatic cells or parts of the body,

with the perspective of mass-producing

hordes of identical people from one

tern-plate, that, too, seems to me to belong in

the category of science fiction or perhaps

more accurately, in the Grand Guignol type

of horror chamber.

But the lack of patent solutions does not

mean that we are completely helpless. A

number of modest but important steps can

be taken or at least considered right now.

The most important measure is birth

con-trol, because it not only reduces total

popu-lation pressures but because it is bound to

affect differential fertility. To the extent that one dares to equate social achievement with intelligence, birth control is already effective in limiting the size of families in

the more highly developed countries and

within these among the middle and upper

strata where it is more effective than in the

underdeveloped nations and among the

poor. Widely applied, it would tend to reg-ulate the proportion of those now breeding indiscriminately.

A second ready-made mechanism

appli-cable to eugenics is, of course, abortion.

The liberalization of the abortion laws is

proceeding at a rapid rate in many

coun-tries. One may feel about this practice as

one wishes, but it is an accomplished fact

that can be utilized to at least one good

purpose, the elimination of defective

chil-dren, and society has already condoned

abortion in the case of mothers exposed to

German measles early in pregnancy. We frown on infanticide, but we permit it when the veil of the womb is drawn over the crime.

Women 45 years of age have a better than

1:40 chance of producing a mongolian

id-iot. It is now possible to recognize the

chro-mosomal abnormality underlying this

con-dition at an early stage of gestation and to abort the fetus. Wisely restricted, this type of preventive medicine seems admissible.

Another obvious approach involves the

voluntary sterilization of certain types of

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carry-ing a dangerous dominant trait like

retino-blastoma, hemizygotes like hemophilic

males, and perhaps one or the other

mar-riage partner of a couple known to be

het-erozygous for a serious defect, such as the

cystic fibrosis trait, who have a 1 : 4 chance

of producing homozygous, affected

off-spring. Such heterozygotes are not usually

identified until they have produced at least

one defective child, and the detection of

heterozygotes prior to marriage by means

of biochemical or functional tests should

therefore be increasingly our concern. In

the case of thalassemia and the sickling

trait, detection is already a simple matter, and we should try to dissuade two carriers of such a trait from marrying, and let amour take a back seat for the benefit of the spe-cies.

This example has already brought us to

the subject of genetic counselling. Here the

pediatrician can play a very important role

by making an early and accurate diagnosis of the condition in question, so that

deci-sions can be made before another

preg-nancy has begun. He is in the best position to influence the family, and it is mandatory

therefore that he should possess a good

knowledge of genetics and have the time,

the patience, and the ability to communi-cate with laymen, in order to be effective. But it is perhaps equally important that the

public at large be educated to the larger

implications of genetic and other medical

facts, so as to encourage a gradual change

in attitudes. If we take as objective a view

of ourselves and our own prejudices,

moti-vations, and taboos as we do of our

scien-tific experiments, we may come to admit

that we are at times setting too high a price

on life and on reproduction. The command

“Be fruitful and multiply” evolved at a time

when the tribe with the greatest number

had the best chance of surviving. Times

have changed, and a small, highly

intelli-gent, highly organized group is likely to

have the advantage now.

The pediatrician can further contribute

to the cause by judicious neglect. He

cer-tainly needs to make no extra effort to save

the clearly defective child that is certain to

become a burden to its family and to

soci-ety. But this is dangerous and largely

un-charted territory, and guidelines are

ur-gently needed. It is not enough to let each

man’s conscience be his guide. Nor can we

place the burden of such decisions on the

family itself. One would like to see mecha-nisms come into being that assist the doctor

in such situations, perhaps a council of

physicians, ministers, behavioral and social scientists, lawyers, and just plain, intelli-gent laymen, with rotating membership.

Finally, we must minimize environmental

hazards of actual or potential mutagenic

character. Radiation clearly belongs to this

category and must be controlled at the

po-litical and technical level. Pollutants and

drugs must be carefully screened. As a

pro-fession we must exert pressure.

I have come to the end of my sermon-for

I am afraid I have been preaching rather

than lecturing. Yet the Jacobson Lecture

seemed to be too good an opportunity to

miss. Science is progressing nicely under its

new momentum, and perhaps it is not too

reactionary a view to say that the human

race could live quite comfortably if no fur-ther progress were made. I do not advocate such a negative attitude, but I do believe that the moral, social, and biological

impli-cations of our achievements must now

re-ceive our earnest attention.

In my introductory remarks I commented

rather unkindly on the insularity of the

medical profession. I would be a very poor

guest indeed if I did not exempt my hosts

here at Newcastle from this charge. My

all-too-brief stay here has brought me in

con-tact with an alert, open-minded group of

people whose interests far transcend their

professional concerns. In fact, I have

learned as much about Norman churches,

Roman fortifications, English history, music,

antique furniture, vintage automobiles, and

vintage wines as about respiratory viruses

and hematologic disorders, and I am

grate-ful to the sponsor, Mr. Jacobson, and to the

Faculty of Medicine for making this

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1971;47;339

Pediatrics

Wolf W. Zuelzer

ACHIEVEMENTS