Disclosure of genetic information ; An Invitational Symposium

Jérôme LEJEUNE, M.D., PH.D.

The Journal of Reproductive Medicine : LYING-IN ; Volume 2, Number 5/May, 1969.


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Introduction

Human genetics and cytogenetics are relatively new fields, and for this reason a large number of physicians and research investigators have completed their formal training with little or no information of this science. Within the past decade there has been an enormous addition to our knowledge of human genetics. As our probing continues, our conscience undergoes more and more self reflection.

This concern is shared, in a unique way, not only by the medical profession but by much of society itself - patients, families, the legal profession and the communications media, to name a few.

The art of genetics has reached the point where it has now assumed its rightful place in the total care of the patient and we believe that it is incumbent upon the scientific community to develop an ethical code addressed to the problem of how best to handle genetic information once obtained.

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Coordinators :

1. Should genetic information be placed on the medical record?

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Dr.Lejeune :

Your questions are so pertinent that answers are extremely difficult for the very reason that genetics involves not only the patient but also his family (in the very broad sense of the term).

Genetic information must be placed on the medical record of the family physician or on the files of the geneticists. It cannot be made available to everyone, even if they are an M.D.

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Coordinators :

2. To what extent is an investigator obliged to divulge this information to the patient, family, and attending physician?

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Dr. Lejeune :

If the patient can be endangered by concealing information, this must be disclosed to the patients or the attending physician.

Eventual data of voluntary abortions, illegitimacy and other things alike must be kept secret.

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Coordinators :

3. What guidelines do you use at the present time in communicating genetic information to the scientific literature or the mass media? How did you obtain your guidelines? What are your thoughts on formulation of guidelines?

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Dr. Lejeune :

The guidelines are essentially derived from the Hippocratic oath. In any public statement or publication, the identity of the patient must be concealed so that no recognition of individuals is possible.

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Coordinators :

4. Should all newborn be screened and the genotype be made a part of the permanent record? To what extent should this information be communicated to the parent or anyone else?

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Dr. Lejeune :

The screening of all newborn can be envisaged only theoretically. The parents alone would be entitled to ask for such information.

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Coordinators :

5. What would you do if public and parental pres-sure demand that the par-ents of offspring with anom-alous genotypes be informed?

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Dr. Lejeune :

Anomalous genotypes produce abnormalities. Hence if parents ask the cause of the abnormality of their child there is no reason to conceal it, except in special cases in which a translocation is observed in one of the parents and demonstrated to be the cause of the disease of the child, in which case the secret must be kept absolute.

The carrier parent is offered a private interview. The case is explained to him alone, and he decides whether his conjux must be told. Up until now, in some cases, the carrier asked for an explanation to be given to his conjux and the matter was discussed with both of them, separately and then together.

Should the carrier have decided his own conjux should not know, the entire secret would have been kept.

In no case should such findings be made available to others, even family doctors, before full consent of the carrier is given.

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Coordinators :

6. If you are asked to acquire the genotypes of a group of noninstitutionalized individuals and a num-ber of anomalous genotypes were found, such genotypes carrying a potential stigma, how would you handle the situation?

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Dr. Lejeune :

Such a case has happened. In each case, the carrier was offered an interview in full privacy and the personal explanation I gave was: "The examination gave abnormal results, possibly wrong, but in your own interest, a second check would be eventually useful to detect something of possible concern to your health."