A m e r i c a n Journal of Medical Genetics 35:215-218 (1990)
Legal and Ethical Implications of Fetal Diagnosis and Gene Therapy George J. Annas and Sherman Elias Health Law Section, Boston University Schools of Medicine and Public Health (G.J.A.),Boston; Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis (S.E.)
With rapidly expanding capabilities in prenatal diagnosis and treatment resulting from new technologies, the medical profession is increasingly being confronted with legal uncertainties and ethical dilemmas. In this paper, we review current acceptable standards of care in the area of medical practice as related to genetic counseling and prenatal diagnosis. We emphasize that any attempts at therapeutic genetic intervention be carried out only 1) when there is reasonable scientific evidence that it will cure or prevent a disabling disease, and b) with the informed, voluntary, competent, and understanding consent of the individuals involved. KEY WORDS: prenatal diagnosis, genetic counseling, genetic interventions INTRODUCTJON In recent years there has been a growing expectation from the public that medical science, especially obstetrics and genetics, can ensure that only healthy babies are born. In the past physicians felt relatively comfortable in determining what was considered appropriate ethical conduct related to health care practice, and there was little practical concern regarding legal liabilities. However, with rapidly expanding capabilities in fetal diagnosis and treatment resulting from new technologies, physicians now face numerous ethical dilemmas with uncertainty and confusion while practicing in a climate in which malpractice suits threaten even the most competent and conscientious practitioner. We disReceived for publication December 9, 1988; revision received April 20, 1989. This paper was presented at the “FirstTrimester Genetic Diagnosis and Therapy: Current Status and Future Prospects” Symposium, September 17-19, 1987, Chicago, Illinois. Address reprint requests to Sherman Elias, Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis, TN 38163.
0 1990 Wiley-Liss, Inc.
cuss here some of the legal and ethical implications of fetal diagnosis and gene therapy. This paper is based primarily on previous works by the authors [Annas and Elias, 1986; Elias and Annas, 19871. PRENATAL DIAGNOSIS AND GENETIC COUNSELING In the most recent edition of Standards for Obstetric-Gynecologic Services [American College of Obstetricians and Gynecologists, 19851, the Committee on Professional Standards of The American College of Obstetricians and Gynecologists clearly delineated the “standard of care” that obstetricians are expected to provide with respect to genetic counseling and prenatal diagnosis as follows: “Antenatal screening for genetic disorders is an integral part of obstetric care. In some instances, identification of possible risks and appropriate diagnostic measures can be undertaken prior to pregnancy. The history obtained during the initial evaluation should be reviewed to detect signs of possible genetic disorders: abnormal outcome of a previous pregnancy, family history of birth defects, mental retardation, and other known or suspected inherited or metabolic disorders. Couples who have increased risks for producing abnormal offspring may undergo antenatal diagnostic studies after appropriate counseling. The following factors are indicative of such risk. Advanced maternal age (35 years or older at expected time of delivery) Previous offspring with a chromosomal aberration, particularly autosomal trisomy Chromosomal abnormality in either parent, particularly a translocation Family history of a sex-linked condition Inborn errors or metabolism Neural tube defects Hemoglobinopathies Amniocentesis, fetoscopy, chorionic villus sampling, ultrasound examination, and cytogenetic assessment are some of the tests used for antenatal genetic diagnosis. Physicians should not hesitate to seek consultations with specialists in the antenatal diagnosis of genetic disorders. . . .
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not only that the physician was negligent in the care of the pregnant woman but also that, had the negligent act not been done, the child would not have been born (e.g., had the woman been properly informed that she was a t risk to have a child with Down syndrome, she would have sought amniocentesis and had a n abortion if her fetus was so affected). A related, but far more controversial, lawsuit is for the child (through parents or guardian) to sue the physician because it was born, the socalled “wrongful birth” suit. Until recently, most courts rejected lawsuits by the child because they thought it was impossible to measure damages, i.e., to put a monetary value on life in an impaired condition and to compare this with nonexistence. The choice for these children is never to be born healthy, but only to be born with a handicap (such as Down syndrome or Tay Sachs disease) or never to be born at all. We think that future courts are likely to limit such actions to serious handicaps, those in which fetuses, if they could speak to us (which, of course, they can do only through their parents), would agree with a n “objective societal consensus’’ In prenatal diagnosis cases in which the physician 1) that their own best interests would be served if they fails to inform the parents of the existence of a test were aborted. Put another way, they would be better off, applicable to their situation, 2) negligently performs the from their own perspective, if they never existed. Cases test, 3) fails to refer to a specialist who could perform the like deafness and Down syndrome would probably not test, or 4) inaccurately informs the couple about their qualify; whereas cases like Tay Sachs disease and tririsks of having a n affected child, courts now almost somy 18 would. Measuring damages is problematic, but universally permit them to sue their physician for de- courts are likely to award a t least the added medical priving them of their right to make a decision about costs to parents due to the handicap itself. Howcver, commencing or continuing a pregnancy. Such a lawsuit since these damages can be recovered in a “wrongful is sometimes termed a “wrongful birth” case. The ratio- birth” case directly, wrongful life cases are likely to be nale for permitting parents to recover damages in such a brought only in those rare cases where for some reason case is set forth in typical language by a Texas court. (e.g. the child has been given up for adoption) the parents have lost the right to sue on their own behalf. “It is impossible for us to justify a policy which a t once What then, are the legal and ethical obligations of the deprives the parents of information by which they could physician in relationship to genetic counseling and preelect to terminate the pregnancy likely to produce a natal diagnosis? The following conclusions may be child with a defective body, a policy which in effect drawn. requires that the deficient embryo be carried to full First, the law requires physicians to give accurate gestation until the deficient child is born, and which information to the prospective parents and forbids withpolicy then denies recovery from the tortfeasor of costs of holding vital information from them. These principles treating and caring for the defects of the child [Jacobs v. are consistent with the doctrine of “informed consent” Theimer, 19751.’’ and the reasonable expectations of pregnant women under a physician’s care [Annas, 19791.The physician does We believe this policy conclusion is correct. Any wo- not guarantee a healthy child, but the reasonable expecman who employs a physician for prenatal care should tation of the patient is that she will be apprised of any have the right to have the physician fully inform her of information the physician has that the child might be any reason the physician has to believe that her fetus handicapped and of the alternative ways to proceed, so might be handicapped and further to inform her of the that the patient can determine what action to take existence of diagnostic tests that might identify the pre- [Annas and Coyne, 19751. cise genetic condition. The physician incurs this duty to Second, no obstetrician can be required to perform a disclose because it is this type of information that the prenatal diagnostic test (e.g., amniocentesis, chorionic pregnant woman seeks prenatal care to discover, i.e., to villus sampling).Indeed, many are not qualified to perlearn all she can to help her have a healthy child. The form such procedures, and for them to do so may be physician, of course, does not guarantee a healthy child, malpractice itself. As stated by the Judicial Council of but it is entirely reasonable for the pregnant woman to the American Medical Association [Recent Opinions of expect her physician to appraise her of any relevant the Judicial Council of the American Medical Associainformation regarding her fetus, and options she might tion, 19841: have, so that she and the child’s father can determine “Physicians who consider the legal and ethical rewhat action to take [Annas and Coyne, 19751. A suit by the parents of a handicapped child is for quirements applicable to genetic counseling to be in “wrongful life” of the child and must allege and prove conflict with their moral values and conscience may
The gynecologist should be alert to any indication of genetic disorders or conditions that might lead to birth defects. Screening for the detection of potential genetic disorders begins with a careful history of family, drug, and environmental factors. Inquiries should be made about the outcome of previous pregnancies, mental retardation, or other known or suspected inherited or metabolic disease. Whenever possible, disorders should be diagnosed prior to pregnancy. When a genetic disorder is suspected, the gynecologist should discuss with the patient the ways in which the genetic disorder may affect her health, her reproductive capabilities, or the development of her offspring. When counseling a couple with a suspected genetic abnormality, the gynecologists should provide the information necessary for the patient to decide, based on the potential social, emotional, and economic consequences, whether to proceed with further investigation. The gynecologist may wish to refer patients with potential genetic disorders to qualified genetic counseling and evaluation centers.”
Legal Ethical Implications of Fetal Diagnosis choose to limit such services to preconception diagnosis and advice or not provide any genetic services. However, there are circumstances in which the physician who is so disposed is nevertheless obligated to alert prospective parents that a potential genetic problem does exist, that the physician does not offer genetic services, and that the patient should seek medical genetic counseling from another qualified specialist.” Third, genetic counseling should be nondirective, that is, the counselor tries to remain objective in providing information that will allow patients to make their own rational decision. The Judicial Council of the American Medical Association has given the following opinion [Recent opinions of the Judicial Council of the American Medical Association, 19841. “Physicians, whether they do or do not oppose contraception, sterilization or abortion, may decide that they can engage in genetic counseling and screening, but should avoid the imposition of their personal moral values and the substitution of their own moral judgment for that of the prospective parents. The ethical and moral decisions have to be made by the family and should not be imposed by the physician.” Fourth, to ensure the patient’s interest in both autonomy and privacy, no information obtained in genetic counseling or screening should be disclosed to any third party, especially insurers and employers, without the patient’s informed consent [Annas, 1976; President’s Commission, 19831. Such strict nondisclosure policies should be maintained unless and until specific legislation is enacted that would clearly delineate the circumstances in which confidentiality must be breached, certain contagious diseases, gunshot wounds, and child abuse. On the other hand, counselors should attempt to persuade patients to allow them to make disclosures of important information to potentially affected relatives and, when relatives are a t similar and unknown genetic risks, may be justified in making direct disclosure if the patient refuses. The President’s Commission recommended that, even if the patient refused to consent to disclosure, it would be ethically acceptable to breach confidentiality and disclosure to relatives if 3 conditions are met: 1)there is high probability of harm, 2) harm to identifiable individuals is serious, and 3) precautions are taken to limit disclosure to appropriate genetic information [President’s Commission, 1983; Fletcher, 19881. This essentially restates the “Tarasoff rule” in the genetic counseling case, providing a n exception to a general rule of confidentiality where serious harm could accrue to a n identifiable individual that could be prevented by a disclosure. We think a n exception in this case is reasonable, but, with proper planning and counseling, the need to use such a n exception should almost never arise [Annas and Coyne, 19751. We recommend that the genetic counselor make clear: both verbally and in writing, the policy that he or she follows so that the patient can refuse to be screened or counseled if he or she is not in agreement with the disclosure policy. Such agreements will serve to heighten the public’s confi-
217
dence in genetic counseling and will encourage people to participate voluntarily in both screening and counseling.
GENETHERAPY Gene therapy is controversial because it seems to presage human manipulation of the “gene pool” and thus of the future of the race. Moreover, the “eugenics movement” has taught us that we are unable to determine for what characteristics to “enhance” or selectively breed or engineer [Keules, 19851. Accordingly, i t is useful to distinguish between gene therapy designed to help an individual sick person by treatment of somatic cells and all other types of potential “genetic engineering” LJohnson and Elias, 19881.Research on the first differs from other medical research primarily by the target of manipulation (the gene) rather than by the overall goal (to treat diseased individuals).Thus, for example, it is difficult to identify any unique legal or ethical issues in trying to activate, supplement,or replace the gene responsible for the production of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT), the absence of which produces Lesch-Nyhan syndrome in a n individual with that disease. While the medical profession carries out its societal mandate to identify and cure human diseases, including those caused by genetic factors, we must consistently urge that this be done only with the informed consent of individual patients and with informed public discussion of the myriad issues and interests involved. Human gene therapy is a potential good that in time can help correct numerous devastating genetic disorders. Carefully constructed protocols and systematic review of them, such a s by the National Institutes of Health’s Working Group on Gene Therapy, should help ensure that this work is not prematurely applied to humans and that the risks are outweighed by the benefits [see reference “Points to Consider”]. More difficult questions are, of course, presented by gametic gene therapy, which leads some to oppose it completely and others to propose guidelines for its use. John Fletcher [19831, for example, has argued that i t could be acceptable a s long as the therapy 1)will benefit the subjects and their offspring with no demonstrable harm, 2) can be confined to medically necessary goals, and 3) will not threaten the ethical systems most treasured by society. This third condition, of course, can be seen as simply begging the question. Others have also suggested that this scheme puts too much faith in our ability to define what is “medically necessary.” Biologists Grobstein and Fowler [1984] for example, believe we need more stringent policy guidelines, and have suggested 4 principles to initiate discussion: 1. No genetic intervention shall be attempted on any human being with the intention or reasonable expectation that it will reduce either somatic or germline potential (intended to prevent gene transfer from becoming a tool for government tyranny). 2. Any human genetic modification that is intended or may reasonably be expected to alter germline cells
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shall not be attempted without special review and sanction by a body suitably constituted to evaluate not only technical risks of effects on the human gene pool but political, social and moral aspects as well (this affirms the special problems raised by germline modification). 3. Except as demonstrably required under 1and 2, no restriction shall be placed on research intended to increase understanding of human heredity and its expression (a freedom to research principle). 4. Principles regarding human genetic therapy should be incorporated into both national policy and international covenants, since the human gene pool knows no boundaries with the species. These principles replace “medically necessary” a s a requirement for germ cell modification with prior approval of “a body suitably constituted to evaluate not only technical risks of effects on the human gene pool, but political, social andmoral aspects as well.” This may seem like slight progress, but it is real. The issues involved in human germ-cell research are not only, or even primarily, medical. Putting research oversight into a multidisciplinary review body, with public representation, recognizes this fact, and that recognition alone is a giant step toward further constructive dialogue and reasonable policy development [Culliton, 19851. Others have noted that it will take a t least 3 generations of humans to see 1)if the “engineered” trait is passed in the sex cells and 2) if any “side effects” are produced. This could mean a 50 year research phase, making germ-cell therapy unlikely and impractical. We are almost ready to begin somatic gene therapy [Simmons, 19851; germ-cell therapy may never be used or useful.
CONCLUSION There are 2 questions that need t o be answered prior to any genetic intervention, from chorionic villus sampling to amniocentesis, from fetal surgery to gene therapy; 1)Is there reasonable scientific evidence to believe that it will cure or prevent a disabling disease? 2) Is the intervention done with the informed, voluntary, competent and understanding consent of the individuals involved? If the answers to these questions are “yes,” we believe a reasonable balance will be achieved between human health and human values and result in healthier
offspring who retain their personhood, human rights, and human dignity.
REFERENCES The American College of Obstetricians and Gynecologists (19851,; “Standards for Obstetric-Gynecologic Services. 6th ed, 1985. Washington, DC: The American College of Obstetricians and Gynecologists. Annas GJ (1979): Medical paternity and “wrongful life.” Hastings Center Rep 915-17. Annas GJ (1976):Problems of informed consent and confidentiality in genetic counseling. In Milunsky A, Annas GJ (eds):“Genetics and the Law.” New York: Plenum Press, pp 111-122. Annas GJ, Coyne B 11975):‘Fitness’for birth and reproduction: Legal implications of genetic screening. Family Life Q 9:463-489. Annas GJ, Elias S (1986): Legal and ethical issues in perinatology. In Gabbe SG. Niebvl JR. SimDson J L (eds): “Obstetrics: Normal and Problem kregnancies.” New York: Churchill Livingstone, pp 1079-1092. Culliton BJ (1985): Gene therapy: Research in public. Science 227:493-496. Elias S, Annas GJ (1987):“Reproductive Genetics and the Law.” Chicago: Yearbook Medical Publishers. Fletcher JC (1983): Moral problems and ethical issues in prospective human gene therapy. Virginia Law Rev 69515-546. Fletcher J C (1988):What are society’s interests in human and reproductive technologies? Law, Med Health Care 16:131-137. Grobstein C, Fowler M (1984): Gene therapy: Proceed with caution. Hastings Center Rep 14:13-17. Jacobs v. Theimer, 519 S W 2d 846, 849 (Tex 1975) Johnson JA, and Elias S (1988): Medical and gene therapy in the fetus. Clin Obstet Gynecol 31:390-407. Keules DJ (1985):“In the Name of Eugenics. Genetics and the Uses of Human Heredity.” New York: Alfred A. Knopf. Points to Consider in the Design and Submission of Human SomaticCell Gene Therapy Protocols. Office of Recombinant DNA Activities, Eational Institutes of Health, Building 31, Room 3B10, Bethesda, MD 20205. President’s Commissions for the Study of Ethical Problems in Medicine and Biomedical and Behavioral &search: Screening and Counseling for Genetic Conditions, Feb. 1983, Library of Congress No. 83-600502, U S . Government Printing Office, Washington, DC 20402. Recent opinions of thc Judicial Council of the American Medical Association 91984): JAMA 251:2078-2079. Simmons K (1985): Clinical stage draws nearer in ongoing studies of gene therapy. JAMA 253:13-15.
Legal and Ethical Implications of Fetal Diagnosis and Gene Therapy George J. Annas and Sherman Elias Health Law Section, Boston University Schools of Medicine and Public Health (G.J.A.),Boston; Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis (S.E.)
With rapidly expanding capabilities in prenatal diagnosis and treatment resulting from new technologies, the medical profession is increasingly being confronted with legal uncertainties and ethical dilemmas. In this paper, we review current acceptable standards of care in the area of medical practice as related to genetic counseling and prenatal diagnosis. We emphasize that any attempts at therapeutic genetic intervention be carried out only 1) when there is reasonable scientific evidence that it will cure or prevent a disabling disease, and b) with the informed, voluntary, competent, and understanding consent of the individuals involved. KEY WORDS: prenatal diagnosis, genetic counseling, genetic interventions INTRODUCTJON In recent years there has been a growing expectation from the public that medical science, especially obstetrics and genetics, can ensure that only healthy babies are born. In the past physicians felt relatively comfortable in determining what was considered appropriate ethical conduct related to health care practice, and there was little practical concern regarding legal liabilities. However, with rapidly expanding capabilities in fetal diagnosis and treatment resulting from new technologies, physicians now face numerous ethical dilemmas with uncertainty and confusion while practicing in a climate in which malpractice suits threaten even the most competent and conscientious practitioner. We disReceived for publication December 9, 1988; revision received April 20, 1989. This paper was presented at the “FirstTrimester Genetic Diagnosis and Therapy: Current Status and Future Prospects” Symposium, September 17-19, 1987, Chicago, Illinois. Address reprint requests to Sherman Elias, Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Tennessee, Memphis, TN 38163.
0 1990 Wiley-Liss, Inc.
cuss here some of the legal and ethical implications of fetal diagnosis and gene therapy. This paper is based primarily on previous works by the authors [Annas and Elias, 1986; Elias and Annas, 19871. PRENATAL DIAGNOSIS AND GENETIC COUNSELING In the most recent edition of Standards for Obstetric-Gynecologic Services [American College of Obstetricians and Gynecologists, 19851, the Committee on Professional Standards of The American College of Obstetricians and Gynecologists clearly delineated the “standard of care” that obstetricians are expected to provide with respect to genetic counseling and prenatal diagnosis as follows: “Antenatal screening for genetic disorders is an integral part of obstetric care. In some instances, identification of possible risks and appropriate diagnostic measures can be undertaken prior to pregnancy. The history obtained during the initial evaluation should be reviewed to detect signs of possible genetic disorders: abnormal outcome of a previous pregnancy, family history of birth defects, mental retardation, and other known or suspected inherited or metabolic disorders. Couples who have increased risks for producing abnormal offspring may undergo antenatal diagnostic studies after appropriate counseling. The following factors are indicative of such risk. Advanced maternal age (35 years or older at expected time of delivery) Previous offspring with a chromosomal aberration, particularly autosomal trisomy Chromosomal abnormality in either parent, particularly a translocation Family history of a sex-linked condition Inborn errors or metabolism Neural tube defects Hemoglobinopathies Amniocentesis, fetoscopy, chorionic villus sampling, ultrasound examination, and cytogenetic assessment are some of the tests used for antenatal genetic diagnosis. Physicians should not hesitate to seek consultations with specialists in the antenatal diagnosis of genetic disorders. . . .
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not only that the physician was negligent in the care of the pregnant woman but also that, had the negligent act not been done, the child would not have been born (e.g., had the woman been properly informed that she was a t risk to have a child with Down syndrome, she would have sought amniocentesis and had a n abortion if her fetus was so affected). A related, but far more controversial, lawsuit is for the child (through parents or guardian) to sue the physician because it was born, the socalled “wrongful birth” suit. Until recently, most courts rejected lawsuits by the child because they thought it was impossible to measure damages, i.e., to put a monetary value on life in an impaired condition and to compare this with nonexistence. The choice for these children is never to be born healthy, but only to be born with a handicap (such as Down syndrome or Tay Sachs disease) or never to be born at all. We think that future courts are likely to limit such actions to serious handicaps, those in which fetuses, if they could speak to us (which, of course, they can do only through their parents), would agree with a n “objective societal consensus’’ In prenatal diagnosis cases in which the physician 1) that their own best interests would be served if they fails to inform the parents of the existence of a test were aborted. Put another way, they would be better off, applicable to their situation, 2) negligently performs the from their own perspective, if they never existed. Cases test, 3) fails to refer to a specialist who could perform the like deafness and Down syndrome would probably not test, or 4) inaccurately informs the couple about their qualify; whereas cases like Tay Sachs disease and tririsks of having a n affected child, courts now almost somy 18 would. Measuring damages is problematic, but universally permit them to sue their physician for de- courts are likely to award a t least the added medical priving them of their right to make a decision about costs to parents due to the handicap itself. Howcver, commencing or continuing a pregnancy. Such a lawsuit since these damages can be recovered in a “wrongful is sometimes termed a “wrongful birth” case. The ratio- birth” case directly, wrongful life cases are likely to be nale for permitting parents to recover damages in such a brought only in those rare cases where for some reason case is set forth in typical language by a Texas court. (e.g. the child has been given up for adoption) the parents have lost the right to sue on their own behalf. “It is impossible for us to justify a policy which a t once What then, are the legal and ethical obligations of the deprives the parents of information by which they could physician in relationship to genetic counseling and preelect to terminate the pregnancy likely to produce a natal diagnosis? The following conclusions may be child with a defective body, a policy which in effect drawn. requires that the deficient embryo be carried to full First, the law requires physicians to give accurate gestation until the deficient child is born, and which information to the prospective parents and forbids withpolicy then denies recovery from the tortfeasor of costs of holding vital information from them. These principles treating and caring for the defects of the child [Jacobs v. are consistent with the doctrine of “informed consent” Theimer, 19751.’’ and the reasonable expectations of pregnant women under a physician’s care [Annas, 19791.The physician does We believe this policy conclusion is correct. Any wo- not guarantee a healthy child, but the reasonable expecman who employs a physician for prenatal care should tation of the patient is that she will be apprised of any have the right to have the physician fully inform her of information the physician has that the child might be any reason the physician has to believe that her fetus handicapped and of the alternative ways to proceed, so might be handicapped and further to inform her of the that the patient can determine what action to take existence of diagnostic tests that might identify the pre- [Annas and Coyne, 19751. cise genetic condition. The physician incurs this duty to Second, no obstetrician can be required to perform a disclose because it is this type of information that the prenatal diagnostic test (e.g., amniocentesis, chorionic pregnant woman seeks prenatal care to discover, i.e., to villus sampling).Indeed, many are not qualified to perlearn all she can to help her have a healthy child. The form such procedures, and for them to do so may be physician, of course, does not guarantee a healthy child, malpractice itself. As stated by the Judicial Council of but it is entirely reasonable for the pregnant woman to the American Medical Association [Recent Opinions of expect her physician to appraise her of any relevant the Judicial Council of the American Medical Associainformation regarding her fetus, and options she might tion, 19841: have, so that she and the child’s father can determine “Physicians who consider the legal and ethical rewhat action to take [Annas and Coyne, 19751. A suit by the parents of a handicapped child is for quirements applicable to genetic counseling to be in “wrongful life” of the child and must allege and prove conflict with their moral values and conscience may
The gynecologist should be alert to any indication of genetic disorders or conditions that might lead to birth defects. Screening for the detection of potential genetic disorders begins with a careful history of family, drug, and environmental factors. Inquiries should be made about the outcome of previous pregnancies, mental retardation, or other known or suspected inherited or metabolic disease. Whenever possible, disorders should be diagnosed prior to pregnancy. When a genetic disorder is suspected, the gynecologist should discuss with the patient the ways in which the genetic disorder may affect her health, her reproductive capabilities, or the development of her offspring. When counseling a couple with a suspected genetic abnormality, the gynecologists should provide the information necessary for the patient to decide, based on the potential social, emotional, and economic consequences, whether to proceed with further investigation. The gynecologist may wish to refer patients with potential genetic disorders to qualified genetic counseling and evaluation centers.”
Legal Ethical Implications of Fetal Diagnosis choose to limit such services to preconception diagnosis and advice or not provide any genetic services. However, there are circumstances in which the physician who is so disposed is nevertheless obligated to alert prospective parents that a potential genetic problem does exist, that the physician does not offer genetic services, and that the patient should seek medical genetic counseling from another qualified specialist.” Third, genetic counseling should be nondirective, that is, the counselor tries to remain objective in providing information that will allow patients to make their own rational decision. The Judicial Council of the American Medical Association has given the following opinion [Recent opinions of the Judicial Council of the American Medical Association, 19841. “Physicians, whether they do or do not oppose contraception, sterilization or abortion, may decide that they can engage in genetic counseling and screening, but should avoid the imposition of their personal moral values and the substitution of their own moral judgment for that of the prospective parents. The ethical and moral decisions have to be made by the family and should not be imposed by the physician.” Fourth, to ensure the patient’s interest in both autonomy and privacy, no information obtained in genetic counseling or screening should be disclosed to any third party, especially insurers and employers, without the patient’s informed consent [Annas, 1976; President’s Commission, 19831. Such strict nondisclosure policies should be maintained unless and until specific legislation is enacted that would clearly delineate the circumstances in which confidentiality must be breached, certain contagious diseases, gunshot wounds, and child abuse. On the other hand, counselors should attempt to persuade patients to allow them to make disclosures of important information to potentially affected relatives and, when relatives are a t similar and unknown genetic risks, may be justified in making direct disclosure if the patient refuses. The President’s Commission recommended that, even if the patient refused to consent to disclosure, it would be ethically acceptable to breach confidentiality and disclosure to relatives if 3 conditions are met: 1)there is high probability of harm, 2) harm to identifiable individuals is serious, and 3) precautions are taken to limit disclosure to appropriate genetic information [President’s Commission, 1983; Fletcher, 19881. This essentially restates the “Tarasoff rule” in the genetic counseling case, providing a n exception to a general rule of confidentiality where serious harm could accrue to a n identifiable individual that could be prevented by a disclosure. We think a n exception in this case is reasonable, but, with proper planning and counseling, the need to use such a n exception should almost never arise [Annas and Coyne, 19751. We recommend that the genetic counselor make clear: both verbally and in writing, the policy that he or she follows so that the patient can refuse to be screened or counseled if he or she is not in agreement with the disclosure policy. Such agreements will serve to heighten the public’s confi-
217
dence in genetic counseling and will encourage people to participate voluntarily in both screening and counseling.
GENETHERAPY Gene therapy is controversial because it seems to presage human manipulation of the “gene pool” and thus of the future of the race. Moreover, the “eugenics movement” has taught us that we are unable to determine for what characteristics to “enhance” or selectively breed or engineer [Keules, 19851. Accordingly, i t is useful to distinguish between gene therapy designed to help an individual sick person by treatment of somatic cells and all other types of potential “genetic engineering” LJohnson and Elias, 19881.Research on the first differs from other medical research primarily by the target of manipulation (the gene) rather than by the overall goal (to treat diseased individuals).Thus, for example, it is difficult to identify any unique legal or ethical issues in trying to activate, supplement,or replace the gene responsible for the production of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT), the absence of which produces Lesch-Nyhan syndrome in a n individual with that disease. While the medical profession carries out its societal mandate to identify and cure human diseases, including those caused by genetic factors, we must consistently urge that this be done only with the informed consent of individual patients and with informed public discussion of the myriad issues and interests involved. Human gene therapy is a potential good that in time can help correct numerous devastating genetic disorders. Carefully constructed protocols and systematic review of them, such a s by the National Institutes of Health’s Working Group on Gene Therapy, should help ensure that this work is not prematurely applied to humans and that the risks are outweighed by the benefits [see reference “Points to Consider”]. More difficult questions are, of course, presented by gametic gene therapy, which leads some to oppose it completely and others to propose guidelines for its use. John Fletcher [19831, for example, has argued that i t could be acceptable a s long as the therapy 1)will benefit the subjects and their offspring with no demonstrable harm, 2) can be confined to medically necessary goals, and 3) will not threaten the ethical systems most treasured by society. This third condition, of course, can be seen as simply begging the question. Others have also suggested that this scheme puts too much faith in our ability to define what is “medically necessary.” Biologists Grobstein and Fowler [1984] for example, believe we need more stringent policy guidelines, and have suggested 4 principles to initiate discussion: 1. No genetic intervention shall be attempted on any human being with the intention or reasonable expectation that it will reduce either somatic or germline potential (intended to prevent gene transfer from becoming a tool for government tyranny). 2. Any human genetic modification that is intended or may reasonably be expected to alter germline cells
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shall not be attempted without special review and sanction by a body suitably constituted to evaluate not only technical risks of effects on the human gene pool but political, social and moral aspects as well (this affirms the special problems raised by germline modification). 3. Except as demonstrably required under 1and 2, no restriction shall be placed on research intended to increase understanding of human heredity and its expression (a freedom to research principle). 4. Principles regarding human genetic therapy should be incorporated into both national policy and international covenants, since the human gene pool knows no boundaries with the species. These principles replace “medically necessary” a s a requirement for germ cell modification with prior approval of “a body suitably constituted to evaluate not only technical risks of effects on the human gene pool, but political, social andmoral aspects as well.” This may seem like slight progress, but it is real. The issues involved in human germ-cell research are not only, or even primarily, medical. Putting research oversight into a multidisciplinary review body, with public representation, recognizes this fact, and that recognition alone is a giant step toward further constructive dialogue and reasonable policy development [Culliton, 19851. Others have noted that it will take a t least 3 generations of humans to see 1)if the “engineered” trait is passed in the sex cells and 2) if any “side effects” are produced. This could mean a 50 year research phase, making germ-cell therapy unlikely and impractical. We are almost ready to begin somatic gene therapy [Simmons, 19851; germ-cell therapy may never be used or useful.
CONCLUSION There are 2 questions that need t o be answered prior to any genetic intervention, from chorionic villus sampling to amniocentesis, from fetal surgery to gene therapy; 1)Is there reasonable scientific evidence to believe that it will cure or prevent a disabling disease? 2) Is the intervention done with the informed, voluntary, competent and understanding consent of the individuals involved? If the answers to these questions are “yes,” we believe a reasonable balance will be achieved between human health and human values and result in healthier
offspring who retain their personhood, human rights, and human dignity.
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