GENETIC COUNSELING AND SCREENING

Standards of Care, Customary Practice, and Legal Liability

by J. Douglas Peters and Keith S. Fineberg

Genetic counseling, genetic screening, and amniocentesis are important aspects of the practice of obstetrics/gynecology. Presented here are legal abstracts identifying the broad areas of liability physicians face when working in these areas; the basic standards of care enunciated by either the American Medical Association (AMA) or the American College of Obstetricians and Gynecologists; interpretation of customary practice in each area by the medical co-authors; and relevant appellate case decisions and legal discussion.

Genetic Counseling

Liability may be imposed on a physician for failing to refer a patient to a qualified genetic counselor and on a genetic counselor for failing to diagnose correctly a genetic condition that is later manifested in the patient’s offspring, or for failing to inform a patient of the consequence of being a carrier of a genetic defect.

Basic Standard of Care. The Council on Scientific Affairs of the AMA has identified the following indications for referring a patient to a genetic counselor.1

• Genetic or congenital anomaly in a family member;

• Family history of an inherited disorder;

• Abnormal somatic or behavioral development in a child;

• Mental retardation of unknown etiology in a child;

• Pregnancy in a woman older than age 35;

• Specific ethnic background suggestive of a high rate of genetic abnormality;

• Drug use or long-term exposure to possible teratogens or mutagens;

• Three or more spontaneous abortions, early infant deaths, or both; and

• Infertility.

Interpretation and Customary Practice. Genetic counseling is defined as the communication by one or more specially trained and skilled individuals to a counselee and his or her family about the diagnosis, genetic mechanism, prognosis, and alternate courses of action available to manage a genetically determined disorder.2  Such counseling differs from the conventional physician-patient situation in that the disorders involved result from abnormalities of the genes, the focus of decisions to be made is on future children, and the family or couple, rather than an individual is the "patient."

Most people seeking genetic counseling, however, are parents of a child with a birth defect who are concerned that the same defect might affect future offspring.3

Obstetrician-gynecologists should assess their own qualifications for offering such counseling. In a 1976 case, the New York Court of Appeals refused to impose upon all obstetricians the duty of become genetic counselors. The court expressed the fear that a contrary holding would compel all obstetricians to take lengthy genealogical histories of both parents, whether they requested it and whether medical circumstances indicated cause for concern. It also feared such a decision would burden obstetricians with inevitable legal liability should an infant be born with a genetic deformity. Howard v. Lecher, 53 A.D.2d 420, 386 N.Y.S.2d 460 (1976); aff’d, 42 N.Y.2d 109, 397 N.Y.S.3d 363, 366 N.E.2d 64 (1977); see also Park v. Chessin, 60 A.D.2d 80, 400 N.Y.S.2d 110 (1977). For this reason, obstetricians have a general legal duty to refer patients to specialists in the field of genetic counseling. See Richardson v. Holmes, 525 S.W.2d 293 (Tex. 1975); Wilson v. Gilbert, 25 Cal. App. 2d 607, 102 Cal. Rptr. 31 (1972); Largess v. Tatem, 291 A.2d 398 (Vt. 1972); Morgan v. Engles, 164 N.W.2d 702 (Mich. 1968).

In preconception genetic counseling, the counselor estimates the probability of a genetic defect recurring, informs the prospective parents, and assists them in deciding what action is appropriate.4  If the woman already is pregnant, the genetic counselor may advise amniocentesis, depending on the severity of the genetic defect and the risk of its recurrence. Amniocentesis is also used to monitor the pregnancy of a couple known to be at risk for a particular genetic defect.5

Genetic counseling not only predicts the risk of disease for a specific couple, but it also may apply to relatives and future offspring of the couple seeking advice. The genetic counselor arrives at a prognosis through information derived from an extensive family history, diagnosis, and knowledge of genetic principles.6  Taking the family history involves constructing a pedigree and listing the patient’s near relatives by sex, age, and state of health, with particular reference to the occurrence of relevant diseases in the family.7

Accurate diagnosis of the potential disease is essential; various genetic diseases often share symptoms but occur because of differing factors, factors that specifically affect risk and probability. For example, some forms of muscular dystrophy have similar manifestations, but the modes of inheritance are entirely different. An individual afflicted with the facioscapulonumeral form can transmit the disorder to 50 percent of his or her children, while the limb-girdle variety is transmitted only if the affected person’s mate carries the same defective gene.8

The degree of risk attached to a particular genetic disease depends upon the mode of inheritance. The random risk of any pregnancy’s resulting in a defective child is one in 30.9  Generally, the more definite and clear-cut the genetics, the greater the accuracy of a prognosis.

Genetic counselors recognize three categories of risk.10

1) Random risk is when the chance of recurrence is little more than the risk for any pregnancy in the population at large. These situations generally result from environmental conditions and are not likely to recur in future pregnancies. Examples include defects resulting from maternal rubella, toxoplasmosis, or ingestion of a teratogenic drug such as thalidomide.

2) High risk is when the chance of recurrence is at least one in 10 and more often one in four. The majority of such instances are due to mutant genes; a minority are due to chromosomal aberrations in which a parent has a similar anomaly. Examples of the latter include D/G translocation Down’s syndrome, polydactyly, or achondroplasia.

3) Moderate risk is when the chance of recurrence is less than one in 10 but greater than the random risk of one in 30. This is the largest group and is composed of fairly common conditions. Risk estimates in this group are empirical; that is, they are based not on genetic theory, but on experience and observation of frequency of occurrence. Diseases in this category are caused by environment as well as inherited predisposition. Examples include congenital dislocation of the hip, clubfoot, cleft lip, cleft palate, and central nervous system malformations such as anencephaly, spina bifida, and hydrocephalus.

After evaluating the risk of recurrence of a genetic disease, the genetic counselor should communicate the diagnosis and associated risk in a non-directive manner to the patient. The failure to exercise due care in such counseling (for example, providing the patient with erroneous information) may result in legal liability.

Case illustration. In June 1969, a patient gave birth to a baby who lived for only five hours. The cause of death was polycystic kidney disease. A substantial probability exists that any future baby of the same parents will be born with it. The patient asked her physician if there was any risk of a subsequent child being born with the same affliction. The physician responded that the chances of having another baby with polycystic kidney disease were "practically nil", because the disease was not hereditary. The patient and her husband relied on this advice and gave birth to another baby in July 1970. This baby, too, was born with polycystic kidney disease and lived about two and one-half years before dying.

The patient sued the physician on behalf of the child for wrongful life, alleging that the infant suffered the damage of having been born in a defective condition that rendered it susceptible to the pain, suffering, and eventual death associated with polycystic kidney disease. The patient also sued the physician for the damages he had inflicted on her in the form of the mental suffering and the medical costs incurred in treating the infant. The court rejected the wrongful life cause of action but recognized the patient’s right to seek recovery for the sums expended for the care and treatment of her child until the child’s death, because the court recognized that such damages were both ascertainable and the result of a breach of the duty owed by the physician to the patient. Park v. Chessin, 46 N.Y.2d 401, 413 N.Y.S.2d 895; 386 N.E.2d 807 (1978).

Few cases involving preconception genetic counseling have been reported. This may be due to the fact that genetic counseling is a relatively new field and that preconception counseling is available on a relatively limited basis. As the field grows and, perhaps, as the public places greater reliance on physicians for genetic counseling, the incidence of cases such as the one illustrated here may increase. The following excerpt from the intermediate appellate opinion in the same case explains the legal perception of such a case:

"No new duty is imposed on any physician in these circumstances; rather, validating the parents’ cause of action in the…case merely extends to a physician a pre-existing duty widely recognized in numerous fields of classic tort law, that one may not speak without prudence or due care when one has a duty to speak, knows that the other party intends to rely on what is imparted, and does, in fact, so rely to his detriment. The injuries that flow therefrom include the economic injuries represented by provable medical and support expenses incurred during the lifetime of the child." Park v. Chessin, supra.

A later Michigan Court of Appeals decision reinforces this statement. In Dorlin v. Providence Hospital, 18 Mich. App 831, 325 N.W.2d 600 (1982), the patient was diagnosed as a sickle-cell anemia carrier but was not informed of the consequences of such a diagnosis. When the patient gave birth to a daughter suffering from sickle-cell anemia, she brought suit. The court denied recovery because the suit was not brought within the period required by the statute of limitations, but stated that familiar legal principles govern such a case when brought in a timely manner.

Medical science has progressed significantly in controlling diseases caused by nutritional deficiency and infection. This has provided a new perspective for diseases in which genetic factors predominate. With the eradication of other threats to neonatal health, physicians have begun to devote greater attention to genetic defects. At present, more than half of the infant mortality rate is attributed to congenital malformations.11  Further, new technologies for the identification, treatment, and control of hereditary defects are being developed. The young field of genetic counseling is experiencing an accelerated growth and a developing recognition by the public of its potential. In 1951, only 10 genetic counseling centers existed in the United States. By 1961, the number of centers had increased to 25.. In 1974, just 13 years later, 400 genetic counseling centers were in operation.12  It is likely, therefore, that the public’s expectations of the genetic counselor will increase with the passage of time. Accordingly, when less than expert counseling is provided, patients become victims, and those victims will seek restitution through legal channels.

Genetic Screening

In genetic screening, liability may be imposed on a physician for failing to make a correct diagnosis, failing to obtain informed consent to the screening procedure, failing to disclose test results to the person screened, and making an unauthorized disclosure of results to persons other than the person screened.

Basic standard of care. The American College of Obstetricians and Gynecologists recognizes that genetic screening attempts the prospective prevention of genetic disease, a goal thought to be attainable in cases where:

1) the disease occurs predominantly in a defined population;

2) carriers can be identified simply and accurately; or

3) the disease can be detected in utero early in pregnancy.

In addition to these criteria, the mode of inheritance should be known if meaningful genetic counseling is to be undertaken.13

Interpretation and customary practice. Genetic screening identifies particular population groups at risk for certain genetic anomalies or diseases and tests for them. The more prevalent genetic anomalies include Tay-Sach’s disease, which most commonly afflicts Ashkenazic Jews, sickle-cell anemia, which occurs most commonly in the black population, and phenylketonuria (PKU), which is not population-specific but which can be identified in newborns. A majority of states have enacted testing programs designed to identify children with PKU early enough to treat the disease and save them from accompanying mental disorders.14  Screening programs for sickle-cell anemia also have been established. Unlike PKU, however, sickle-cell anemia is a hereditary disorder that cannot be treated; it can be eliminated only if carriers do not marry or if they marry but do not bear children. Thus, screening programs for sickle-cell anemia are designed to identify and warn carriers of the risk of bearing children with an incurable genetic disease.

In May 1972, Congress enacted the National Sickle-Cell Anemia Control Act, 86 Stat. 136 (codified in scattered sections of 42, 33 U.S.C. Supp. 11, 1972) which provides for the establishment and operation of screening and counseling programs and the development and dissemination of relevant information to health care providers and the public at large. A number of states also have passed laws relating to sickle-cell anemia.15

In contrast to the federal law, some of these states make participation in such screening programs mandatory for certain classifications of people.16  The laws have been written in a manner that avoids specific racial classification, while ensuring that those groups most likely to be affected are tested. Illinois, for example, allows school authorities, when they deem it necessary, to require sickle-cell screening as part of those health examinations required of all students.17

California empowers its health department to require a test for "any identifiable segment of the population" that the department determines is disproportionately susceptible to sickle-cell anemia.18  Similarly, Massachusetts requires tests for all school children whom the public health commissioner determines are "susceptible to the disease known as sickle-cell anemia."19  Other states have instituted programs based on voluntary participation and the cooperation of individual citizens.20  Several states have enacted laws providing for sickle-cell testing prior to marriage.21  In some states, participation is voluntary,22  while in others it is mandatory. New York, for example, requires a test for a marriage license applicant who is not of the "Caucasian, Indian or Oriental race." However, the application cannot be denied "solely on the basis of a positive test result (no explanation is given for the use of the word "solely", nor are any additional criteria or denial provided), not is lack of a test grounds for invalidating a marriage.23  Georgia has set up a program for mandatory testing of infants.24

Several commentators argue that no real public health justification exists for mass screening for sickle-cell anemia, because neither the disease itself nor the genetic trait is contagious, and the disease is not treatable.25  Thus, the laws would not enable individuals afflicted with the disease to seek treatment for it, nor would they protect the public at large. Because misunderstanding may surround the sickle-cell trait, it is argued that such programs publicly identify victims, thereby subjecting them to serious prejudice and stigmatization. For example, airline employees identified as possessing the trait at one time were grounded because of uninformed fears that, if the plane depressurized, they would go into a sickling crisis; insurance companies charged sickle-cell carriers higher premiums; and the armed forces considered deferment of carriers, closing off valuable job opportunities.26  Further, because the rationale for mass screening programs is to identify carriers and dissuade them from either marrying each other or having children, the black population has been skeptical of programs that it perceives as the first step toward reproductive control of the race.

No court has yet dealt with the issue of the liability of physicians for malpractice with respect to screening programs themselves, although cases have been brought regarding a physician’s failure to diagnose PKU in small children. Where a physician negligently fails to diagnose the condition, thereby delaying necessary treatment to the patient’s detriment, damages may be assessed against the physician. Naccarto v. Grob, 384 Mich. 248, 180 N.W.2d 788 (1970); Lewis v. Owen, 305 F.2d 537 (10^th Cir. 1968).

A number of commentators have addressed the issue of legal liability with respect to genetic screening.27  Professor Jon R. Waltz has set forth four areas in which problems are most likely to arise:

1) professional negligence, including incorrect diagnosis;

2) failure to obtain informed consent to the screening procedure;

3) failure to disclose the results of screening; and

4) unauthorized disclosure of screening results to persons other than the person screened.28

The first of these problems is not likely to occur very often, nor is it likely to be very serious, given the uncomplicated procedures used in genetic testing. As Waltz notes, "There is a limit to how much can go wrong during a simple blood test to determine whether a person has the recessive trait for such diseases as sickle-cell anemia or Tay-Sachs."29  Further, physicians can accurately diagnose the likelihood of a defective child based on the results of blood tests. However, should a physician make a faulty diagnosis prior to pregnancy and a defective child is born, some law exists to indicate the physician may be liable for damages. In a related case, the court held a physician liable for incorrectly interpreting the results of amniocentesis, where the physician represented the test to be foolproof, and a defective child was born. Gildiner v. Thomas Jefferson University Hospital, 451 F. Supp. 692 (E.D. Pa. 1978). In other cases, physicians have been held liable for failing to inform a patient, at risk for conceiving a genetically defective child, of the availability of amniocentesis.30  The reasoning in some of these cases may be applicable in cases of negligence in genetic screening.

The confidentiality problem (unauthorized disclosure of results) may occur in two areas. One involves disclosure of results with respect to a particular person; the other involves disclosure of results for research and statistical purposes that incidentally reveals particular information about particular persons. As discussed above with respect to testing for sickle-cell anemia, such revelations may result in serious problems for the individuals involved. As with most of the issues in this field, answers to the knotty confidentiality problems inherent in genetic screening and counseling are neither clear nor easily ascertainable. Just as much of tort law may be carried over from other areas of medical malpractice, so will the law respecting the right of privacy, confidentiality, and defamation form the basis for future decisions in this particular area.

Notes:

1. Council on Scientific Affairs of the American Medical Association, Genetic Counseling and Prevention of Birth Defects, 248 J.A.M.A. 221 (July 9, 1982); see also McCormack, Medical Genetics in Family Practice, 20 AM. FAM. PHYSICIAN 142-151 (1979).
2. F. Fraser, Genetic Counseling, 26 AM. J. HUMAN GENETICS 636 (1974).
3. Simpson, The Prenatal Diagnosis of Genetic Disorders, 25:4 CLIN, OBSTET-GYNECOL. 635 (1982); J. Nora & F. Fraser, MEDICAL GENETICS: PRINCIPLES AND PRACTICE 351 (1974); L. Whaley, UNDERSTANDING INHERITED DISORDERS 180 (1974).
4. J. Nora & F. Fraser, supra note 3; R. Engen, CHROMOSOME DIAGNOSTICS IN CLINCIAL MEDICINE 150 (1965).
5. J. Nora & F. Fraser, supra note 3, at 261.
6. L. Whaley, supra note 3, at 182; American College of Obstetricians and Gynecologists, STANDARDS FOR OBSTETRIC/GYNECOLOGIC SERVICES 50, 51 (5^th ed. 1982).
7. J. Nora & F. Fraser, supra note 3, at 352.
8. L. Whaley, supra note 3, at 352.
9. J. Roberts, AN INTRODUCTION TO MEDICAL GENETICS, Ch. 12 (5^th ed. 1970).
10. Id.
11. L. Whaley, supra note 3, at 178.
12. Hermann & Optiz, Genetic Counseling, 67 POSTGRAD. MED. 233 (1980).
13. American College of Obstetricians and Gynecologists, Technical Bulletin No. 34 (January 1970).
14. Mich. Dept. of Public Health, Maternal and Child Health Division, Phenylketonuria—General Information, Children’s Bureau Pub. No. 419 (1964).
15. See, e.g., Cal. Health & Safety Code § 325-327 (West Supp. 1980); Ill. Ann. Stat. ch. 122 § 27-8.1 (Smith-Hurd Supp. 1979); Va. Code Ann. §§32.1-68 and 69 (Supp. 1980); N.Y. Educ. Law §904 (McKinney Supp. 1980); Mass. Gen. Laws Ann ch. 76 §15A (Supp. 1980); Miss. Code Ann. §§41-24-1 to 24-5 (Supp. 1980).
16. See, e.g., Cal. Health & Safety Code §325 (West Supp. 1981); Ill. Rev. Stat. ch. 40 §204 (Smith-Hurd 1980); Mass. Gen. Laws Ann. ch 76 §15A (West Supp. 1980); N.Y. Dom. Rel. Law §13-aa (McKinney Supp. 1980).
17. Ill. Ann. Stat. ch. 122 §27-8.1 (Smith-Hurd Supp. 1979).
18. Cal. Health & Safety Code §326 (West Supp. 1980).
19. Mass. Gen. Laws Ann. ch. 76 §15A (Supp. 1980); see also, Miss. Code Ann. §41-24-3 (Supp. 1980).
20. See, e.g., Va. Code Ann. §32.1-68 and 69 (Supp. 1980).
21. See e.g., Cal. Health & Safety Code §325 (West Supp. 1980); Ga. Code Ann. §53-216 (Supp. 1980); Ill. Rev. Stat. ch. 40 §204 (Smith-Hurd 1980); Mass. Gen. Laws Ann. ch. 76 §15A (West Supp. 1980); N.Y. Dom. Rev. Law §13-aa (McKinney Supp. 1980).
22. See e.g., Cal. Health & Safety Code §325 (West Supp. 1980); Ga. Code Ann. §53-216 (Supp. 1980); Ill. Rev. Stat. ch. 40 §204 (Smith-Hurd Supp. 1980).
23. N.Y. Dom. Rel. Law §13-aa (McKinney Supp. 1980).
24. Ga. Code Ann. §88-1201.1 (Supp. 1980).
25. Waltz & Thigpen, Genetic Screening and Counseling: The Legal and Ethical Issues, 68 NW U.L.R. 696 (1973); P. Reilly, Genetics, Law and Social Policy 70 (1977).
26. P. Reilly, id, at 74; see also, Comment, The Constitutionality of Mandatory Genetic Screening Statutes, 31 CASE W. RES. L. REV. 897 (1980-1981).
27. Waltz & Thigpen, supra note 25; M. Shaw, The Potential Plaintiff Preconception and Prenatal Torts, in II GENETICS AND THE LAW 48 (1980); J. Waltz, The Liability of Physicians and Associated Personnel for Malpractice in Genetic Screening, in I GENETICS AND THE LAW 39 (1975).
28. Waltz & Thigpen, supra note 25, at 140.
29. Id.
30. See also, Jackson, Guidelines for Amniocentesis and Genetic Counseling, 85:6 PENN. MED. 35 (1982).