Testing Children for Genetic Predispositions: Is it in Their Best Interest?

Birch D. , “Genetic Fortune-Telling,” Baltimore Sun, May 9, 1995, at A1.

Tests are also predicted to be available for predispositions to “complex conditions and behaviors,” such as “mental illness, Alzheimer's disease, hyperactivity, heart disease, … and susceptibility to alcoholism, addiction, and even violence,” Some have described those persons who test positive for these conditions as the “pre-symptomatically ill” or the “person ‘at-risk’.” Dreyfuss R.C. Nelkin D. , “The Jurisprudence of Genetics,” Vanderbilt Law Review, 45 (1992): At 318.

According to newspaper reports, the tests cost approximately $800 for the first family member and $250 for each additional member. They are being offered under research protocols to cancer families by at least one biotechnology company. See Kolata G. , “Tests to Assess Risks for Cancer Raising Questions,” New York Times, Mar. 27, 1995, at A1.

See Natowicz M.R. Alper J.S. , “Genetic Screening: Triumphs, Problems, and Controversies,” Journal of Public Health Policy, 12 (1991): At 485.

Kolata , supra note 3, at A9.

See, for example, Sharpe N.F. , letter, “Pre-Symptomatic Testing for Huntington Disease: Is There a Duty to Test Those Under the Age of Eighteen Years?,” American Journal of Medical Genetics, 46 (1993): 250–53.

Pelias M.Z. , “Duty to Disclose in Medical Genetics: A Legal Perspective,” American Journal of Medical Genetics, 39 (1991): At 350.

Kolata , supra note 3.

See, for example, Fost N. , “Genetic Diagnosis and Treatment: Ethical Considerations,” American Journal of Diseases of Children, 147 (1993): 1190–95; Wertz D.C. , “Genetic Testing for Children and Adolescents: Who Decides?,” JAMA, 272 (1994): 875–82; and Harper P.S. Clarke A. , “Viewpoint: Should We Test Children for ‘Adult’ Genetic Disease?,” Lancet, 335 (1990): 1205–06.

American Society of Human Genetics and American College of Medical Genetics, “Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents,” American Journal of Human Genetics, 57 (1995): 1233–41.

Wertz , supra note 9; and Fost , supra note 9.

(1) The predictive genetic testing of children is clearly appropriate where onset of the condition regularly occurs in childhood or there are useful medical interventions that can be offered (for example, diet, medication, surveillance for complications). (2) In contrast, the working party believes that predictive testing for an adult onset disorder should generally not be undertaken if the child is healthy and there are no medical interventions established as useful that can be offered in the event of a positive test result. Clarke A. , Working Party of the Clinical Genetics Society, “The Genetic Testing of Children,” Journal of Medical Genetics, 31 (1994): At 785.

Clarke , supra note 14; but see Harper Clarke , supra note 9.

Institute of Medicine, supra note 14, at 5.

McNeil T.F. , “Psychological Effects of Screening for Somatic Risk: The Swedish Alpha₁-Antitrypsin Experience,” Thorax, 43 (1988): 505–07.

Thelin T. , “Psychological Consequences of Neonatal Screening for Alpha₁-Antitrypsin Deficiency (ATD),” Acta Paediatrica Scandinavica, 74 (1985): 787–93.

Schutt W.H. Isles T.E. , “Protein in Meconium from Meconium Ileus,” Archives of Diseases of Children, 43 (1968): 178–81.

Farrell P.M. Mischler E.H. , “Newborn Screening for Cystic Fibrosis,” Advances in Pediatrics, 39 (1992): At 66.

Holtzman N.A. , “What Drives Neonatal Screening Programs?,” N. Engl. J. Med., 325 (1991): 802–04.

Bradley D.M. , “Experience with Screening Newborns for Duchenne Muscular Dystrophy in Wales,” British Medical Journal, 306 (1993): 357–61.

Wertz , supra note 9; and Clarke , supra note 14.

Wertz , supra note 9, at 878, citing Fanos J.H. , Developmental Consequences for Adulthood of Early Sibling Loss (Ann Arbor: University of Michigan Microfilms, 1987), and Dunn J. , Sisters and Brothers (Cambridge: Harvard University Press, 1985).

Li F.P. , “Recommendations on Predictive Testing for Germ Line p53 Mutations Among Cancer-Prone Individuals,” Journal of the National Cancer Institute, 84 (1992): At 1157–58.

Fost , supra note 9, at 1193.

Id. citing Tluczek A. , “Parents' Knowledge of Neonatal Screening and Response to False-Positive Cystic Fibrosis Screening,” Journal of Developmental and Behavioral Pediatrics, 13 (1992): 181–86.

Ball D. , “Predictive Testing of Adults and Children,” in Clarke A. , ed., Genetic Counselling: Practice and Principles (London: Routledge, 1994): At 70.

Id. at 74.

Wertz , supra note 9, at 876, citing Gabow A. , “Gene Testing in Autosomal Dominant Adult Polycystic Kidney Disease: Results of a National Kidney Foundation Workshop,” American Journal of Kidney Diseases, 13 (1989): 85–87. Also, according to Biesecker et al., the long-term outcome of polycystic kidney disease is not altered by early identification. The impetus for testing individuals for the disease comes primarily from “efforts to identify unaffected living related renal transplant donors at an age where renal ultrasound will not accurately identify all pre-symptomatic carriers; this can result in the identification of carriers for a disease in which early clinical intervention does not alter the course.” The National Kidney Foundation only endorses testing presymptomatically for the disease as part of evaluation for renal transplant donation. Biesecker B.B. , “Genetic Counseling for Families with Inherited Susceptibility to Breast and Ovarian Cancer,” JAMA, 269 (1993): At 1971.

American Society of Human Genetics, supra note 11.

Some argue that certain genetic tests may even replace other costly and inconvenient preventive screening tests currently in use. For example, the genetic test for colon cancer may free some patients from an annual colonoscopy, which can cost as much as $1,000 each per test. Brownlee S. , “Tinkering with Destiny,” U.S. News & World Report, Aug. 22, 1994, at 61.

Currently, high-risk women may enroll in a tamoxifen chemo-prevention trial. This long-term randomized trial will compare the effects of tamoxifen with those of placebo in 16,000 women at increased risk for breast cancer. Lerman C. Croyle R. , “Psychological Issues in Genetic Testing for Breast Cancer Susceptibility,” Archives of Internal Medicine, 154 (1994): 609–17.

Lerman and Croyle point out that “[w]omen at high risk for breast cancer are increasingly seeking counseling about prophylactic mastectomy (PM), and PM has been advocated for selected members of HBC [hereditary breast cancer] families…. The efficacy of PM has yet to be established in controlled trials.” In terms of psychological benefits, they argue that “[p]rophylactic mastectomy may provide important psychological benefits, especially for women in high-risk families. For example, long-term uncertainty and worry might be reduced, as would dependence on screening and self-examination. Prophylactic mastectomy may also reduce the likelihood of experiencing the distress associated with false-positive mammography results.” Id. at 613.

In the case of colon cancer, for example, only about 65 percent of those with the gene will develop the disease. “The Year in Genes,” Discover, Jan. 1994, at 92. For those with the breast cancer gene, the odds are somewhat higher—an 85 percent lifetime risk of developing the disease. Biesecker , supra note 32, at 1970.

National Advisory Council for Human Genome Research, “Statement on Use of DNA Testing for Pre-Symptomatic Identification of Cancer Risk,” JAMA, 271 (1994): 785; and “Statement of the American Society of Human Genetics on Genetic Testing for Breast and Ovarian Cancer Predisposition,” American Journal of Human Genetics, 55 (1994): i–iv.

See, for example, Pelias , supra note 7; and Sharpe , supra note 6.

See, for example, Berman v. Allan, 404 A.2d 8, 15 (N.J. 1979) (court held that parents of a congenitally defective child had a valid claim for compensation for their mental and emotional suffering over the birth of the child when the claim was based on the failure of the expectant mother's doctors to inform the parents of the availability of the diagnostic procedure known as amniocentesis); see also Phillips v. United States, 566 F. Supp. 1 (D.S.C. 1981); and Becker v. Schwartz, 386 N.E.2d 807 (N.Y. 1978). These cases are often referred to as wrongful birth cases.

See, for example, Munro v. Regents of the University of Cal., 263 Cal. Rptr. 878, 882 (Cal. Ct. App. 1989) (doctor did not commit medical malpractice in failing to check whether pregnant woman and her husband were carriers of Tay-Sachs disease, even though the couple's child was later born with Tay-Sachs, when defendants submitted expert evidence that the couple did not meet the profile characteristics necessary to warrant performing a Tay-Sachs carrier screening test); see also Roth v. Group Health Ass'n, Inc., Dkt. No. 88-1005 (D.D.C., settled June 12, 1989) (woman who knew she had a genetic defect in her family sued her doctor and HMO for failing to perform amniocentesis because she was under the age of thirty-five; when her child was born with the defect, she filed a malpractice suit and received a $925,000 settlement).

See, for example, Md. Code Ann., Health-Gen. § 5-613(a) (1994) (if a patient or his agent or surrogate requests that everything be done for a seriously ill patient, including CPR, and the treating physician believes that CPR would be medically ineffective, the physician must inform the patient of the option to transfer the patient to another provider and must assist in that process).

Clayton E.W. , “Removing the Shadow of the Law from the Debate about Genetic Testing of Children,” American Journal of Medical Genetics, 57 (1995): At 630–32.

Pelias , supra note 7.

To be successful in a case based on lack of informed consent, a plaintiff must show that (1) he consented to the test or treatment without the physician revealing all relevant risks, (2) he would not have consented to the test or treatment had he had complete information about the test or treatment, (3) the unrevealed risk did, in fact, materialize, and (4) the plaintiff suffered injury as a result. See, for example, Nickell v. Gonzalez, No. C-830460 (Ohio Ct. App., filed Feb. 22, 1984).

Frantz L.B. , “Modern Status of Views as to General Measure of Physician's Duty to Inform Patient of Risks of Proposed Treatment,” American Law Review 3d, 88 (1978): At 1012–13; (Supp. 1995): At 78. Cases that measure the physician's duty to inform of risks by the customary disclosure practice sometimes specify that the custom must be that of physicians practicing in the community, in the locality, or in the area. Id.

Id. at 1016–20; (Supp. 1995): At 78–79.

Biesecker , supra note 32, at 1972.

See, for example, Maryland Department of Health and Mental Hygiene, “Informed Consent and Agreement to HIV Testing” (Form 95-2) (“If my test is positive, I may experience emotional discomfort and, if my test result becomes known to the community, I may experience discrimination in work, personal relationships, and insurance.”)

See, for example, Wertz , supra note 9, at 878: “Minors who request testing should be informed, before testing, that third parties such as employers, insurers, and schools may be able to coerce their consent for access to test results by withholding employment, insurance, or school admission.”

Kolata , supra note 3, at A9.

Wertz , supra note 9, at 879.

See, for example, Minn. Stat. Ann. §§ 144.341, 144.342 (West 1989).

See, for example, Miss. Code Ann. § 41-41-3(h) (1993).

Some states have enacted legislation protecting from liability those physicians who make a good faith effort to determine that a child/adolescent is mature enough to make a decision. See Miss. Code Ann. § 41-41-5 (1993); N.C. Gen. Stat. § 90-21.4 (1994); and Minn. Stat. Ann. § 144.345 (West 1989).

Such cases are likely to be quite rare. Very little research has been done on adolescents' interest in genetic testing for certain conditions. Nonetheless, one study of high school students' attitudes toward carrier screening for CF found that, although the students were quite receptive to the concepts of carrier screening and prenatal diagnosis, their attitudes changed considerably when confronted with the reality that they might be CF carriers. Levels of indecision increased markedly, and very few students (5/101) wished to be informed of their AF508 carrier status. Page A. , Abstract, “Attitudes of High School Students Toward Carrier Screening for Cystic Fibrosis,” American Journal of Human Genetics, 51 (1992): A17.

See, for example, Cal. Civ. Code § 34.S (West 1975).

Biesecker , supra note 32, at 1973. Researchers went on to say that this issue remains unsettled in protocols for testing Li-Fraumeni family members for the presence of p53 mutations, “despite clinical manifestations in children and adolescents.” Id.

See, for example, Dowling v. Mutual Life Ins. Co., 168 So. 2d 107, 118 (La. Ct. App. 1964) (duty of physician to inform patient that a test revealed the possibility of tuberculosis, despite evidence that the patient was a very apprehensive person, quite fearful of heart or lung trouble); and Ray v. Wagner, 176 N.W.2d 101, 104 (Minn. 1970) (duty of physician to take whatever steps possible to notify patient that results of a pap smear test indicated a possibility that she was suffering from cervical cancer).

Wiggins S. , “Psychological Consequences of Predictive Testing for Huntington's Disease,” N. Engl. J. Med., 327 (1992): 1401–05.

Benjamin C.M. , “Proceed with Care: Direct Predictive Testing for Huntington's Disease,” American Journal of Human Genetics, 55 (1994): 606–17.

Fanos J.H. Johnson J.P. , “Barriers to Carrier Testing for Adult Cystic Fibrosis Sibs: The Importance of Not Knowing,” American Journal of Medical Genetics, 59 (1995): 185–91.

Lerman Croyle , supra note 35, at 610. However, the authors also state that [w]hether breast cancer morbidity and mortality can be reduced through the adoption of prevention and surveillance practices remains an open question. If current prevention trials provide conclusive evidence of efficacy, a more prescriptive approach to counseling high-risk women would be suggested. This approach emphasizes personal risk, as well as options and advice for possible breast cancer prevention and early detection. This is in sharp contrast to genetic counseling for Huntington disease, which emphasizes existential issues surrounding inevitable premature death and employs a nondirective counseling approach to protect a woman's privacy in making reproductive decisions. Id.

“Even when people comprehend the numbers (and many cannot), they find uncertainty psychologically troubling. When confronted with a 50 percent risk, many patients conclude their chances are either zero or 100 percent….” Brownlee , supra note 34, at 63, quoting Biesecker, head of genetic counseling at the National Center for Human Genome Research.

Biesecker , supra note 32, at 1972.

Id. at 1973.

Health care providers have been held liable for encouraging a “preventive” course of action without assuring the accuracy of a test. See Avery v. County of Burke, 660 F.2d 111, 116 (4th Cir. 1981) (court held that fifteen-year-old pregnant woman inaccurately diagnosed with sickle cell trait had a valid cause of action against the clinic for violation of her civil rights by wrongfully causing her sterilization). This case is discussed in Andrews L.B. , “DNA Testing, Banking, and Individual Rights,” in Knoppers B.M. Laberge C.M. , eds., Genetic Screening: From Newborns to DNA Typing (New York: Excerpta Medica, 1990): At 217.

Andrews , supra note 71, at 223.

Id. at 223–26; and Pelias , supra note 7, at 353; see also Annas G.J. , “Privacy Rules for DNA Databanks Protecting Coded ‘Future Diaries’,” JAMA, 270 (1993): At 2350 (stating that “[t]here is legal precedent for holding physicians responsible to recontact patients when the physician learns of a new danger related to previous treatment”).

Tresemer v. Brake, 150 Cal. Rptr. 384 (Cal. Ct. App. 1978).

Nadel A.G. , “Duty of Medical Practitioners to Warn Patient of Subsequently Discovered Danger from Treatment Previously Given,” American Law Review 4th, 12 (1982): 41–45; (Supp. 1995): 4–5.

150 Cal. Rptr. at 392.

Fleischman v. Richardson-Merrell, Inc., 226 A.2d 843 (N.J. Super. Ct. App. Div. 1967).

Id. at 845.

See, for example, Khoury M.J. , “Residential Mobility During Pregnancy: Implications for Environmental Teratogens,” Journal of Clinical Epidemiology, 41 (1988): 15–20 (in the Maryland State Birth Defects Registry Data for 1984, 20 percent of mothers changed their address between pregnancy conception and delivery; this was a cross-sectional socioeconomic group ascertained in order to locate children born with birth defects).

This is in contrast to DNA data banks, which may actually store a DNA sample or have on file a complex genetic profile of an individual. DNA data banks have been established in a number of states, primarily for individuals convicted of sex offenses, but in some states for other serious felonies. See, for example, statutes in Arizona, California, Colorado, Florida, Iowa, Minnesota, Nevada, South Dakota, Virginia, and Washington. These statutes are cited in Shapiro E.D. Weinberg M.L. , “DNA Data Banking: The Dangerous Erosion of Privacy,” Cleveland State Law Review, 38 (1990): At 473.

In 1992, Congress passed the Cancer Registries Amendment Act (42 U.S.C. § 280e (Supp. 1994)). It authorized the CDC to provide funds to states and territories to enhance existing cancer registries, to plan and implement registries where they do not exist, to develop model legislation and regulations for states to enhance viability of registry operations, and to set standards for completeness, timeliness, and quality of data received. The act requires that each applicant provide assurances that it will obtain state authorization to operate a statewide cancer registry, including regulations that “assure complete reporting of cancer cases … to the statewide cancer registry by hospitals … physicians, surgeons, and all other health care practitioners diagnosing or providing treatment for cancer patients.” 42 U.S.C. § 280e(c)(2)(D)(i–ii). Regulations must also address “the protection of the confidentiality of all cancer case data, including a prohibition [of] … the identification of … an individual cancer patient.” 42 U.S.C. § 280e(i)(2)(D)(v).

Annas , supra note 73, at 2349.

Comprehensive Child Immunization Act of 1993, S. 732, 103d Cong., 1st Sess. (1993).

139 Congressional Record S15083 (daily ed. Nov. 4, 1993) (statement of Senator Kassebaum). Senator Kassebaum also stated that “[f]ewer than 60 percent of 2-year-olds in most states are fully immunized, and in some cities, fewer than 10 percent are fully immunized.”

Id. (statement of Senator Helms).

Although federal legislation on this topic did not pass, several state legislatures have enacted legislation establishing an immunization registry designed to track every child's immunization record via a data base. See Tenn. Code Ann. § 37-10-401(c) (1995); Conn. Gen. Stat. Ann. § 19a–7h(a) (West Supp. 1995); and 1995 N.C. Sess. Laws 324.

McNeil , supra note 17; and Thelin , supra note 18.

Wertz , supra note 9, at 880.