To the Editor: Clayton's description of the case of Sierra Creasonmisrepresents the facts (Aug. 7 issue).1 The thyroid valueswere not "abnormally low." Thousands of unaffected newbornshad the same negative results. The case was not one of congenitalhypothyroidism, but rather one of hypopituitarism with multiplemedical problems. Although the case was defensible on medicalgrounds, the Attorney General's office decided that newbornscreening was such an important public health policy that thestate should be protected from suits for discretionary, non-negligentscreening decisions. The decision was just, ethical, and inthe public's interest.
George Cunningham, M.D., M.P.H. California Department of Health Services Richmond, CA 94804
References
Clayton EW. Ethical, legal, and social implications of genomic medicine. N Engl J Med 2003;349:562-569. [Free Full Text]
To the Editor: Clayton states that advisory bodies say "no" to the disclosure of a patient's genetic information to relatives,but many do allow such disclosure to benefit relatives underconditions short of "a last resort."1,2 Furthermore, geneticistscan favor such disclosure, even without the patient's consentand despite the patient's refusal.3 And there are earlier casesthat address such a duty to disclose.4,5 Although court decisionsrecognize a duty to disclose genetic information to relatives,the requirement for disclosure is quite low.1,2 The court inSafer v. Pack required "reasonable steps," and the court inPate v. Threlkel required only that the patient be informedof the genetic nature of the disease.
Although obtaining a patient's consent to disclose genetic informationto relatives can obviate many of the legal and ethical problemsof genetic privacy, patients can deny disclosure for both trivialand substantial reasons.1,2 Furthermore, relatives may not wantto know of their genetic propensity for disease and could suethe physician who discloses the information for invasion ofprivacy, an additional risk of this "least risky option."1,2
Leonard J. Deftos, M.D., J.D. San Diego Veterans Affairs Medical Center San Diego, CA 92161 ljdeftos{at}ucsd.edu
References
Deftos LJ. Genomic torts: the law of the future -- the duty of physicians to disclose the presence of a genetic disease to the relatives of their patients with the disease. Univ San Francisco Law Rev 1997;32:105-137. [Medline]
Deftos LJ. The evolving duty to disclose the presence of genetic disease to relatives. Acad Med 1998;73:962-968. [Medline]
Wertz DC, Fletcher JC. An international survey of attitudes of medical geneticists toward mass screening and access to results. Public Health Rep 1989;104:35-44. [Web of Science]
Schroeder v. Perkel, 87 N.J. 53 (N.J., 1881).
Olson v. Children's Home Society of California, 204 Cal. App. 3d 1362 (CA. 1988).
To the Editor: As the rationale for "creating the necessarylegislative and regulatory responses" to genetic discrimination,Clayton offers only the popular misperception that people "tendto see genetic information as more definitive and predictivethan other types of data." But as she herself concedes, geneticinformation is in fact much less definitive and predictive thanknowledge of an established disease process. This reality isreflected in the consistent finding that purely genetic discriminationin employment and insurance is so rare as to be undetectable.1,2Moreover, Plantinga et al.3 found that once patients are specificallyquestioned on the subject, they have very similar attitudesabout the confidentiality of genetic and nongenetic information.
It is becoming increasingly apparent that the current policyfocus on genetic discrimination is artificial and arbitrary.Those who advocate legislative "solutions" have been unableto articulate convincingly the problem that they seek to correct.As genomics becomes integrated into mainstream medicine, perhapsthe utility of genetic discrimination as a distinct entity oughtto be reexamined.
William J. Nowlan, M.D. National Life Insurance Company Montpelier, VT 05604 wnowlan{at}nationallife.com
References
Hall MA, Rich SS. Laws restricting health insurers' use of genetic information: impact of genetic discrimination. Am J Hum Genet 2000;66:293-307. [CrossRef][Web of Science][Medline]
Armstrong K, Weber B, FitzGerald G, et al. Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination. Am J Med Genet 2003;120:359-364. [CrossRef]
Plantinga L, Natowicz MR, Kass NE, Hull SC, Gostin LO, Faden RR. Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions. Am J Med Genet 2003;119:51-59.
Dr. Clayton replies: When Sierra Creason was born, California'snewborn screening program, which Dr. Cunningham directs, didnot report actual test values, as commercial and hospital laboratorieswould have done, and reported as "unproblematic" the low levelsof thyroxine and thyrotropin that should have led her physiciansto pursue further evaluation for hypothyroidism. According tothe California Supreme Court, "During his deposition, Dr. Cunninghamadmitted that the `Negative' test report for plaintiff Sierrainaccurately purported to cover potential `congenital hypothyroidism,'rather than `primary' congenital hypothyroidism."1 Prompt diagnosisof Sierra's secondary but nonetheless congenital hypothyroidism,a part of her hypopituitarism, might not have ameliorated allher medical problems, but those issues should have been subjectto proof at trial.
In response to Dr. Deftos, most advisory groups concur withthe President's Commission for the Study of Ethical Problemsin Medicine and Biomedical and Behavioral Research in concludingthat patients' confidentiality should almost always be respected.The commission states that it is permissible to warn relativesof genetic risks
only if . . . (1) reasonable efforts to elicit voluntary consentto disclosure have failed; (2) there is a high probability boththat harm will occur if the information is withheld and thatthe disclosed information will actually be used to avert harm;(3) the harm that identifiable individuals would suffer is serious;and (4) appropriate precautions are taken to ensure that onlythe genetic information needed for diagnosis and/or treatmentof the disease in question is disclosed.2
Clinicians understandably view the Safer v. Pack and Pate v.Threlkel cases, which I have argued were wrongly decided,3 asmore onerous than Dr. Deftos suggests. Unlike Dr. Deftos, Ibelieve that patients will usually share information, givenenough time and support. Finally, if a physician gave the relativeof a patient information about a serious but avertable riskand that information saved the relative's life, it is hard tobelieve that a jury would be sympathetic if the relative thensued for invasion of privacy.
The data regarding the incidence of genetic discrimination arenot as unequivocal as Dr. Nowlan suggests.4 Patients' fear ofdiscrimination dramatically affects their willingness to seekgenetic services. Dr. Nowlan is appropriately concerned withgenetic exceptionalism. His desire to reexamine "the utilityof genetic discrimination as a distinct entity" is consistentwith my argument that even when genetic variations do exist,deciding whether they should affect access to social goods inevitablyrequires competing social values to be weighed.
Ellen Wright Clayton, M.D., J.D. Vanderbilt University Nashville,TN 37232-0165
References
Creason v. State Department of Health Services, 957 P.2d 1323 (Cal. 1998).
President's Commission for the Study of Ethical Problems in Medicine and Biochemical and Behavioral Research, Screening and Counseling for Genetic Conditions. The ethical, social, and legal implications of genetic screening, counseling, and education programs. Washington, D.C.: Government Printing Office, 1983:43-4.
Clayton EW. What should the law say about disclosure of genetic information to relatives? J Health Care Law Policy 1998;1:373-90.
Silvers S, Stein MA. An equality paradigm for preventing genetic discrimination. Vanderbilt Law Rev 2002;55:1341-1395. [Medline]
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