Contesting Consent: The Challenge to Compulsory Neonatal Screening for PKU

CONTESTING CONSENT: THE CHALLENGE TO COMPULSORY NEONATAL SCREENING FOR PKU DIANE PAULIn 1994, a committee of the Institute of Medicine (IOM) recommended that "no genetic test should be done without the consent of the persons being tested or, in the case of newborns, the consent of their parents" [I]. That opinion might seem uncontroversial, even banal. The desirability of informed consent for medical interventions, especially in respect to genetics (with its link to reproductive decision-making), is today taken for granted by most bioethicists. The importance attached to consent in this domain is reflected in the federal law providing for assistance in the establishment and operation of genetic testing and counseling programs, which mandates that participation in such programs be "wholly voluntary" [2]. However, voluntarism in respect to screening of newborns is hardly the norm. Although a committee of the National Academy of Sciences (NAS) recommended in 1975 that participation in any neonatal genetic screening program should be at the discretion of the parents or legal guardian, obtaining explicit consent has never been and is not now standard pediatric practice. The NAS committee found that parents were rarely provided the opportunity to consent to or even refuse testing; if they were informed of the test at all, it was often after the blood sample had been taken [3] . In Maryland, where explicit informed consent has been required since 1976, a 1982 study found that many physicians were unaware of the requirement; when told, 69 percent of chiefs of obstetrics and 78 percent of chiefs of pediatrics disapproved [4] . Today, only two American states require signed informed consent for all screening tests. Although every state and the District of Columbia stipulate The author wishes to thank the National Science Foundation for support of her research on newborn screening under Grant No. SBR-9511909. She is also indebted to Daniel Wikler, Paul Edelson, and Tony Holtzman for very helpful comments on drafts of this paper, and to Harvey Levy for lively conversation and his generosity in sharing information, notwithstanding their differences in perspective on some of the issues discussed in this essay.¦"University of Massachusetts-Boston, Boston, MA 02125.© 1999 by The University of Chicago. All rights reserved. 0031-5982/99/4201-1085$01.00 Perspectives in Biology and Medicine, 42, 2 ¦ Winter 1999 | 207 a parental right of refusal (33 only on religious grounds, and 17 for religious and/or personal reasons), few require that parents be made aware of their rights prior to testing [5]. A 1992 Wisconsin study found that only 22 percent of the parents surveyed knew that they had a right to refuse testing on religious grounds for PKU, galactosemia, maple syrup urine disease , and hypothyroidism (the standard newborn screening battery in Wisconsin ), while only 37 percent knew they could refuse participation for any reason in the experimental screening program for cystic fibrosis (CF) . Indeed, three-quarters of the parents did not even know that CF was included in the screening program [6] . Thus even when parents are in theory allowed some choice, newborn screening is usually de facto mandatory. A critique of current professional thinking and practice was therefore implied by the IOM statement, which provoked some antagonistic responses . For example, theJoint Committee on Professional Practice of the American College of Medical Genetics (ACMG) complained that insisting on fully informed parental consent for low-risk neonatal screening for such disorders as phenylketonuria (PKU) or hypothyroidism "might seriously undermine the overall benefits of such established efforts and unquestionably would greatly increase their costs" [7]. The World Health Organization likewise defends compulsory screening; according to its unofficial guidelines, "societies have an ethical obligation to protect their most vulnerable members, especially if these people cannot protect themselves. Newborns deserve the special protection afforded by mandatory screening for disorders where early diagnosis and treatment favourably affect outcome " [8]. What accounts for this conflict over consent, and why is it so charged? How compelling are the arguments of supporters and opponents? To address these questions, it is necessary to briefly review the history and current status of neonatal screening. Mass screening began in the early 1960s, following adoption of a dietary therapy for PKU and a simple test to detect the...