Ethical Controversies in Medical Research: The Case of XYY Screening

ETHICAL CONTROVERSIES IN MEDICAL RESEARCH: THE CASE OF XYY SCREENING LORETTA KOPELMAN* The study of the physical correlates of the XYY chromosome pattern in human males has been the subject of widespread scientific and public controversy since Jacobs et al. [1] first reported an association of this karyotype with deviant behavior in 1965. The purpose of this paper is to explore this controversy as an ethical problem involving conflict values about research involving human subjects, and to study the unique problems about consent that XYY research raises. Studies to date have indicated the following: 0.1 percent of all males have the XYY chromosome pattern [2-8]. Twenty-seven males have been identified among the 30,000 newborns studied [2, 4]. Males with the XYY chromosome pattern show some inclination to greater height when compared to XY males [2-5, 7-8]. The frequency of XYY males is four times higher (1:255) in penal institutions [2, 4] and increases 2-4 percent among individuals in penal-mental institutions [2-8]. Disagreements continue among researchers over how to interpret these findings. Some suggest that there is an association between the extra Y chromosome and impulsiveness, and violent, aggressive, or antisocial behavior, but these findings have been questioned [7-8]. Most recently, a Danish study by Witkin et al. [8] challenged earlier studies which found the extra Y chromosome was not associated with lower intelligence. This study attributes the higher rate of criminal conviction of XYY males to their lower intelligence or learning disabilities and not to aggressiveness. Other studies deny that there is evidence to conclude that XYY males are below average in intelligence and seek other explanations for the correlation of the XYY genotype with deviant behavior or incarceration in security institutions [5, 7, 9]. Continuing XYY research serves two important goals. One is the medical interest of learning the behavioral characteristics of specific •Assistant professor, Perinatal Center, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642. I gratefully acknowledge the support of the Commonwealth Fund and the Rochester Plan in preparing this paper.© 1978 by The University of Chicago. 0031-5982/78/2 102-O003$01.00 196 Loretta Kopelman ¦ XYY Screening genotypes, and of preventing or treating abnormal behavior that may be associated with them. Another interest is the study of physical correlates that may be associated with antisocial or criminal behavior and of possibly preventing such behavior [10]. Agencies with such an interest have funded XYY studies, such as the Crime and Delinquency Division of NIMH [11] and the Law Enforcement Assistance Administration [12]. However, questions about the worthiness and ethical justifiability of some ofthe XYY studies have been voiced, the most impassioned attacks being directed to those involving persons, such as infants, unable to give consent for themselves to participate [11-14]. It is argued that some studies place persons at risk of stigmatization, loss of self-esteem, invasion of privacy, and prejudicial treatment. The consent forms and briefing sessions with subjects or their guardians were also the targets of criticism. It is charged they do not provide adequate information about the risks to the subjects [11-14]. Studies of the correlation of the XYY genotype and deviant behavior present unique problems about informing subjects, since the nature and the extent of the risk to the subject are unknown. In short these studies are controversial because on the one hand they serve values which have our approval, the advance of medical knowledge and the study of the causes or prevention of sociopathic behavior, and on the other hand they may be seen as a threat to other important values of privacy and fair treatment of the individual. When there are conflicts of important values it is helpful to begin by exploring areas for agreement in order to determine whether this might lead to some resolution of the conflict. (In this case I believe it will.) The first point of agreement about the XYY screening programs is that they are research studies whose aim is establishing a correlation between XYY karyotype and some specifiable phenotype, whether this be anatomic or behavioral in nature; and second, since there is no accepted treatment for this...