American Journal of Law & Medicine

Cost containment and reproductive autonomy: prenatal genetic screening and the American Health Security Act of 1993.

I. INTRODUCTION

Prenatal genetic diagnosis represents one of the most important recent advances in the field of clinical genetics. Each year in the United States, a significant number of children are born with some type of hereditary genetic defect that can be diagnosed in utero.(1) Of the over 4000 genetic traits which have been distinguished to date, more than 300 are identifiable via prenatal genetic testing.(2) With increasing frequency, various diagnostic procedures are being used to evaluate the probability that a fetus will be born with a serious physical or mental handicap caused by a genetic abnormality. These procedures identify disabling or potentially fatal genetic disorders, including cystic fibrosis,(3) trisomy 21 (Down syndrome),(4) [beta]-Thalassemia,(5) and neural tube defects (NTDs).(6)

Prenatal diagnosis may be achieved by utilizing one or more techniques from three basic methods of testing.(7) The most commonly performed means, amniocentesis,(8) is a procedure in which a small sample of the fluid surrounding the developing fetus is extracted from the amniotic sac.(9) The fluid, which contains cells from the fetus, may be analyzed after removal to determine fetal sex as well as to locate specific genetic abnormalities. Although utilization of amniocentesis at earlier stages of gestation has been investigated,(10) the procedure is usually not performed until the sixteenth week of pregnancy.(11) Test results are generally available within two weeks, though in some instances the wait may be as long as four weeks.(12)

Amniocentesis is rapidly being replaced by another form of fetal tissue extraction, chorionic villi sampling (CVS).(13) CVS involves transcervical or transabdominal insertion of a catheter to an area of placental development, where a small sample of placental tissue is removed by aspiration.14 The advantage of CVS is that it can be performed as early as nine weeks into the pregnancy.(15) Moreover, because test results are usually available within two or three days, CVS allows first-trimester diagnosis of any identifiable chromosomal abnormalities or genetic diseases.(16)

The third method of prenatal diagnosis is maternal serum alpha-fetoprotein sampling. Unlike amniocentesis and CVS, which are physically invasive procedures, alpha-fetoprotein sampling merely requires the woman to undergo a blood test.(17) High or low concentrations of alpha-fetoprotein(18) in the mother's blood may indicate a risk of fetal genetic abnormality.(19) The usefulness of alpha-fetoprotein sampling is currently limited to the diagnosis of neural tube defects, although recent studies have indicated that low concentrations may be associated with increased risk for Down syndrome.(20) Moreover, significant numbers of false positives have been known to occur, thereby necessitating additional diagnostic tests.(21)

The impact of genetic disease "in terms of social, emotional, and financial costs is usually greater than that of other [non-genetic] illness."(22) Nevertheless, and despite rapid advances in genetic technologies, "genetics simply has not become an integral part of the public health scene in the United States."(23) This is in large part evidenced by the fact that the federal budget for genetic service programs has remained unchanged since 1981.(24) In fact, in 1981, following the repeal of the Genetic Diseases Act of 1976,(25) federal funding for genetic services was reduced approximately forty-seven percent.(26) Such policy choices have effectively limited access to prenatal screening services to individuals who are primarily white, middle class, and well-educated.(27)

Limited access to prenatal screening services is not entirely the result of governmental budget decisions. The inability of many individuals to obtain health insurance also plays a large role in determining who has access to reproductive technologies. The number of uninsured Americans, among them persons who might benefit from the "new reproductive technologies," continues to grow at an alarming rate. By recent estimates, 38.5 million people, upwards of fourteen percent of the population of the United States, are without public or private health insurance.(28) In some regions of the country, this figure translates into one out of every four individuals.(29) Though persons affected by genetic disease are often among the class of individuals who most need medical insurance, they are least likely to be able to obtain it. A 1988 survey conducted by the National Commission on Orphan Diseases revealed that in nearly half of the cases studied, the existence of a hereditary disorder caused the patient or caregiver relative financial hardship, due in part to inadequate medical insurance.(30) Coupled with reductions in federal funding for genetic services, the lack of comprehensive health insurance suggests that many who may benefit from genetic screening services are without financial access to it.

On October 27, 1993, President Clinton formally introduced to Congress his administration's plan to provide the nation with universal health insurance coverage. If enacted into law, the Health Security Act ("Act")(31) promises to restructure the delivery of health care in the United States. The plan in many ways attempts to redefine the way Americans conceive of health, disease, and the provision of basic health care. The driving force behind the Act is a series of mechanisms designed to reduce unnecessary health costs by placing a greater emphasis on preventive medicine, by creating incentives for individual cost-conscious choice, and by revising standards and guidelines for medical practice as part of a national malpractice reform plan.

Around the same time the Health Security Act was introduced a number of competing health care reform plans were offered before Congress.(32) Like the Health Security Act, each plan proposes a significant reorganization of the existing health care system. The creation of a coherent national health plan provides new opportunities for integrating genetic screening services into mainstream American health care. However, each opportunity also provides occasion for unintended abuses which could have the effect of seriously impairing individual rights. This Note focuses on the Health Security Act as a useful model for discussing the potential benefits and pitfalls associated with the incorporation of prenatal genetic services into a system providing universal access to health care. The Note will also examine two competing reform bills, the "Health Equity and Access Reform Today Act of 1993"(33) and a modified version of the Health Security Act.(34) Regardless of the ultimate fate of the President's reform plan,(35) the analysis that follows is relevant to the extent that it addresses the economic and ethical considerations related to integrating prenatal genetic services into a reformed health care system.

This Note argues that prenatal genetic screening services should play a role in the program of basic health services to be provided under the Health Security Act or any other national health care plan. The task of providing genetic services to the general population is, however, far from easy. Part Il of this Note addresses some of the fundamental legal and ethical concerns reflected in the contemporary debate surrounding genetic technologies by discussing possible justifications for prenatal diagnostic services. These justifications are, to a significant degree, mirrored in the goals and purposes of the Health Security Act and competing reform plans. Part Ill takes a critical look at the specific services offered as part of the universal basic benefits package under each reform plan and examines whether and in what ways each plan exacerbates the legal and ethical dilemmas which inhere in providing these services on a national level. Part IV of the Note examines proposals for the creation of national medical standards designed to reform medical malpractice liability, suggesting that practice guidelines subvert the policies underlying reform and threaten rights to individual self-determination and informed, autonomous consent. Finally, Part V of the Note outlines a number of recommendations which should be followed if prenatal genetic screening services are integrated into a basic benefits package provided to all Americans as part of a national health care plan.

II. THE HEALTH SECURITY ACT AND JUSTIFICATIONS FOR PRENATAL GENETIC SCREENING SERVICES

The Health Security Act is premised upon a set of ethical foundations which "reflect fundamental national beliefs about community, equality, justice and liberty."(36) These principles manifest themselves in the primary objectives of the Act. They are also to a significant degree reflected in both the Health Equity and Access Reform Today Act of 1993 and Senator Mitchell's modified Health Security Act. The Act is intended to guarantee universal entitlement to "comprehensive and secure health care coverage,"(37) to "control the cost of health care,"(38) to "promote individual choice,"(39) and to "ensure high quality health care"(40) for all Americans. Similar purposes, effective and informed choice, cost containment, and preventive care, are often used to support plans for integrating prenatal genetic screening programs into mainstream health care.

A. CONSUMER CHOICE AND AUTONOMY

Under the Health Security Act, each consumer of health care is entitled to exercise effective choice with respect to available treatments.(41) Prenatal genetic screening services are often justified on the grounds that they foster reproductive choice and individual autonomy.(42) Prenatal genetic screening encourages effective choice by augmenting the number of reproductive options available to individuals(43) who are bearing or who have considered bearing children. By increasing the amount of information available during pregnancy, prenatal diagnosis provides individuals the opportunity to make more informed decisions regarding childbirth. A diagnosis may be made early enough to allow a woman who is carrying an affected fetus the opportunity to terminate the pregnancy safely within the first trimester.(44) Prenatal diagnosis also affords the parent of an affected fetus who does not wish to abort the chance to prepare for the birth of a child with very special needs. This may include arranging to meet the financial demands that attending to the child's disorder will undoubtedly place on the parent(s).(45) It May also give the parent and other family members time to familiarize themselves with the nature of the disease and the special emotional and medical needs associated with caring for an afflicted child.

In a sense, prenatal diagnosis enables parents to fulfill their personal expectations with respect to raising a healthy family.(46) This is especially true for parents who have a known risk of bearing a child with an inherited disorder and who might otherwise decide to forego having children.(47) The average couple with a known genetic risk "may convert a statement of risk ... into a binary statement (either it will or will not happen). They then may visualize the worst outcome."(48) However, prenatal diagnosis "converts a probability statement ... into a statement of fact that the fetus has the disease, or it does not."(49) To the extent that a diagnosis precludes an adverse outcome, the opportunities provided by prenatal screening may thus be viewed as "pro-life."(50)

B. COST CONTAINMENT

Cost reduction, the driving force behind the Health Security Act's plan to provide equal access to quality care,(51) may also justify furnishing prenatal genetic screening services to a greater segment of the population. The costs associated with raising and caring for a child affected with an inherited disease can be very high. As a result, they "constitute a major burden for patients and their families and have an effect on the health care delivery system that is disproportionate to the absolute numbers of patients" affected with a serious hereditary disease.(52) For example, over forty percent of the more than 15,000 persons affected with cystic fibrosis require expensive hospitalization for at least a week or more each year.(53) Medical costs for children affected with spina bifida may reach well over $80,000 for the first year of life alone.(54) The cost of caring for a single child with Down syndrome is estimated to be in excess of $500,000.(55)

Compared to these costs, the expense of undergoing prenatal screening is very small. For example, a woman undergoing an amniocentesis can expect to pay somewhere in the area of $1000 for the test.(56) In fact, research has demonstrated that programs incorporating prenatal diagnosis have been highly cost-effective in reducing the financial burdens accompanying the birth of a child born with a serious hereditary disease.(57) These studies indicate that the financial outlays for administering screening programs and performing abortions when a fetus is found to be affected are less than the amount which would be spent caring for affected children. …

Log in to your account to read this article – and millions more.