Lethal autonomy: the malfunction of the informed consent mechanism within the context of prenatal diagnosis of genetic variants.

• Author: Dunne, Cara

ABSTRACT: In this article, Cara Dunne and Catherine Warren challenge the current role of genetic counselors in advising expectant mothers about potential genetic defects of their fetuses. They show that genetic counselors sometimes provide one-sided negative information to women undergoing prenatal diagnosis of genetic variants. This biased information promotes abortion of what are considered "defective" fetuses. The misleading information provided by the genetic counselors and the termination of the pregnancies is akin to the eugenics movement. The authors describe the early 20th century eugenics movement, explore the origin and development of the Human Genome Project, analyze the current role of genetic counseling, and explain the importance of the informed consent process to the exercise of autonomy. Dunne and Warren conclude by offering methods by which to restructure the informed consent mechanism to offer a more balanced assessment of the risks and benefits associated with genetic disability.

Genetic Counselor(1): Hello, I am seeking some information for a client and was referred to your foundation. I'm not sure if you can help me. What I really need is information on mortality and morbidity, as well as, some medical statistics.(2)

Phone Volunteer: Does your client have the condition, or has her child been diagnosed with retinoblastoma?

Genetic Counselor: She is pregnant now and there is some family history of retinoblastoma. I am trying to encourage her to get some prenatal testing done. She's seeking some information about the disease, so I needed some statistics.

Phone Volunteer: Statistics? Wouldn't it be better if I spoke to her directly, or asked one of our families to visit or telephone her and share their medical experiences?

Genetic Counselor: Oh, I never actually thought about that--perhaps, later? What I need to know today is how many kids with the condition actually lose one eye?

Phone Volunteer: The primary goal of our organization is to assist and support families in locating the best resources for treatment and rehabilitation. Healthy, cancer-free kids are our objective whether they have lost an eye or not.

Genetic Counselor: But isn't it kind of hard with one eye? I mean, can you drive and all?

Phone Volunteer: A person can adjust to living without one, or even both eyes, if it means surviving cancer.

Genetic Counselor: My God! Both eyes! But, then you would be blind. We do not want to force that choice upon people, it would be taking on so much.

Phone Volunteer: When you've fought a cancer like retinoblastoma, loss of eyesight is trivial. Statistics show that kids with Rb are generally very healthy and have high IQs.

Genetic Counselor: I have heard in some cases a secondary cancer develops which may be even deadlier than the first?

Phone Volunteer: Yes. Interestingly enough, parents who opt to remove the diseased eye without recourse to radiation treatment are much less likely to have their child experience the second cancer. Sacrificing an eye for a life becomes an easy decision.

Genetic Counselor: I wanted some numbers to give her: How many kids lose one eye? How many lose both eyes? How many die before they reach age five? How many get the secondary cancer?

Phone Volunteer: Does this woman know any one who has Rb, or a parent with a child who does?

Genetic Counselor: No, but I've developed a disease description and prognosis for a child born with the genetic condition.

Phone Volunteer: And, do YOU know anyone with the disease?

Genetic Counselor: No, just what I've studied in textbooks. As genetic counselors, we provide clients clinical information about their condition. They are free to make up their own minds, being nondirective is part of our code of ethics.

Phone Volunteer: But, you are being directive by presenting her with merely clinical data. In order to fully understand, she should connect with someone who has been affected by Rb.

Genetic Counselor: I will tell her about the possibility of a high IQ. But cancer is an unpleasant thing, you know. Some people can handle it. Some people may choose not to, and that is their right.

Phone Volunteer: Can I speak with her? She might be encouraged to know that those of us who have experienced all of these symptoms you consider so bleak are living active, positive lives.

Genetic Counselor: I am trained to present an honest picture of a condition that reveals the negative factors. I can tell her to call you if she wants to.

Phone Volunteer: You might want to come to our meetings and meet the people behind the "condition." Are you required to attend disability workshops or to interface with support groups and become well-versed in statutes like the Americans with Disabilities Act (ADA)?

Genetic Counselor: I am not required to, but maybe I will come.(3)

Autonomy at Large

Across the nation, people are engaged in the exercise of a new, more liberating sort of autonomy; conceived within the womb of scientific enterprise and social revolution. It has created a self determinative euphoria, where speech and rhetoric about "rights" have supplanted notions of social responsibility and the collective good of society.

The goal in this article is to convincingly demonstrate that, by restructuring the informed consent mechanism as it functions in the prenatal diagnostic setting, a more balanced assessment of the risks and benefits associated with genetic disability can be achieved. Such an assessment will take the humanistic, social and ethical considerations into account, as opposed to the present system which places emphasis on the raw medical and scientific data. With well-balanced, newly-adjusted informed consent requirements for the genetic counseling process, the number of children eliminated due to misperceptions of their potential and dignity would be greatly decreased.

The potential for eugenic harm can be traced to the misperceptions and mischaracterizations of people with disabilities that transpire within the medical professional-patient discourse such that notions expressed in the dialogue above are becoming the "norm." "The advent of modern technological advances offers humans many opportunities to change life as it has been experienced throughout human history, and raises hopes that such technology ultimately can be used to greatly reduce or soften the struggles and afflictions that are inevitable parts of the human condition."(4) Though a noble goal worth pursuing, reducing affliction must not be accomplished by targeting individuals having, or perceived as having conditions considered undesirable. Encouraging affected individuals to refrain from reproduction, or encouraging their families to terminate pregnancies is eugenic.(5) We must not forget the Nazi regime marketed its eugenic practices as legitimate health care policy that would "alleviat[e] human affliction and suffering."

[The] explosion [in reproductive technology] has occurred so fast that enlightened evaluation by professionals and lay persons of the planned, unplanned, positive and negative consequences of science and technology has not kept pace. Moreover, the evolution of enforceable legal regulations and the formulation of widely understood and accepted ethical policies has lagged behind rapid developments in technology.(6) As the potential for revolutionary change looms on the horizon, the golden rainbow of promise is closely flanked by a black cloud of doom threatening to douse the dreams of progress with a poisonous rain of greed, profit-seeking, and discrimination.

Given that history is repeating itself, a section on the evolution of the early 20th century eugenics movement is included. Following the close of World War II, one witnesses the revival of the American exploration into genetic study: a revival which did not begin by a denouncement of the premises of the proceeding eugenics movement. An exploration of the origins and development of the Human Genome Initiative will then follow. After which the focus will turn to the current role of genetic counseling within the prenatal diagnostic setting: specifically the discourse between physician, genetic counselor, and patient. A discussion of informed consent in general and its specific application will culminate in an advised revision of the process.

At present, a handful of select committees with few members are formulating policy which may soon translate into long-term procedural guidelines for the ethical management of the genetic testing and screening process. Clinical observations shed light on the issues and problems that plague genetics movements of the late twentieth century, including the conversion of potentially beneficent objectives into measures that possess unprecedented potential for evil.

As the late twentieth century genetics movement develops, it is evident there is a fine line between: progress toward a healthier, more fit population, and a future society which has erased much of the bio-diversity necessary for a life-sustaining balance. And if the day comes when our society is less creative, diverse, perhaps less physically healthy and resilient simply because we have targeted too many "defective" segments of society for screening and elimination--it will all be attributable to a new sort of liberating individual autonomy: a lethal autonomy.

Perplexing Paradoxes

Before delving into the historical background, we will present some of the conflicting dilemmas that confront our society.

Paradox #1

The scientific community is bursting with enthusiastic chatter over the recent success in the mapping of a yeast cell. The three million base pairs of nucleotides that comprise the yeast cell genome seem small in comparison to the three billion pairs that make up the human genome. Yet it is the first organism to be successfully mapped and marks the Human Genome Project's first major breakthrough, giving a hint of the success that the future may yield. The project optimists speculate that by...