Genetic Counseling Practice: Advanced Concepts and Skills

By Bonnie S. LeRoy, MS, Patricia M. Veach, PhD and Dianne M. Bartels, PhD

The first advanced-level genetics counseling skills resource

As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. Genetic Counseling Practice: Advanced Concepts and Skills is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors.

• Provides a process view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills)

• Includes experiential activities in every chapter to help readers apply concepts and skills

• Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors

• Features numerous specific, real-life examples from clinical practice

Genetic Counseling Practice addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource.

• Language: English
• Publisher: Wiley
• Release date: Sep 20, 2011
• ISBN: 9781118210598

Book preview

PREFACE

Learn from yesterday, live for today, hope for tomorrow. The important thing is not to stop questioning.

— Albert Einstein

This book is intended for genetic counseling students, practitioners, and educators. Although the focus is primarily on genetic issues in the health care setting, the topics chosen will resonate well with anyone working in the helping professions. Autonomy, patient decision making, risk communication, grief, patient anger, resistance, and countertransference are a few of the counseling-centered topics covered in this book that are universal to the care of all patients and families. Our genetic counselor authors share their extensive expertise from many areas of genetic counseling practice. Some are also cross-trained in disciplines such as psychology and marriage and family therapy. Other authors bring wonderful expertise from related areas of study to genetic counseling practice. This mix of expertise greatly enriches the ways in which we are able to understand our patients and families and further develop the skills that improve practice. Special patient characteristics in this book focus on diversity issues and working with families, children and adolescents, and women with intellectual disabilities. We have also chosen to delve into the development of the genetic counseling professional with a concentration on self-care, reflective practice, and growth in leadership skills. Once again, these topics translate well to anyone working in a health care setting, providing services to patients and families in any country around the globe. Mainly, the book is intended to be used for teaching. The examples described are concrete and drawn from real-life practice. Each chapter has learning activities for use in the classroom, and many of the activities are suitable for practitioners to use individually and/or in a peer supervision setting.

Acknowledgments

We were very fortunate to have been able to work with such a talented group of authors who took the time to share their expertise with all of us. We are appreciative of all the work that each has given to this book. We hope that readers will enjoy learning from these chapters as much as we have. We have learned so very much and there is so much more to know. This is exciting.

BONNIE S. LEROY

PATRICIA MCCARTHY VEACH

DIANNE M. BARTELS

CHAPTER 1

INTRODUCTION

BONNIE S. LeROY, PATRICIA McCARTHY VEACH, and DIANNE M. BARTELS

No one cares what you know until they know that you care.

—Danish (2009)

Genetic counseling is at an exciting point in its professional evolution. The explosion of knowledge and multiple opportunities for patients to learn about their genetic risks have far outpaced advances in understanding the complex psychosocial aspects of genetic counseling practice. Although it is the rare genetic counselor who would endorse ''information provision'' as the only role for practitioners, the counseling aspects are sometimes eclipsed by the volume of genetic information and technological options. Indeed, 40 years after the first students were accepted into a graduate program designed specifically to train genetic counseling professionals, only a handful of books exist that offer detailed instruction in psychosocial methods for genetic counseling practice.

The contents of this book reflect our fervent belief that the role of genetic counselors extends well beyond that of information provider. Indeed, genetic counselors are active and compassionate participants in patients' efforts to understand their genetic risks, endure their emotional struggles, and make life- altering decisions. Therefore, the following chapters focus either on specific strategies for responding to challenging psychosocial issues of practice or on strategies for promoting genetic counselors' professional development. The authors, who are all recognized experts in genetic counseling theory, practice, and research, provide relevant examples from their professional experiences to illustrate key concepts. They also cite the growing data-based literature in order to provide an empirical foundation for their chapters. They also include experiential activities to help readers personally engage with the major concepts and skills.

DEVELOPMENT OF THE BOOK

The concept of an ''advanced skills'' book grew out of our ongoing discussions of various challenges in practice. We found ourselves repeatedly coming to the conclusion that there is a need for more literature that speaks ''in depth'' about these issues from the perspectives of genetic counselor practitioners and/or researchers who study genetic counseling. In selecting topics for this book, we struggled with the question of what constitutes an advanced skill. When writing our first book (Facilitating the Genetic Counseling Process: A Manual for Practice; McCarthy Veach et al., 2003), we had the benefit of reviewing the 1996 American Board of Genetic Counseling (ABGC) practice-based competencies. The ABGC competencies describe requisite minimal skill levels for entry-level genetic counselors. Advanced skills are another matter: They should represent more complex ways of understanding and implementing concepts.

Once we determined that the chapters should examine key concepts in more complex ways, the question became: ''Which concepts should we include?'' We decided to select topics that represent genetic counseling process; we focused on skills that promote desired genetic counseling outcomes. The chapters address universal and enduring concepts that are relevant across different genetic counseling specialties and patient conditions.

The chapters reflect three major domains: genetic counseling dynamics (Chapters 2 to 8), patient cultural and individual differences (Chapters 9 to 12), and genetic counselor development (Chapters 13 to 15). We invited authors to write their chapters in ways that would enhance genetic counseling professionals' ability to gather relevant information effectively, interpret information to patients, and provide patients with appropriate resources. The chapters go one step further. They suggest ways that genetic counselors can deeply understand patient situations, incorporate patient values into clinical practice, provide in-depth support, and deal with both manifest and latent factors affecting patient decision making. Across these chapters readers will find a wealth of theoretical and empirical descriptions of numerous concepts, relevant clinical examples, and practitioner methods and strategies. A recurrent theme concerns ''the person of the genetic counselor'' vis-a-vis reflective practice and commitment to one's professional growth and development.

Around the time that we were finalizing the prospectus for this book, we were also articulating the reciprocal-engagement model (REM) of genetic counseling practice (McCarthy Veach et al., 2007). Since the REM model undoubtedly influenced our choice of topics, we describe it briefly next.

Reciprocal-Engagement Model

The REM model is an amalgamation of data generated during a consensus meeting of North American genetic counseling program directors and our own professional experiences and reflections. In 2004, 23 program directors or their representatives from 20 genetic counseling programs in North America convened for 1% days. Their task was to define a model of genetic counseling practice that is being taught currently. A model of practice ''refers to why and how the service is delivered to patients, as described by tenets, goals, strategies, and behaviors'' (McCarthy Veach et al., 2007, p. 714). The participants worked to develop by consensus the tenets (fundamental beliefs shared by genetic counselors), goals (the aims of genetic counselor practice), strategies (methods for achieving goals), and behaviors (specific actions/interventions) that characterize genetic counseling practice. They identified five tenets.

1. Genetic information is key. Providing information about ''perceived or known genetic contributions to disease'' (p. 721) and engaging in discussion with patients about this information is a particularly unique aspect of genetic counseling.

2. Relationship is integral to genetic counseling. The quality of the relationship developed between the genetic counselor and patient is as important as genetic information. Genetic counseling ''is a relationally-based helping activity whose outcomes are only as good as the connection established between the counselor and patient'' (p. 721).

3. Patient autonomy must be supported. Patients should be as self-directed as possible regarding genetic counseling decisions. The counselor is an active participant, working with the patient's individual characteristics and family and cultural context to facilitate informed decisions. However, an essential aspect of this tenet is that ''the patient knows best'' (p. 721).

4. Patients are resilient. Most patients have the strength to deal with painful situations. Genetic counselors therefore, encourage patients to draw upon their inner resources (coping strategies) and support systems and resources to make decisions and arrive at an acceptance of their situation.

5. Patient emotions make a difference. Patients experience a multitude of emotions that are relevant to genetic counseling. ''Patient emotions interact with all aspects of genetic counseling processes and outcomes, for instance, affecting their desire for information, their comprehension of information, the impact of information on their decisions, their willingness and ability to connect with the counselor, their desire for autonomy, and their perceived resilience'' (p. 722).

These five tenets are illustrated in a triangle that represents their mutual influence on each other (see Figure 1). The genetic counselor-patient relationship is in the center of the triangle because it comprises the conduit for the processes and outcomes of genetic counseling.

The chapters in this book correspond well to the REM. They provide readers with a deeper consideration of patient and counselor characteristics, genetic counseling relationship dynamics, and elements of information provision. Also congruent with the REM, the final chapter of the book addresses professional development and the necessity for genetic counselors to engage in lifelong reflective practice. Reflection is essential for facilitating professional development and for evaluating the impact of one's service provision.

Figure 1 Reciprocal-engagement model of genetic counseling. (From McCarthy Veach et al., 2007.)

Chapter Descriptions

Resta (Chapter 2: Complicated Shadows: A Critique of Autonomy in Genetic Counseling) presents provocative questions about genetic counselors' emphasis on patient autonomy as the primary underpinning of genetic counseling practice. He describes situations in which patient autonomy is not the central tenet. He questions whether autonomy should be the central tenet in many situations. Resta's perspective is consistent with the REM view of autonomy as one of five tenets, as opposed to its being the single central belief.

Zanko and Fox (Chapter 3: Actively Engaging with Patients in Decision Making) argue that the genetic counselor role has become bolder. Genetic counselors must be actively involved in patient decision making. They are an integral part of the process, as opposed to being observers or bystanders. Genetic counselors should evaluate patients' decision-making processes and actively critique those processes. As such, genetic counselors are responsible in part for their patients' decisions. The authors note that ''the genetic counselor accepts direct responsibility for facilitating a decision that will alter the quality of the patient's life.'' Zanko and Fox illustrate the genetic counselor's collaborative role as described in the REM as well as the importance of genetic counselors actively participating in patients' decisions.

DeLany Dixon and Konheim-Kalkstein (Chapter 4: Risk Communication: A Complex Process) describe how risk assessment and risk communication are at best imprecise, ambiguous, unpredictable activities. Furthermore, ''risk'' is understood by everyone, but not in the same way, and it certainly is not dealt with by everyone in the same way. Preparation as a scientist makes us prone to believing that we have hard, clear facts and that it is those facts primarily that patients seek from us. Although genetic information certainly is a main course in counseling sessions, DeLany Dixon and Konheim-Kalkstein point out that helping patients deal with and understand the numbers may not be as important as helping them deal with the pain of uncertainty and the burden of decision outcomes. Their views are reflected in the REM tenet that acknowledges the importance of patients' emotions as well as their resilience in the face of painful situations and decisions. Their perspective further reflects a key theme of the REM: that counselor empathy is an essential component of the genetic counseling process.

Gettig (Chapter 5: Grieving: An Inevitable Journey), Baty (Chapter 6: Facing Patient Anger), and Weil (Chapters 7: Resistance and Adherence: Understanding the Patient's Perspective, and Chapter 8: Countertransference: Making the Unconscious Conscious) offer rich perspectives on common genetic counseling dynamics, including influences of patients and counselors' past interpersonal histories on the genetic counseling relationship and the role of patient and genetic counselor affective states. Weil tells us that some degree of resistance is inevitable and that it reflects, in part, a healthy attempt by patients to cope with their difficult situations. Thus, resistance is a form of resilience (as described in the REM model). Genetic counselors also experience resistance and they need to recognize this tendency in themselves and work on ways to manage it. In a second chapter, Weil describes countertransference and discusses how it is an inevitable dynamic, one that parallels patient transference. To a certain extent, everything that a genetic counselor does in the moment is a reflection of past relationships and experiences (i.e., countertransference). Unexamined counter- transference can have negative ramifications. In contrast, when genetic counselors work actively to recognize and manage their countertransference, they are better able to serve each patient's best interests. Weil provides many useful strategies to assist genetic counselors in recognizing and addressing resistance and countertransference.

Grief and anger are perhaps two of the most socially distressing emotions for many people. Genetic counselors are not immune to their impact (cf. McCarthy Veach et al., 2001). One possible response to intense emotions is to pretend that they don't exist. Gettig cautions against pretending that patients are not grieving, and she reminds us that genetic counseling goals do not include helping patients ''get over'' their grief. Grief is a legitimate part of one's decision making and coping-adaptation. Gettig further emphasizes that contrary to what one might think, patients are the experts when it comes to their grief experience. Therefore, although it can be very useful to draw from one's own life experience and prior clinical experiences, genetic counselors must listen to their patients' unique stories. Baty similarly recommends that genetic counselors acknowledge and address patient anger. She advises genetic counselors to make efforts not to take patients' anger personally: rather, to understand that anger is part of the process. Baty further offers a number of strategies for responding effectively to patient anger.

Lewis (Chapter 9: Honoring Diversity: Cultural Competence in Genetic Counseling) tells us that cultural competence requires continual self-reflection by genetic counselors in order to build awareness of personal biases. Cultural competence also requires counselors to increase their knowledge of and sensitivity toward patients' cultural differences and how these differences interact with patients' individual characteristics. He notes: "Helping patients come to terms with the presenting condition, within the context of their own lives, is the goal [of culturally competent genetic counseling].'' He also says: ''One challenge to cultural competence and to the psychosocial dimension of genetic counseling is the proliferation of new technologies and the focus on their rapid deployment across the field . . . . As a field, we must reiterate the importance of listening 'with' the patient in the counseling moment and developing a perspective that honors the cultural and non-cultural narratives that the patient brings to the genetic counseling encounter.''

Eunpu (Chapter 10: Genetic Counseling Strategies for Working with Families) and Austin (Chapter 11: Developmentally Based Approaches for Counseling Children and Adolescents), in their respective chapters, describe useful strategies for working with families, children, and adolescents. Eunpu illustrates common dynamics in family systems, while Austin provides devel- opmentally appropriate counseling techniques. These authors also remind us that genetic counseling always means ''families,'' regardless of who attends a genetic counseling session. If genetic counselors focus too intensely on a goal of helping individuals make decisions that are ''best for them,'' they may overlook the reality that most patients are influenced by and do consider other family members. Thus, it is not possible to make a completely independent decision.

Finucane (Chapter 12: Genetic Counseling for Women with Intellectual Disabilities) illustrates an important individual difference in her focus on genetic counseling for women with limited cognitive capacities. Cognitive variability affects how patients participate in genetic counseling, and Finucane discusses ways in which genetic counselors might modify their approaches accordingly. Similar to Austin, Finucane provides developmentally appropriate strategies.

Resta, Zanko and Fox, DeLany Dixon and Konheim-Kalkstein, Gettig, Baty, Weil, Lewis, Eunpu, Austin, and Finucane provide a common message: Although genetic counselors have a rich clinical basis on which to understand and approach each patient, they must balance their clinical wisdom against the reality that they know ''nothing'' about a particular patient. Only by carefully listening to the patient sitting in front of them and taking care to build a strong relationship can genetic counselors more fully support the patient's unique situation. They further emphasize the importance of being aware of and, in many cases, bringing out into the open more latent aspects of genetic counseling interactions (feelings, perceptions, biases, values) that play such a strong role in both processes and outcomes.

The remaining chapters of this book speak to some of the ways that genetic counselors can build and maintain their ability to listen and relate in unique ways to each patient. These chapters focus on genetic counselor professional development, reflective practice, and self-care—all play central roles in one's service provision.

Peters (Chapter 13: Genetic Counselors: Caring Mindfully for Ourselves) draws attention squarely to the practitioner and her or his well-being. Genetic counselors are an active ingredient in genetic counseling and therefore must be in top form. She offers strong evidence regarding the importance of caring for one's self in order to maintain one's vitality as a genetic counselor. She also describes a variety of approaches for self-care. Zahm (Chapter 14: Professional Development: Reflective Genetic Counseling Practice) discusses compelling evidence that practice in the absence of self-reflection may lead to stagnation and even deterioration. She suggests several ways that genetic counselors might challenge themselves toward greater self-awareness in order to promote further development of their clinical skills. Callanan (Chapter 15: Mobilizing Genetic Counselor Leadership Skills) describes ways in which the genetic counseling world is a great deal larger than one might realize upon graduation. She encourages genetic counselors to recognize the numerous ways in which they might contribute, and she discusses how these contributions reap personal and professional benefits.

DEFINITION OF GENETIC COUNSELING

No advanced skills book would be complete without the inclusion of a definition of genetic counseling, because it provides a broader conceptual umbrella for the numerous processes and outcomes of clinical practice. The definition that best corresponds to the contents of this book is that of Resta and colleagues (2006), members of a National Society of Genetic Counselors (NSGC) task force charged with developing a new definition of genetic counseling:

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following:

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.

Education about inheritance, testing, management, prevention, resources and research.

Counseling to promote informed choices and adaptation to the risk or condition.

Genetic counseling is a communication process in which trained professionals help individuals and families deal with issues associated with the risk of or occurrence of a genetic disorder. (p. 77)

CAVEATS

Some of the advanced genetic counseling skills presented in this book lack a strong research base, because the research has yet to be done. Therefore, some content is grounded more heavily in personal experience and anecdote than in empirical evidence. We encourage readers to reflect critically on the concepts and strategies presented and to determine how these fit their personal style and practice needs. Furthermore, some of the case examples, although clearly illustrating counseling skills, may seem simplistic and/or artificial. The examples and corresponding strategies are intended to serve as a guide for practice and not as a formula for service provision and professional development. Importantly, all cases and examples presented in the chapters have been anonymized.

Each chapter concludes with several learning activities. They are relevant for advanced genetic counseling students in their coursework, supervisors and their students in clinical rotations, genetic counselors in peer supervision groups, and anyone involved in the practice of genetic counseling. Many activities can be modified for use either in groups or individually. We strongly recommend that readers have specific learning outcomes in mind when selecting an activity, as this will help in determining the appropriateness of an activity for a particular audience. Furthermore, explaining the desired learning outcomes to participants will give them a rationale for doing the activity, thus helping to prevent confusion about and/or resistance to the activity.

IN CLOSING

We hope that you will enjoy reading the chapters in this book as much as we have. We further hope that your professional development and genetic counseling practice will benefit from the guidance provided by these authors. We thank the authors for their generous sharing of their expertise. We know that they care, and therefore, we care about what they know.

REFERENCES

Danish SJ (2009). Introduction to Psychological Interviewing. Course syllabus, Department of Psychology, Virginia Commonwealth University, Richmond, VA.

McCarthy Veach P, Bartels DM, LeRoy BS (2001). Ethical and professional challenges posed by patients with genetic concerns: a report of focus group discussions with genetic counselors, physicians, and nurses. J Genet Counsel, 10:97-120.

McCarthy Veach P, LeRoy BS, Bartels DM (2003). Facilitating the Genetic Counseling Process: A Practice Manual. New York: Springer-Verlag.

McCarthy Veach P, LeRoy BS, Bartels DM (2007). Coming full circle: a reciprocal- engagement model of genetic counseling practice. J Genet Counsel, 16:713-728.

Resta R, Bowles Biesecker B, Bennett RL, Blum S, Estabrooks Hahn S, Strecker MN, William JL. (2006). A new definition of genetic counseling: National Society of Genetic Counselors task force report. J Genet Counsel, 15:77-83.

PART I

GENETIC COUNSELING DYNAMICS

CHAPTER 2

COMPLICATED SHADOWS: A CRITIQUE OF AUTONOMY IN GENETIC COUNSELING

ROBERT G. RESTA

OBJECTIVES

Define autonomy and its role in genetic counseling practice.

Identify six critiques of autonomy as a primary trumping ethical principle.

Develop ethically sound counseling strategies for situations in which patient autonomy may not be desired by the patient or in which reliance on autonomy may not be in the patient's best medical or psychosocial interests.

There's a line you must toe

But it's darker than you know

In those complicated shadows.

— Elvis Costello

Complicated Shadows

Sheldon Reed defined genetic counseling in 1947 (Resta, 1997), coincidentally the same year that the Nuremberg Code on human experimentation was formalized by a U.S. military court in United States of America v. Karl Brandt, et al. (Fischer, 2006). The Nuremberg Code has profoundly influenced medical ethics, particularly the development of individual autonomy as the primary guiding principle of Western medical ethics in general (Fischer, 2006) and of genetic counseling specifically.

Although the Nuremberg Code does not contain the word autonomy, its first item is a clarion call for autonomy in medical experimentation:

The voluntary consent of the human subject is absolutely essential. This means that the person involved should have legal capacity to give consent; should be so situated as to be able to exercise free power of choice, without the intervention of any element of force, fraud, deceit, duress, over-reaching, or other ulterior form of constraint or coercion; and should have sufficient knowledge and comprehension of the elements of the subject matter involved as to enable him to make an understanding and enlightened decision. (http://ohsr.od.nih.gov/guidelines/nuremberg.xhtml)

The decades after the Nuremberg Trials (Taylor, 1992) witnessed social changes such as increased reproductive freedom, civil rights legislation, the growth of patient advocacy, and the decline of medical paternalism, which contributed further to autonomy assuming a central ethical role in society and in medicine. Genetic counseling—and genetic counselors' focus on empowering patients—are products of these times.

The 1980s saw a dramatic increase in the number of pregnancies to women 35 and older concomitant with the growth of the genetic counseling profession (Resta, 2005). This surge in pregnancies, primarily among better educated and higher-income women, provided economic and employment justification for the fledgling genetic counseling profession and also provided an opportunity for autonomy to become the bioethical rallying cry of genetic counselors when the choice of amniocentesis became more widely available starting in the late 1970s and early 1980s.

DEFINITION AND FOCUS

Autonomy has been defined in many ways with differing emphases and nuances. Based on clinical experience, discussions with colleagues, and extensive reading of the genetic counseling literature, it is my impression that genetic counselors usually view autonomy as a form of noncoerciveness. Therefore, within the context of genetic counseling, I define autonomy as the principle that people should make medical decisions free of physical, social, political, economic, and psychological constraints. The emphasis in this definition is on the individual, although in practice, autonomy may extend beyond an individual to a couple, and even to entire families trying to make a decision. The counselor's role is to be an objective third party whose opinions should be irrelevant and unstated to a patient lest the counselor be viewed as overtly or subtly trying to influence the patient's decision.

Some studies have addressed the practice of nondirectiveness in genetic counseling (Bartels et al., 1997; Michie et al., 1997), but no empirical study has addressed the role of autonomy in genetic counseling practice. However, autonomy is an explicit key value of the National Society of Genetic Counselors (http://www.nsgc.org/about/codeEthics.cfm), the Australasian Society of Genetic Counselors (http://hgsa.com.au/images/UserFiles/Attachments/ASGCCodeofEthics.pdf ), and the German Society of Human Genetics (http://www.medgenetik.de/sonderdruck/en/Position_paper.pdf). It would not strain credibility to say that autonomy is the core guiding and trumping ethical principle of genetic counseling practice in much of the Western world.

In this chapter I provide a critique of the role of autonomy in genetic counseling and suggest ways of dealing with challenges that arise during the practice of genetic counseling. Readers are referred to the work of Onora O'Neill (2002) for an enlightening and thorough analysis of the role of Kantian autonomy in genetics.

SIX CRITIQUES OF AUTONOMY

Critique 1 The right to autonomous decision making is not universally available, due to economic and social realities. A core ethical principle should be applied equitably to all patients. This presumes that all patients have equal access to all medical options. The world is not ideal, however, and many patients' options are limited by sociocultural boundaries to medical care or the availability of funding to pay for medical care. It is absurd to say that such patients have a choice, when limited choices are available to them (Hedgecoe, 2006).

For women with limited access to the full spectrum of health care services, the principle of autonomy is of very limited value as a guiding principle in making medical decisions. In these situations, genetic counselors need to move beyond autonomy and utilize different ethical principles to guide their interactions with these patients, and those principles need to reflect the economic, social, and cultural realities of their patients' lives.

In genetic counseling practice, this critique is best illustrated in the daily routine of offering amniocentesis to patients. The clinical and ethical basis of providing amniocentesis is that the procedure is offered to women when the risk of having a child with a chromosome problem—as determined by supposedly objective criteria such as maternal age, maternal serum levels, or sonographic findings—exceeds the risks of amniocentesis.* Patients should then be free to choose to undergo prenatal diagnosis and to continue or terminate a pregnancy in which a fetal chromosomal or genetic abnormality has been identified.

In reality, such choices are not available to all women. For example, many women do not have health insurance and therefore cannot afford the costs of genetic counseling and testing. In some localities, the cost of amniocentesis may be covered by state funding, but coverage for abortion is not always available. For these women the choice of having an abortion has effectively been taken out of their hands. Why should a woman risk losing a pregnancy when in most situations the results of the test are unlikely to influence the management, course, or outcome of the pregnancy?

Even where, theoretically, medical care is universally available, poor and minority women face numerous social, cultural, and political obstacles to access. Studies in the United States, Australia, and France have shown that limited availability of abortion services and/or social and cultural barriers to health care results in underutilization of amniocentesis and an increase in the live birthrate of children with Down syndrome among poor families (Coory et al., 2007; Khoshnood et al. 2000, 2006).

A more practical ethical approach would be to acknowledge a patient's cultural, economic, and social situations and work within those possibilities and limitations to understand how they may limit autonomy. For example, for patients who cannot afford amniocentesis and/or abortion or for whom abortion is not an option for personal or sociocultural reasons, a different set of counseling goals might be developed. Recognizing that such patients have limited choices, it is inappropriate to focus the counseling session on the risks and benefits of amniocentesis and then to tell the patient that it's her choice. Assuming that all financial assistance pathways have been exhausted, the genetic counseling session instead could start by acknowledging the limited value of amniocentesis for the patient (except in the rare instances where amniocentesis results might influence obstetric management), explore what resources the patients might have available to deal with raising a child with handicaps, emphasize the relatively low likelihood of Down syndrome in most situations, and review alternatives to amniocentesis, such as ultrasound or serum screening. Or perhaps the counselor might take a more directive approach and discuss with such patients that perhaps they may not want to undergoing serum or sonographic screening in the first place because screening could lead to a path (amniocentesis, abortion) that is not a realistic option for economic, cultural, or social reasons.

Critique 2 In practice, autonomy is not a right but a privilege that can be revoked based on socioeconomic status. Autonomy is a privilege available to the right women making the right choices. Some women make wrong choices and may forfeit their autonomy. For example, if a woman intentionally puts her fetus in harm's way, her autonomy may be legally and socially constrained. This is best illustrated in pregnant women who abuse illegal drugs, particularly crack cocaine and methamphetamine. Newspapers, magazines, and television news shows are filled with pictures of small, jittery infants and stories about supposed epidemics of disabled babies born to women who use illegal drugs during pregnancy. Such women are vilified, sometimes imprisoned, and faced with questionable offers of voluntary sterilization (e.g., Eberly, 2007; http://www.projectprevention.org; Slade, 2001).

Infants born to women who abuse drugs undoubtedly face significant challenges. However, there is reason to doubt the clinical validity of the physical and behavioral phenotype of crack babies,'' nor is there convincing evidence of an epidemic of crack babies'' (Frank et al., 2001). Although it is difficult to know the frequency of drug abuse in pregnancy, probably no more than 1% of pregnant woman use illegal drugs such as methamphetamine and cocaine during pregnancy (Arria et al., 2006; Kennare et al., 2005).

Substance abuse cuts across all segments of society, but poor and minority women are overrepresented among users of illegal drugs. The autonomy of these women is questioned based on their exposing their fetuses to, at best, questionable risks. In fact, though, this limiting of autonomy is more a function of their socioeconomic status than any risks to their babies. This also highlights the fuzzy distinction between illegal and legal drugs. The highest-risk group for drinking alcohol (a legalized drug)—one of the most potent human terato- gens—throughout pregnancy are non-Hispanic women over age 35 with more than a high school education, who have higher incomes (Phares et al., 2004). There are no large-scale calls to limit the autonomy of, to arrest, or to sterilize college-educated women who drink wine during pregnancy (Tillett and Osborne, 2001).

In contrast, there are two larger groups of women who knowingly put their pregnancies and fetuses at significant risk for problems that are well proven, yet the autonomy of these women is rarely questioned. Such women are often portrayed heroically, and their babies are viewed as miracles and medical triumphs. These include infertile couples who utilize assisted reproductive technologies (ARTs) such as in vitro fertilization, and women over 35 who become pregnant: the advanced maternal age (AMA) population, who make up the overwhelming majority of patients in a typical prenatal diagnosis clinic.

The obstetric and fetal risks related to ART are debated, but the bulk of the evidence suggests that singleton ART pregnancies are at increased risk for complications such as prematurity, low birth weight, admission to a neonatal intensive-care unit, perinatal mortality, and possibly congenital defects (Sutcliffe and Ludwig, 2007). In addition, ARTs contribute disproportionately to the number of multiple pregnancies. For example, about 1% of all births in the United States are from ART pregnancies. Yet ART procedures account for 16% of all twin births and 44% of all triplet births in the United States; 51% of ART infants are born in multiple-birth deliveries (Wright et al., 2006). The medical and economic costs of multiple pregnancies are well known (Collins, 2002; Koivurova et al, 2007; Ledger et al., 2006).

The rise in the percentage of AMA pregnancies in the last 25 years is well documented. Perhaps not surpisingly, growth in the membership of the National Society of Genetic Counselors has paralleled this growth (see Figure 1). It is important to note that although interesting, these data cannot be interpreted as a causal connection. About one in seven births in the United States is to women 35 and above, with significant local variation as high as one in four births (Resta, 2005). The increased risks of Down syndrome and other chromosomal abnormalities in such pregnancies has been known since the 1930s (Resta, 2002). The increased number of pregnancies to women 35 and older since 1980 has resulted in an 80% increase in the number of Down syndrome pregnancies predicted. Since 1990, the live birthrate predicted for babies with Down syndrome has increased from 1 in 876 births to 1 in 614 births (assuming no prenatal diagnosis, to illustrate a point) (Resta, 2005). Women 35 and older now account for slightly more than half of all pregnancies with Down syndrome (Resta, 2005). This is perhaps closer to an epidemic attributable primarily to a specific behavior than to the purported epidemic of "crack babies.''

Figure 1 Percentage of AMA pregnancies in the United States (1975–2001) (dashed curve) vs. the size of the membership of the National Society of Genetic Counselors (solid curve).

Despite these known and significant risks, there are few editorials condemning couples for using ARTs or waiting until they are older to have a family. The evening news does not display video clips of NICUs filled with premature, low- birth-weight babies born after ART use. Nobody has ever suggested that a woman should be jailed for undergoing an ART procedure or for getting pregnant at age 40.

In both situations—drug abuse and AMA/ART—fetuses are put at some risk. Yet for women who use illegal drugs, there is nearly universal condemnation and demands to limit their reproductive autonomy. On the contrary, the typical AMA woman who decides to have or not have amniocentesis is usually held up as the paradigm of autonomy in daily genetic counseling practice.

Although it may be argued that some women choose to use drugs and therefore should be condemned for their choice, so do women choose to wait to have babies until age 35 or to utilize ARTs. In both situations, there are larger social forces influencing these choices. Not surprisingly, AMA and ART pregnancies are far more common among older, well-educated, nonminority women (Resta, 2005): the more economically privileged segment of society, which can afford it.

Critique 3 Autonomy is a culturally limited concept. Autonomy is a core ethical principle chiefly among nonminority populations in areas such as Western Europe, the United States, Canada, Australia, and New Zealand. Until relatively recently, the majority of genetic counseling patients and genetic counselors, were middle- and upper-middle-class nonminority persons. The value of individual autonomy was implicitly and explicitly accepted by both practitioners and patients.

Genetic counseling service providers have since made attempts to reach out to underserved populations, emigration and immigration patterns have altered population structures, and genetic counseling programs have sprung up in other countries. These changes have created serious challenges to autonomy.

In other cultures, individual autonomy may not be as strongly valued as the authority of social groups, health care providers, and specific relatives such as husbands, parents, in-laws, or whoever acts as the head of household (Bowman and Hui, 2000; Browner et al., 1999, 2003; Fagan, 2004; Oliffe et al., 2007; Ong et al., 2002; Shaibu, 2007; Tai and Tsai, 2003, Wertz et al., 2002). Certainly, there is significant variation in cultural norms within populations, and it is easy to fall into the trap of cultural stereotyping. Nonetheless, attempts to force autonomy on someone who has very different ways of making decisions result in failure and alienation of genetic counseling patients. Respect for cultural norms and decision-making style is more important than respect for autonomy. Failure to recognize this will result in continued underserving of minority and non-Western patients.

When dealing with non-Western patients, the counselor should explore how such patients typically make decisions about medical matters. A spouse, grandparent, community figure, or group may play a significant role in deciding what is best for a patient (Port et al., 2008). What matters is that the patient makes a decision using norms and processes with which the patient is comfortable, rather than judging the decision by the counselor's own cultural standards.

Critique 4 Even among traditional genetic counseling patient populations, individual autonomy is not universally desired. A tacit assumption of genetic counselors is that their middle- and upper-class patients desire autonomy. In fact, many patients will strongly assert their desire to make autonomous, independent decisions by seeking consultations with multiple health care providers, obtaining input from other patients, and searching the Internet for information.

However, the fully autonomous and competent patient may be less common than we assume. Carl Schneider, in his book The Practice of Autonomy (Schneider, 1998), summarized empirical research on the role of autonomy in the daily practice of medicine. Based on his analysis, he concluded the following:

1. Some patients want autonomy.

2. Some patients say they want autonomy but then abdicate autonomy.

3. Many patients do not want autonomy, or they want limited autonomy.

4. Patients have a hard time making decisions about medical care and are often frustrated when confronted with autonomy.

5. Some patients are too sick to make autonomous decisions.

6. Some patients cannot clearly articulate their values and beliefs about complex issues.

Thus, even though we may hold up autonomy as a critical ethical principle, expecting a patient to be completely autonomous may impair the counselor- patient relationship. To effectively counsel patients and help them make medically and ethically complicated decisions, we must understand that the desire for autonomy is highly variable across patients, and at different times for the same patient. The genetic counselor must rely on good counseling skills, continuing education, and professional supervision to work to understand the degree of autonomy desired by a particular patient at a particular time in a particular situation and to devise alternative ethical and counseling strategies to work with patients who abdicate autonomy.

Critique 5 Autonomy can serve to justify a poor counseling technique called nondirectiveness. Nondirectiveness is a genetic counseling strategy in which the genetic counselor tries to avoid influencing a patient's decision. It has long been heralded as the ideal counseling approach, and autonomy serves as its ethical justification (Kessler, 2000; Resta, 2000; Weil et al., 2006).

There are many counseling situations in which a nondirective approach is quite appropriate. But the common questions of genetic counseling sessions are, typically: What would you do?'' or If it were your wife, what would you recommend?'' or, more plaintively, ''What should I do?'' These questions challenge the counselor's nondirective stance. The traditional nondirective response is to avoid answering the question by saying that the counselor's values may be different from those of the patient and that the clinician should not presume to know what is best for the patient.

But these questions are, in actuality, pleas for help. The patient is really saying: ''You know, this situation is so technical, ethically complicated, and I am worn down by it all. I don't know what to do. Please help me.'' The response ''Sorry, I can't decide for you'' or ''My values are not relevant to your situation'' slams the door in the patient's face and tells patients that you do not want to help them, or that you do not have the skills and professional knowledge to do so. It becomes a lost opportunity to help patients through a very difficult time at the very moment when they are pleading for assistance.

There are a number of different, more fruitful counseling approaches to use when these questions inevitably arise. One approach is to tell patients what you would do in their shoes. Some patients are simply looking to avoid making a foolish choice. If the genetic counselor makes the same choice the patient would, it can serve to make the patient feel more comfortable with the patient's decision. Along with telling the patient what the counselor would do in a similar situation, counselors should provide the technical, ethical, and psychological reasoning they used to arrive at a decision (White, 1997).

For example, the counselor might say: ''The results of this BRCA test would help my wife decide if she should have an oophorectomy, and it is very important to us to avoid the risk of ovarian cancer. This may be an emotionally fragile time for us and learning this information will surely create some anxiety, but we feel that having this information would give us some measure of control over cancer instead of cancer having control over us.'' In a different scenario the counselor might respond: ''Well, we have had a hard time getting pregnant, and any risk for miscarriage, no matter how small, looms very large to us. We have the economic and familial support to care for a child with disabilities. So, for us, amniocentesis is the wrong decision.'' The patient may or may not choose the same course of action. But the counselor's response has provided the patient with a way of thinking about what values and information are important in making a decision.

Of course, there might be other ways of addressing these questions from our patients. An alternative strategy could be to play What-If with the patient. In What-If, the patient is asked to imagine that he or she has decided on a course of action, and then the counselor walks the patient through the outcomes of having made a particular decision. The counselor might say something like: ''This would be a very difficult decision for me, too, although perhaps for different reasons. Let's say that you've decided to undergo genetic testing. Let's talk about how you think this would affect your medical care, your life, and your relationships.'' The counselor and patient can explore potential reactions to and other implications of having made a particular decision. The counselor could suggest strategies for dealing with negative outcomes.

If we rely too strongly on patient autonomy and remain unflinchingly nondirective, we lose out on chances to utilize simple counseling skills in ways that enrich the genetic counseling experience for our patients and ourselves.

Critique 6 If genetic diseases run in families, and families are our patients, why shouldn't the family have autonomy? By their very nature, genetic diseases are family affairs. It has been said that in genetic counseling, the family is the patient. Relatives share DNA, so the genetic test results of one person will have implications for the entire family. Therefore, it could be argued that no one person ''owns'' his or her DNA, and at least the immediate family has a vested interest in and right to knowledge regarding DNA test results.

Familial relationships also engender social and emotional responsibilities. Patients may decide to have testing not only because it may benefit them, but also because they recognize that the information has significant implications for their relatives (Hallowell et al., 2003; McConkie-Rosell and Spiridigliozzi, 2004). A woman may choose to undergo BRCA testing in a situation where she does not feel that there is a clear personal benefit if she feels that the information might be useful to their sisters, daughters, and nieces. To tell patients that their autonomy comes first and that family members should not influence their choices is to deny a critical motivating factor that drives many patients to have genetic counseling and testing in the first place.

It could therefore be argued that in certain situations, such as cancer genetic testing, where the results have a significant impact on the health risks and medical care of other relatives, the autonomy of individuals may be outweighed by their responsibilities to their families or the perceived best interests of their children.

SUMMARY AND RECOMMENDATIONS FOR PRACTICE

Respect for autonomy is an important value in genetic counseling. However, it also has its limitations:

All patients do not have equal access to all medical choices.

A patient's right to autonomy can be limited by socioeconomic status, and the variable right to autonomy simultaneously reflects and reinforces existing social inequities.

Individual autonomy is an ethical construct peculiar to Westernized cultures. Uniform application across cultures is bound to result in failure.

Even in Western societies, not all patients want autonomy, and individual patients may fluctuate in their desire to maintain autonomy.

Uncritical dependence or overreliance on autonomy can result in poor genetic counseling techniques.

Familial autonomy may sometimes be more important than individual autonomy.

Patient autonomy should remain a core ethical value of genetic counseling. Ignoring or denying autonomy could result in the loss of hard-earned reproductive and medical rights that have been secured on the basis of patient autonomy. However, this does not mean that autonomy should trump all other values in all situations. Blind adherence to autonomy can produce as much harm as ignoring it. The primacy of autonomy should be replaced with a counseling approach that balances competing ethical demands in specific situations, along with acknowledging the economic, social, political, and cultural realities that confront our patients.

In shared decision making, patient and counselor discuss, openly and candidly, their understanding and feelings about what is the best decision or course of action for the patient (e.g., Dolbeault et al., 2006; McCarthy Veach et al., 2007; van Roosmalen et al., 2004; White, 1997; Whitney et al., 2008). The core of shared decision making is the relationship between the patient and the counselor. Autonomy is respected by both parties, but the model tacitly acknowledges that the focus is on the best interests of the patient, rather than the patient's wishes. If a patient chooses a course of action that the counselor feels is at odds with the patient's best medical or psychosocial interests, the counselor has the ethical freedom—perhaps even an ethical imperative—to explore these differences with the patient. To some extent, this is at odds with Chervenak et al. (2008), who recommend that ''the physician or counselor should ... in no way imply that either refusal or choice of invasive diagnosis is any less acceptable than accepting risk assessment.'' The ultimate goal of shared decision making is for patients to make decisions that counselor and patient perceive to be in the patient's best interests, and this can sometimes require significant discussion and exploration by counselor and patient.

Shared decision making does not guarantee good medical or counseling outcomes, nor does it ensure patient satisfaction. The experience and judgment of the counselor and the willingness and ability of the patient to engage in a reciprocal decision-making relationship are critical to the application and success of this strategy. As with autonomy, some patients will be less willing or able than others to engage in shared decision making with the counselor. Such situations require the counselor to utilize basic counseling skills to help patients arrive at decisions that are medically and ethically appropriate. Simply telling patients what to do is not a helpful approach for many patients, even for those who say they want to be told what to do. For patients who ask the counselor to make the decision for them, the counselor might say something like: ''Based on what you've told me so far about yourself, and based on my medical assessment of your situation, it seems reasonable for you to consider having the test [or not, as the case may be]. Do you agree with my thoughts? Why?'' This involves the development of good counseling and conflict resolution skills, and requires counselors to keep their professional egos in check to avoid paternalistic treatment of patients.

LEARNING ACTIVITIES

Activity 1 Reflection and Sharing Responses

Read the following scenario and then take 5 minutes to write initial responses to the three questions accompanying the scenario.

Scenario Patients should have the right to undergo amniocentesis even if they would choose not to terminate a pregnancy. However, it could be argued that this is morally untenable in many situations. Certainly, if the results of prenatal testing are known to change pregnancy management to improve outcomes, or if there is very high risk of a fetal problem (defined arbitrarily as >25%), the benefits of prenatal diagnosis outweigh the risks. However, the risk of a fetal anomaly is about 1 to 2% in the vast majority of women who undergo amniocentesis. For Down syndrome and other chromosomal abnormalities, there is very little convincing evidence that prenatal knowledge about the condition usually results in better medical outcomes or improved parent attachment to the child.

1. Is it morally justifiable to undergo amniocentesis and risk the life of the fetus because of parental anxiety or so that parents can use the time to learn about the condition, especially in light of