Nowhere is the biological world more interesting, flamboyant, and sometimes devious than it is with regard to sexual traits and reproductive activities. Procreation is the name of the evolutionary game, and organisms have discovered seemingly endless ways to transmit copies of their genes successfully to subsequent generations. Thus, species display an amazing variety of procreative adaptations and reproductive lifestyles whose geneses and historical interconversions are of special interest. Case studies highlighted in this chapter illustrate how PCM analyses have contributed to scientific understandings of the evolutionary transformations involving a variety of organismal characteristics directly related to reproduction, such as parthenogenesis (virgin birth), male pregnancy, egg laying, egg dumping, live bearing, delayed implantation, nest construction, brood care, and foster parentage. The PCM approach has even provided one definitive answer to the proverbial question: which came first, the chicken or the egg?

The chicken or the egg?

A chicken's egg is a rather amazing reproductive contraption: tapered at one end so that it can't easily roll out of the nest; just large enough to provision an embryo with adequate nutrients yet small enough to pass through a hen's cloaca (vaginal opening); and covered with a protective calcareous shell that can withstand the weight of an incubating parent but none the less is fragile enough to permit an emerging chick to peck its way free. Inside an egg's hard casing are all the biological paraphernalia necessary to support and nourish a developing embryo.

Perhaps the most obvious characteristics for PCM are those readily visible to the human eye as morphological or anatomical variations among related species. Indeed, the number of published PCM studies involving macroscopic body features (such as beak shapes, limb configurations, and body morphs) probably exceeds the numbers for any other single category of organismal traits (e.g. behaviors, physiologies, or ecologies). This chapter will examine several case studies in which especially puzzling and even bizarre morphological phenotypes have been the subjects of PCM.

Whence the toucan's bill?

About 40 species of toucan (Ramphastidae) inhabit portions of New World forests from southern Mexico to northern Argentina and Paraguay. Their most prominent feature is a colorful bill, which can be nearly as long as the bird's body. This protuberance is so outlandish that a toucan flying through a pasture or woodland can look like a silly clown pushing a banana along in front of its face. Despite its size, a toucan's bill is light and can be dexterously employed to plunder eggs or hatchlings from another bird's nest, or to pluck fruits that make up an important part of the toucan's diet. However, the spectacular colors of toucans' bills are thought to serve primarily in mate attraction or mate recognition during courtship. Thus, the toucan's bill probably evolved its impressive features via sexual selection (selection directly related to mate acquisition) as well as natural selection.

The previous chapters have focused on different aspects of the genetic counselling encounter and have put particular emphasis on the importance of the uniqueness of the individual or family. The counsellor respects that uniqueness by offering an appropriately attuned and facilitating relationship which forms the solid core of a consultation. It determines how the consultation proceeds and is the context within which the different genetic consultations take place. There may be a single consultation where the emphasis changes at different stages of the counselling process, or several meetings with a different emphasis in each one. This chapter begins with a common framework which can be applied to all genetic counselling. It moves to focusing on how four different disorders, by their very nature and their implications, will influence the focus and process of the interview and, consequently, the emphasis placed by the counsellor.

The common denominators which apply to all consultations

Genetic counselling may appear to revolve around a central element of information both giving and receiving, but the process does not follow a straight line of an individual asking a question which is then answered. The counsellor makes a series of interventions and the way the individual or family responds will determine the subsequent direction. The counsellor is constantly observing responses and reviewing and adjusting the path of the consultation correspondingly. For instance, the process begins with a question being asked and that may take the form of a symptom, a worry, a request for information or many other forms.

Debating the possibility of non-directiveness

The earlier chapters have presented a theoretical underpinning for genetic counselling (stress), a framework for understanding differences in individual behaviour (attachment theory) and various micro-skills (empathy, etc.) to furnish the counsellor with an appropriate repertoire. This final chapter returns to looking at the overall picture, using a wide-angled lens to explore ‘the culture’ of genetic counselling. The terms genetic counselling and non-directiveness have become synonymous and seem to be intertwined in spite of the efforts of a number of authors to disentangle them and clarify meanings. Clarke (1991) has debated the possibility of achieving non-directiveness and further, whether it is desirable. Wolff and Jung (1995) consider that the demarcation from eugenics, the training of counsellors specifically for genetics and the infiltration of psychological counselling concepts have contributed to the idea of respect for patient autonomy in genetic counselling. They propose the term non-directive be dropped and that a more psychotherapeutic approach of exploring meaning and personal significance is more appropriate. Expressing a similar sentiment Weil (2003) considers that the term non-directive is a historic relic and an impediment to creative theory and practice. He proposes that the relevant components of balanced information without the counsellor imposing values be retained and that the central ethos should be to bring the psychosocial into every aspect of the work. In addition, there may be a difference in the counsellor's and patient's perception of the neutrality of the counsellor (Shiloh and Saxe, 1989).

This chapter explores how working in medical genetics can be emotionally challenging for the counsellor and examines it under two broad headings: factors relating to the nature of the task and countertransference issues. The former relates to the fact that genetic counselling is inherently stressful and very painful for families and individuals. The latter refers to factors arising as a result of working with a particular individual, countertransference issues. The counsellor needs a diversity of the skills to work effectively to help and not be overwhelmed. This chapter will demonstrate how the counsellor's self-exploration can be personally beneficial and, if understood, it can enrich the overall encounter by adding another dimension of meaning to the behaviour of the patient and the interactional relationship. Regular supervision creates a safe psychological space for exploration and learning.

The nature of the genetic counselling task

The nature of the counsellor's task is complex and has been one of the main areas of interest in this book. At this point it is considered in relation to two areas: the particular skills mix required and the giving of ‘bad news’.

The skills

required Working in the field of medical genetics brings many exciting opportunities to study a speciality in the forefront of scientific medicine whilst also being in touch with the human side of the work, talking and working with people. This is rewarding and affords the counsellor the opportunity to develop these seemingly different aspects of the self, the scientific and more emotionally-attuned.

The role of the counsellor

In the genetic counselling world there is debate about the main role of the counsellor, some viewing it as providing information (Antley, 1979), whilst others emphasise the facilitation of decision-making (Hsai, 1979). Shiloh (1996) comments that in reality, willingly or not, most counsellors become decision-making counsellors. Soldan et al. (2000) are of a similar mindset and consider that in predictive testing the main aims of the interview are to assist in decision-making and to help in the preparation for a result. They differentiate between the role sometimes demanded by the system of assessing the suitability for testing and the patient-focused role of assisting in their decision-making. Horowitz et al. (2001) consider that there are two major tasks in genetic counselling: ‘shock mastery’, with the appraisal of the meaning of a test result and a review of the question, ‘Why me?’ The counsellor's role would be to facilitate the two tasks.

At first sight, the two roles of information-giver and facilitator appear to be at odds with one another. However in practice, the tension between the two roles and their different elements is not that great. The two elements may involve separate themes and processes but they are intimately linked and there is a natural follow-on process from the one to the other. The patient is given information and its meaning triggers an emotional response. If the counsellor is in tune with the patient the counsellor responsively changes from an information-giver to a facilitator.

The previous chapter clarified that although every genetic counselling consultation is unique, there is, nevertheless, a definite and general form to a consultation. This has evolved from clinical experience and is designed to help the individual address the issues involved. This thoughtful and measured approach applies to a single consultation, as much as it does to a series in predictive testing. The pace of genetic counselling protects the individual from rushing into testing recognising that there are implications to having personal genetic knowledge. This chapter explains how genetic counselling is a psychological challenge, which emanates from the interaction between the nature of genetics and the individual. There is a challenge which is innate in addressing genetic issues, but the individual perception is a key factor in determining whether the challenge is experienced as a stress. This in turn governs how the individual approaches and responds to genetic counselling.

Uncertainty and the effects of knowledge

Uncertainty is part of every day life experience, a normal anxiety about what might happen in the future. This is always the unknown territory of the imagination onto which the individual projects long-standing personal ideas and attitudes. When there is a genetically determined illness in a family, this existential anxiety may become exacerbated and the fear then becomes focused on the unpredictable genetic element of the illness. Some people will project their good luck and certainty that they are free from the genetic change, or that they will not be affected by illness.

The practice of medicine has a long tradition of making a diagnosis by building up a composite picture of the symptoms and their history, a clinical examination and specialist investigations. A diagnosis enables the course of the disease to be predicted and the appropriate treatment used. However, scientific developments in genetics, by allowing us to detect specific abnormalities in chromosomes and in individual genes, are beginning to throw light on the mechanisms involved at a biochemical and molecular level. As a result the genetic and environmental factors involved in many disorders can be separated. This has heralded the birth of the practice of clinical medical genetics, a relatively new speciality in the wide and general field of medicine. With this development not only is there is a new understanding of diseases, but also an alteration in the way medicine is practised. The availability of newly discovered genetic knowledge, to all who want it, has necessitated a shift in the dynamic between the individual patient and the professional. The days have gone when the doctor was the benevolent patriarch knowing the secrets of diseases and administering to the patient, the grateful receiver. Today, people want to take personal responsibility for their health and are encouraged to do so. There is a general interest in understanding health matters and a common desire to know about medical matters and this is validated by the individual's right of access to personal information. The individual now has choice.

Conversation and communication lie at the heart of genetic counselling. How well we are able to communicate will to a large extent determine how successful we are in providing answers to the questions and problems posed by those whom we see in genetic counselling practice. We hope and believe that we are already skilful in the processes involved but, at the same time, most of us recognise that we could do much better and can think of many occasions when we have been left with a sense of inadequacy, or even failure.

This book will be of great support to all involved in genetic counselling, giving both general and specific information that relates directly to its practice. The general themes explored will be especially helpful to those many people whose training has involved little theoretical knowledge of psychology and psychotherapy. By exploring this general background, notably attachment theory, in the specific context of genetic counselling, Christine Evans introduces the reader gently to the concepts involved. As a result, one comes to understand the fuller significance of factors that most of us have already intuitively recognised, but have not been able to name or relate to general principles. As she states in her preface, ‘It is a way of giving back to the world of genetics what actually belongs to it’.

The counsellor frequently has a family group in the consultation, a nuclear family, an extended family or multigenerational. The counsellor's practice will be enhanced by an understanding of how ‘the group’ is a unit to be thought of as a whole, yet made up of interacting parts. This chapter presents the core features of systemic thinking and its application to genetic counselling. It integrates this way of thinking with that of the earlier chapters, in particular attachment theory, in order to provide a consistent theoretical base for working in genetic counselling.

The clinical practice of genetic counselling includes in its orbit the psychosocial context of the family history of relationships and looks at how individual members of a family interact together and mutually affect one another. It looks at the communication patterns of particular members of a family, their emotional links and how the story of the gene is spoken about in the family life cycle. This immediately introduces systemic thinking, yet with notable exceptions (Eunpu, 1997), it has not been widely used in genetic counselling. Indeed some counsellors are rather intimidated by systemic theory which can at times be complicated and philosophical in its discussions and seem far removed from the distressing problems experienced by families.