Individuals, Families, and the New Era of Genetics: Biopsychosocial Perspectives

One could describe the stage of biomedical progress that is currently upon us as a genomic revolution: we have recently completed the Human Genome Project; we are witnessing the acceleration of the International HapMap project devoted to elucidating common variations in the human genome; and we are entering an exponential phase in our understanding of the relationship between these genomic patterns and human disease, disease susceptibility, and therapy. And there is no end in sight. This opens up extraordinary possibilities for protecting and restoring health, possibilities that were unimaginable even a few years ago.

This is heady stuff, but before we are swept away on a wave of optimism, we should acknowledge that even as the pace of progress in genomics accelerates, so also accelerates the gap between our understanding of the genetic basis of disease and our ability to use this understanding to actually improve health. Genetic information as it is emerging has a different structure than what we are used to. It is probabilistic, multifactorial, interactive, and has a long time axis. It is ramified. It is complicated. Already we know how to use only a little of what we know, and this problem is getting worse. Clinicians are hard pressed to explain genetic information simply but accurately. Patients sometimes respond in surprising and counterintuitive ways. Families hardly know how to cope with news that will fundamentally alter their lives 50 years hence or that may (or may not) drastically affect them tomorrow. Employers and insurers and law enforcement officials argue for access to information that will help them do their work better, over the objections of those whose privacy is thereby violated. Thus, the genetic revolution contains within it both the seeds of hope for dramatic improvements in health and a growing sense of dread at the waves of unmanageable information that complicate our lives and bring unexpected consequences. As genetic information rapidly accumulates, one can sense a growing hunger in the health care community for an organizing framework that can tame this material, rendering it more useful and less dangerous.

This is psychiatry’s business for at least three reasons. First, psychiatric disorders are proving to have as conspicuous a genetic component as all other diseases, and psychiatry is thus joined with all of medicine in having to come to terms with this new reality. Second, psychiatry and the other mental health professions have something uniquely valuable to offer people who are coping with massive, overwhelming life events, such as genetic news sometimes is. (Psychiatry has something valuable to offer to the problems of genetic counseling, even when the problems are not massive and overwhelming.) Third, three decades of work undertaken within the field of medical family therapy has led to the development of theoretical models and clinical approaches that can be adapted to even the most difficult and elusive problems in medical genetics. Thus, this hoped-for organizing framework could emerge from the world of mental health care.

Individuals, Families, and the New Era of Genetics: Biopsychosocial Perspectives comes to us from four co-editors who work in the worlds of psychiatry, medical family therapy, family medicine, genetic counseling, and nursing. This book serves up just about exactly what we need in order to deal with the flood of genetic information pouring over the transom. More than anything else it gives clinicians, educators, and researchers a way to think about genetic information as it applies to people’s lives and patients’ health. It succeeds beyond expectations.

This book takes on three tasks: it offers a theoretical structure into which clinicians can fit the issues that arise when counseling individuals and families dealing with genetic problems; it reviews and interprets the genetic dimension of nine specific medical conditions; and it takes us through the ethical, legal, policy, and professional issues associated with genetic considerations.

The theoretical chapters are exceptionally well done. It turns out that genetic information is different than we thought it would be and is different than other clinical information. Even simple Mendelian genetic conditions are not simple, modified as they are by variations in penetrance, by variable latencies, by interactions with other conditions, by differences in health behaviors, and by simple unexplained variation in expression. Genetic information tends to be stochastic, and a certain level of medical literacy, numeracy, and probabilistic thinking is required to understand it. Sometimes the information is available decades before a condition manifests, during which time patients may or may not be able to affect their course, and during which time they will pass through a number of life events and stages. Add to this the extraordinary variability in people’s decision making and coping styles, their baseline knowledge about genetic concepts, their perceived risk (a notion surprisingly resistant to correction), their family resources and functioning, and the unprepared clinician hardly knows how to begin. This book organizes these and other variables into the so-called FSGI, or Family Systems Genetic Illness model, which is an extension of Rolland’s Family System Illness model. This model, which has been in use for over 20 years, was first formulated for use with chronic diseases. It first classifies disorders in terms of the psychosocial demands they make, according to the onset of symptoms, course, outcome, extent of incapacitation, and degree of uncertainty. On this pattern is overlaid the time phase of the illness and certain key family patterns. To all this is now added those elements thought to be unique in genomic illness, and that frequently occur presymptomatically, such as the likelihood of developing a genetic illness, its severity, timing of onset in the life cycle, and treatability. This typology can also accommodate the carrier state, in which someone may not be personally affected, but offspring are at risk. This whole structure is less unwieldy than it sounds and provides a comprehensive and comprehensible psychosocial platform from which the important variables for a given scenario quickly emerge.

The selection of specific conditions (Huntington’s disease, cystic fibrosis, breast cancer, colorectal cancer, lung cancer and smoking susceptibility, prenatal testing, type I diabetes mellitus, cardiovascular disease, and schizophrenia) pretty much covers the spectrum in terms of likelihood, penetrance, latency period, age of affected, complexity of inheritance, and extent of environmental influence. These chapters are consistently solid in terms of their review of the genetic issues, and all of them deal, more or less, with psychosocial issues. They do not all hew to the FSGI framework outlined, thereby missing an opportunity to reinforce this model and bring it to life for the uninitiated reader. Nevertheless, one comes away from this section with a solid grip on the current state of the clinical genetics of common disorders and with a sense of how individual and family behavior converges around certain common themes, such as reproductive decisions and role changes attendant upon positive or negative genetic testing.

It turns out that a lot of work has already been done on the ethical, legal, and policy dimensions of clinical genetics, and this material is reviewed succinctly and expertly here. As one previously unexposed to this material, this alone was worth the price and effort of the entire book. The last chapter, dealing with professional collaboration, benefits from the deep experiences of some of the authors in developing primary care/mental health care collaborations, and that experience maps well to this material. A very serious and complex case is used to illustrate the principles of collaboration between a primary care physician, a clinical geneticist, and a mental health professional. This is an appropriate way to get at some of the more difficult issues succinctly, but this collaboration will undoubtedly require a lot of work before roles are sufficiently clear, access is secure, and communication is good. One longs to know how these three partners would organize around less complex or demanding problems. Also, one of the most common and difficult predicaments for a primary care clinician is the absolute or relative unavailability of specialist consultants, and dealing with genetic problems under such conditions will need to be worked out. Likewise, the limits of competence that can be expected from a psychiatrist or counselor absent geneticist consultation will need to be explored and described.

Taken as a whole, this book is a tour de force . I believe there is no better source of orientation, information, and good judgment about clinical genomics and genetics than is found between these covers.