- Email: [email protected]
The art of genetic counseling
Resource
BOOK REVIEWS
The genetics of... leash-biting? Genetics and the Social Behavior of the Dog by John Paul Scott and John L. Fuller University of Chicago Press, 1965 and 1998. $21.95 pbk (XVIII 1 468 pages) ISBN 0 226 74338 1
Mark Neff neff@ uclink4.berkeley.edu Sabrina Hom s_hom@ uclink4.berkeley.edu Division of Genetics, Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA.
For 13 years, John Paul Scott and John Fuller operated a ‘school for dogs’ at the Jackson Laboratory in Bar Harbor, Maine. During that time, more than 500 animals passed through their kennels. The dogs were nurtured, observed and tested for the first 100 days after birth in an effort to understand how heredity influences the organization of mammalian social behavior. The project consisted of two major experiments. The first was a behavioral survey of five breeds. From this, Scott and Fuller formulated a working hypothesis that genetics defines discrete developmental stages, including ‘windows of opportunity’ when behavioral centers in the brain are forming. During these critical periods, behavioral centers are competent to respond to instructive environmental events, with lasting effects on the animal’s behavior. This view prompted the second major experiment – a set of mendelian crosses between two purebred lines to investigate innate differences. The results of Scott and Fuller’s work were reported in The Genetics and Social Behavior of the Dog, which first appeared in 1965 and has recently been re-released. Since its first printing, the book has taken on an almost biblical importance to dog breeders and fanciers. Although the book has some redeeming qualities, generally it falls short of its lofty reputation. The book suffers from poor organization and, at times, from loose scientific
reasoning. Because the authors tried to appeal to too broad an audience, the reader is constantly switching gears between quantitative analyses and anecdotal observations. This lack of continuity unfortunately obscures a worthwhile experimental perspective – that behavioral ontogeny is genetically rooted, and that most modifications involve raising or lowering release thresholds. Especially disheartening (to geneticists and evolutionary biologists) is the set of behaviors chosen for study. Dog breeds have been established, at least partially, through selection for robust action patterns such as pointing, retrieving and herding. It follows that the genetic architecture of these traits is relatively simple, as is typically the case with artificially selected traits (e.g. in maize). Moreover, breed-specific patterns have a narrow norm of reaction and show low variance in purebred populations, making them particularly well suited for genetic dissection. Yet Scott and Fuller chose instead to focus on emotionality, temperament and performance aptitudes, staying true to their backgrounds in human psychology. Many of their behavioral assays, which were presumably meant to reflect ‘personality’ traits, were not placed in enough of a context for the reader to fully appreciate (e.g. leash biting, balking at stairs and so on). As a consequence, interest wanes over the course of the book. The book does, however, document some intriguing findings. For instance,
The art of genetic counseling A Guide to Genetic Counseling edited by D.L. Baker, J. Schuette and W. Uhlmann Wiley & Liss, 1998. $79.95/$49.95 hbk/pbk (433 pages) ISBN 0 471 18867 0
Barbara Bowles Biesecker barbarab@ nhgri.nih.gov Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892-1652, USA. 288
This guide to genetic counseling is a much-anticipated textbook on the tools of the profession. Leaders in genetic counseling, including several graduate program directors and clinical supervisors, authored each chapter. The text addresses genetic counseling tasks such as history taking, case preparation, documentation and counseling skills in an inviting format. Genetic counseling instructors and supervisors will find it a useful teaching resource. The lists for case preparation, the clinical evaluation forms
TIG July 1999, volume 15, No. 7
and the case discussions will prove beneficial. A highlight of the text is the history of the profession summarized elegantly by Ann Walker. Her substantial involvement in the origins and evolution of the field brings life to the narrative. In Chapter 6, Luba Djurdjinovic considers psychosocial theory and practice in a compelling manner that deviates from the emphasis of the rest of the text. It focuses expertly on the theory behind the art of genetic counseling and paves the way for a
the difference in ‘barkfullness’ between two breeds was consistent with a single gene model, and differences in both the seasonality and frequency of estrus were, most likely, due to a small number of genes. Because of the project’s long duration, some important generalizations could also be stated, the most notable of which was the existence of a critical period for socialization in dogs. This finding was significant because it extended the concept of imprinting (described in birds by Konrad Lorenz 25 years earlier) to mammals. Although Scott and Fuller’s data fall short of actually demarcating this temporal window, the data for the period’s existence are nonetheless compelling. Unfortunately, there is no discussion of possible breed differences in the timing or threshold of socialization that could allow genetic analysis. The authors also do not discuss the possible importance of hereditary differences in socialization between the domestic dog and its wild progenitor, the wolf. Was expansion of the socialization window through mutation a major step in the domestication of dogs? Perhaps the most rewarding aspect of the book is its ambience. Genetics and the Social Behavior of the Dog provides a lot of opportunities to ponder the basis of behavior, and in so doing takes us back to a scientific climate very different from the present. The gap has widened between biology and nature in the last 35 years, and funding competitiveness further restricts long-term projects and experimental risk-taking. So although Scott and Fuller’s 13-year project might not have lived up to expectations, we think young biologists will admire the authors’ audacity and be envious of their opportunity.
more in-depth text on psychotherapeutic aspects. Such a book is forthcoming, authored by Jon Weil (pers. commun.). There is an emphasis in the guide on careful gathering and communicating of facts, backed by detailed attention to history taking, case preparation and documentation. While critical, in practice, these components need to be balanced with the opportunity to explore the meaning of the information with the patient. The conflict between the primarily educational and psychological models of genetic counseling pervades in the field1 and this textbook captures it, although inadvertently. The daunting tasks and responsibilities of counselors in caring for patients impress the reader. To complete, document and assess a history; anticipate needs and prepare a case; 0168-9525/99/$ – see front matter © 1999 Elsevier Science All rights reserved.
BOOK REVIEWS
determine and communicate a risk; identify potential resources; advocate for the patient in the health care setting and interview the patient in a culturally sensitive manner, leaves little room to establish a therapeutic relationship and address the emotional impact of the information or facilitate complex decision making. This tension could have been addressed more directly in the text. An acceptable model for genetic counseling will depend in large measure on the goals of counseling and will continue to unfold as the profession evolves to meet patient needs. Assessment of the efficacy of genetic counseling will depend increasingly on research into the process and its outcomes. While the chapter on genetics education includes theory and related literature, it falls short in its attention to several educational challenges faced by genetic counselors. The section on risk communication minimizes a substantial literature that demonstrates the difficulty of influencing risk perception. While there is mention of the hazards of overwhelming patients with information, there is limited discussion of techniques
to help counselors establish priorities and reasonable agendas with their patients. Also, the challenge of presenting a balanced picture of a condition that a patient has never personally experienced is not pursued. Finally, discussion of whether or not the patient is served responsibly by counseling that focuses on patients’ feelings and reactions, and sacrifices communicating aspects of the genetic information, would have been welcome. One textbook cannot serve all needs of the profession, but these editors are to be applauded for compiling an excellent basic resource. The guide is not intended to provide an overview on the substance of genetic counseling, such as clinical or molecular genetics or even new technologies and their application. Instead, it focuses on issues such as ethics and professionalism. An oversight in the text is discussion of the role of disability in genetic counseling. Exposure to the needs and rights of persons with a disability is an important aspect of genetic counseling training. Review of the disability rights movement, relevant legislation
Gene therapy: a decade shows that smart weapons are not so smart The Development of Human Gene Therapy by Theodore Friedman Cold Spring Harbor Laboratory Press, 1998. $134 hbk (729 pages) ISBN 0 87969 528 5
A decade after the first officially sanctioned trials of gene therapy opened, Theodore Friedman feels the time is right to trace the evolution of the field and where it might go. Although he might perfer to be regarded as the cool voice of reason, he also cannot resist the chance for us to be reminded that he was one of the first in print to dream the dream of corrective gene transplants in the early 1970s (amusingly, French Anderson trumps this later in the volume with a story about a paper on the same topic he sent in 1968 to the New England Journal of Medicine but which was rejected as ‘too speculative’). There are already a number of books (and indeed a series of international journals) devoted to the nuts and bolts of gene transfer and the results of clinical trials (the ‘how’ and ‘what’), and one might hope that an individual as well connected and well informed as Friedman might give us 0168-9525/99/$ – see front matter © 1999 Elsevier Science All rights reserved.
the inside story on the ‘why’ and ‘where now’ of genetic approaches to therapy – even an exposure of the human element, as it is evident that there is no shortage of ‘characters’ in the field. I think that if he had written the whole book himself he could have done, but what we have is an assembly of contributions on the usual line-up of vectors and disease targets with just a few individuals prepared to push the envelope of what is already familiar ground. Friedman himself tells stories that newcomers to the field may not have heard about the early pioneers on the wild frontiers of genetic intervention – indeed, the gung-ho application by Stanfield Rogers of Shope papilloma virus to patients with arginase deficiency in the early 1970s was news to me. Representing the novelties, Doug Jolly does a typically efficient job of critically analysing emerging viral vector technologies, and there are
Resource
as well as educational and community resources would be a helpful addition to this otherwise comprehensive overview. It is refreshing to see a current genetic counseling text written by genetic counselors. Every genetic counseling graduate student should own a copy of this book. In addition to genetic counseling students, nurses and social workers interested in the practice of genetic counseling will benefit from this guide. The practice of genetic counseling has reached a milestone where teaching by oral history and apprenticeship are insufficient to train new providers. This textbook marks the beginning of a new era in the professional literature on genetic counseling. Growth and maturity in the profession invites additional texts.
Reference 1 Kessler, S. (1997) Psychological aspects of genetic counseling. IX. Teaching and counseling. J. Genet. Counsel. 6, 287–295
interesting explorations of public policy (Wivel and Anderson) and ethical issues (Juengst and Walters). The book is let down by amateurish illustrations – indeed, hand-drawn in many cases – and sloppy editing (the original Endnote citation numbers survive into the printed volume in several cases, and other work is simply not cited at all). There is little in this volume that has not been published elsewhere in a more digestible and accessible form, and this is disappointing.
Letters to the Editor We welcome letters on any topic of interest to geneticists and developmental biologists. Write to: The Editor [email protected] Fax 01223 464430 Trends in Genetics, Elsevier Trends Journals, 68 Hills Road, Cambridge, UK CB2 1LA.
TIG July 1999, volume 15, No. 7
Nicholas R. Lemoine [email protected] ICRF Molecular Oncology Unit, Department of Cancer Medicine, Imperial College School of Medicine, Hammersmith Campus, Du Cane Road, London, UK W12 0NN. 289
BOOK REVIEWS
The genetics of... leash-biting? Genetics and the Social Behavior of the Dog by John Paul Scott and John L. Fuller University of Chicago Press, 1965 and 1998. $21.95 pbk (XVIII 1 468 pages) ISBN 0 226 74338 1
Mark Neff neff@ uclink4.berkeley.edu Sabrina Hom s_hom@ uclink4.berkeley.edu Division of Genetics, Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720, USA.
For 13 years, John Paul Scott and John Fuller operated a ‘school for dogs’ at the Jackson Laboratory in Bar Harbor, Maine. During that time, more than 500 animals passed through their kennels. The dogs were nurtured, observed and tested for the first 100 days after birth in an effort to understand how heredity influences the organization of mammalian social behavior. The project consisted of two major experiments. The first was a behavioral survey of five breeds. From this, Scott and Fuller formulated a working hypothesis that genetics defines discrete developmental stages, including ‘windows of opportunity’ when behavioral centers in the brain are forming. During these critical periods, behavioral centers are competent to respond to instructive environmental events, with lasting effects on the animal’s behavior. This view prompted the second major experiment – a set of mendelian crosses between two purebred lines to investigate innate differences. The results of Scott and Fuller’s work were reported in The Genetics and Social Behavior of the Dog, which first appeared in 1965 and has recently been re-released. Since its first printing, the book has taken on an almost biblical importance to dog breeders and fanciers. Although the book has some redeeming qualities, generally it falls short of its lofty reputation. The book suffers from poor organization and, at times, from loose scientific
reasoning. Because the authors tried to appeal to too broad an audience, the reader is constantly switching gears between quantitative analyses and anecdotal observations. This lack of continuity unfortunately obscures a worthwhile experimental perspective – that behavioral ontogeny is genetically rooted, and that most modifications involve raising or lowering release thresholds. Especially disheartening (to geneticists and evolutionary biologists) is the set of behaviors chosen for study. Dog breeds have been established, at least partially, through selection for robust action patterns such as pointing, retrieving and herding. It follows that the genetic architecture of these traits is relatively simple, as is typically the case with artificially selected traits (e.g. in maize). Moreover, breed-specific patterns have a narrow norm of reaction and show low variance in purebred populations, making them particularly well suited for genetic dissection. Yet Scott and Fuller chose instead to focus on emotionality, temperament and performance aptitudes, staying true to their backgrounds in human psychology. Many of their behavioral assays, which were presumably meant to reflect ‘personality’ traits, were not placed in enough of a context for the reader to fully appreciate (e.g. leash biting, balking at stairs and so on). As a consequence, interest wanes over the course of the book. The book does, however, document some intriguing findings. For instance,
The art of genetic counseling A Guide to Genetic Counseling edited by D.L. Baker, J. Schuette and W. Uhlmann Wiley & Liss, 1998. $79.95/$49.95 hbk/pbk (433 pages) ISBN 0 471 18867 0
Barbara Bowles Biesecker barbarab@ nhgri.nih.gov Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892-1652, USA. 288
This guide to genetic counseling is a much-anticipated textbook on the tools of the profession. Leaders in genetic counseling, including several graduate program directors and clinical supervisors, authored each chapter. The text addresses genetic counseling tasks such as history taking, case preparation, documentation and counseling skills in an inviting format. Genetic counseling instructors and supervisors will find it a useful teaching resource. The lists for case preparation, the clinical evaluation forms
TIG July 1999, volume 15, No. 7
and the case discussions will prove beneficial. A highlight of the text is the history of the profession summarized elegantly by Ann Walker. Her substantial involvement in the origins and evolution of the field brings life to the narrative. In Chapter 6, Luba Djurdjinovic considers psychosocial theory and practice in a compelling manner that deviates from the emphasis of the rest of the text. It focuses expertly on the theory behind the art of genetic counseling and paves the way for a
the difference in ‘barkfullness’ between two breeds was consistent with a single gene model, and differences in both the seasonality and frequency of estrus were, most likely, due to a small number of genes. Because of the project’s long duration, some important generalizations could also be stated, the most notable of which was the existence of a critical period for socialization in dogs. This finding was significant because it extended the concept of imprinting (described in birds by Konrad Lorenz 25 years earlier) to mammals. Although Scott and Fuller’s data fall short of actually demarcating this temporal window, the data for the period’s existence are nonetheless compelling. Unfortunately, there is no discussion of possible breed differences in the timing or threshold of socialization that could allow genetic analysis. The authors also do not discuss the possible importance of hereditary differences in socialization between the domestic dog and its wild progenitor, the wolf. Was expansion of the socialization window through mutation a major step in the domestication of dogs? Perhaps the most rewarding aspect of the book is its ambience. Genetics and the Social Behavior of the Dog provides a lot of opportunities to ponder the basis of behavior, and in so doing takes us back to a scientific climate very different from the present. The gap has widened between biology and nature in the last 35 years, and funding competitiveness further restricts long-term projects and experimental risk-taking. So although Scott and Fuller’s 13-year project might not have lived up to expectations, we think young biologists will admire the authors’ audacity and be envious of their opportunity.
more in-depth text on psychotherapeutic aspects. Such a book is forthcoming, authored by Jon Weil (pers. commun.). There is an emphasis in the guide on careful gathering and communicating of facts, backed by detailed attention to history taking, case preparation and documentation. While critical, in practice, these components need to be balanced with the opportunity to explore the meaning of the information with the patient. The conflict between the primarily educational and psychological models of genetic counseling pervades in the field1 and this textbook captures it, although inadvertently. The daunting tasks and responsibilities of counselors in caring for patients impress the reader. To complete, document and assess a history; anticipate needs and prepare a case; 0168-9525/99/$ – see front matter © 1999 Elsevier Science All rights reserved.
BOOK REVIEWS
determine and communicate a risk; identify potential resources; advocate for the patient in the health care setting and interview the patient in a culturally sensitive manner, leaves little room to establish a therapeutic relationship and address the emotional impact of the information or facilitate complex decision making. This tension could have been addressed more directly in the text. An acceptable model for genetic counseling will depend in large measure on the goals of counseling and will continue to unfold as the profession evolves to meet patient needs. Assessment of the efficacy of genetic counseling will depend increasingly on research into the process and its outcomes. While the chapter on genetics education includes theory and related literature, it falls short in its attention to several educational challenges faced by genetic counselors. The section on risk communication minimizes a substantial literature that demonstrates the difficulty of influencing risk perception. While there is mention of the hazards of overwhelming patients with information, there is limited discussion of techniques
to help counselors establish priorities and reasonable agendas with their patients. Also, the challenge of presenting a balanced picture of a condition that a patient has never personally experienced is not pursued. Finally, discussion of whether or not the patient is served responsibly by counseling that focuses on patients’ feelings and reactions, and sacrifices communicating aspects of the genetic information, would have been welcome. One textbook cannot serve all needs of the profession, but these editors are to be applauded for compiling an excellent basic resource. The guide is not intended to provide an overview on the substance of genetic counseling, such as clinical or molecular genetics or even new technologies and their application. Instead, it focuses on issues such as ethics and professionalism. An oversight in the text is discussion of the role of disability in genetic counseling. Exposure to the needs and rights of persons with a disability is an important aspect of genetic counseling training. Review of the disability rights movement, relevant legislation
Gene therapy: a decade shows that smart weapons are not so smart The Development of Human Gene Therapy by Theodore Friedman Cold Spring Harbor Laboratory Press, 1998. $134 hbk (729 pages) ISBN 0 87969 528 5
A decade after the first officially sanctioned trials of gene therapy opened, Theodore Friedman feels the time is right to trace the evolution of the field and where it might go. Although he might perfer to be regarded as the cool voice of reason, he also cannot resist the chance for us to be reminded that he was one of the first in print to dream the dream of corrective gene transplants in the early 1970s (amusingly, French Anderson trumps this later in the volume with a story about a paper on the same topic he sent in 1968 to the New England Journal of Medicine but which was rejected as ‘too speculative’). There are already a number of books (and indeed a series of international journals) devoted to the nuts and bolts of gene transfer and the results of clinical trials (the ‘how’ and ‘what’), and one might hope that an individual as well connected and well informed as Friedman might give us 0168-9525/99/$ – see front matter © 1999 Elsevier Science All rights reserved.
the inside story on the ‘why’ and ‘where now’ of genetic approaches to therapy – even an exposure of the human element, as it is evident that there is no shortage of ‘characters’ in the field. I think that if he had written the whole book himself he could have done, but what we have is an assembly of contributions on the usual line-up of vectors and disease targets with just a few individuals prepared to push the envelope of what is already familiar ground. Friedman himself tells stories that newcomers to the field may not have heard about the early pioneers on the wild frontiers of genetic intervention – indeed, the gung-ho application by Stanfield Rogers of Shope papilloma virus to patients with arginase deficiency in the early 1970s was news to me. Representing the novelties, Doug Jolly does a typically efficient job of critically analysing emerging viral vector technologies, and there are
Resource
as well as educational and community resources would be a helpful addition to this otherwise comprehensive overview. It is refreshing to see a current genetic counseling text written by genetic counselors. Every genetic counseling graduate student should own a copy of this book. In addition to genetic counseling students, nurses and social workers interested in the practice of genetic counseling will benefit from this guide. The practice of genetic counseling has reached a milestone where teaching by oral history and apprenticeship are insufficient to train new providers. This textbook marks the beginning of a new era in the professional literature on genetic counseling. Growth and maturity in the profession invites additional texts.
Reference 1 Kessler, S. (1997) Psychological aspects of genetic counseling. IX. Teaching and counseling. J. Genet. Counsel. 6, 287–295
interesting explorations of public policy (Wivel and Anderson) and ethical issues (Juengst and Walters). The book is let down by amateurish illustrations – indeed, hand-drawn in many cases – and sloppy editing (the original Endnote citation numbers survive into the printed volume in several cases, and other work is simply not cited at all). There is little in this volume that has not been published elsewhere in a more digestible and accessible form, and this is disappointing.
Letters to the Editor We welcome letters on any topic of interest to geneticists and developmental biologists. Write to: The Editor [email protected] Fax 01223 464430 Trends in Genetics, Elsevier Trends Journals, 68 Hills Road, Cambridge, UK CB2 1LA.
TIG July 1999, volume 15, No. 7
Nicholas R. Lemoine [email protected] ICRF Molecular Oncology Unit, Department of Cancer Medicine, Imperial College School of Medicine, Hammersmith Campus, Du Cane Road, London, UK W12 0NN. 289