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New Clinical Genetics, Andrew Read and Dian Donnai (Eds.)

Article  in  Journal of Genetic Counseling · February 2009

DOI: 10.1007/s10897-008-9188-6

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Myra I Roche
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J Genet Counsel (2009) 18:103–104
DOI 10.1007/s10897-008-9188-6
BOOK REVIEW
New Clinical Genetics, Andrew Read and Dian Donnai (Eds.)
Scion Publishing Limited, Oxfordshire, UK, 2007, ISBN 9781904842316,
428 pp., $54.95 Paperback
Myra I. Roche
Received: 2 August 2008 / Accepted: 5 August 2008 / Published online: 22 August 2008
# National Society of Genetic Counselors, Inc. 2008
A textbook designed to teach clinical genetics to medical
students must accommodate a chimeric audience. On one
hand, the students, visibly overwhelmed by the amount of
information to be learned but with little time to do any of it
justice, quickly learn to spotlight their attention on topics
with the most direct, clinical relevance to their future
practices. On the other hand, those who teach medical
genetics may resent the incessant demands that they
continually showcase the clinical aspects but keep the
science hidden behind the backstage curtains.
Traditionally, medical genetics textbooks have intro-
duced every member of the genomic cast in almost
excruciating, chemical detail before allowing the audience
to catch even a glimpse of the action. Subsequent
generations of textbooks have inverted this structure by
first hooking the audience's interest in the plot (the case
history) before introducing the characters. But just as too
much character development leaves the audience restless,
too little exposition leaves their understanding teetering on
such wobbly, scientific scaffolding that it crumbles when
the house lights finally go up (exam time). Their memory of
medical genetics growing as dim as a dying Tinkerbell,
students blithely exit the theater doors at graduation truly
believing that their chance of encountering a patient with a
genetic disease is equivalent to the chance that an
audience’s applause can rescue a green pixie.
Professors Andrew Read and Dian Donnai, in their
textbook, New Clinical Genetics, have done a remarkable
job of catering to the demands of both sides of their
M. I. Roche (*)
Department of Pediatrics,
University of North Carolina-Chapel Hill,
CB #7487, Chapel Hill,
NC 27599-7487, USA
e-mail: Myra_Roche@med.unc.edu
chimeric audience while striking a sane balance between
clinical and scientific perspectives. A scientist and a
clinician, respectively, they steer the reader along a
challenging path punctuated by multiple switchbacks to
the clinic, the research bench, and then back again. Their
realistic and humane portraits of the clinical scenarios,
carefully chosen for their relevance, will ring true to the
genetic counselor’s ear. And they have shown remarkable
wisdom by replacing the standard, yet distressing, black
and white photos portraying patients as clinical specimens
with those that, for the most part, show patients as people
first.
Reading New Clinical Genetics is analogous to reading a
well-written, although complex, play with 14 acts, 50
scenes, as told from 26 different perspectives and supported
by a genomic cast of thousands. The chapters are logically
ordered and build from the more familiar to the more
complex concepts. Each chapter is organized into six
sections that consistently begin with the case histories and
end with references (Section 5) and self-assessment ques-
tions (Section 6) for which “guided answers” are provided.
Incongruously, for a text with such a strong clinical
emphasis, the questions test students' understanding only
of the scientific principles.
The cases in Section 1 describe the patients’ symptoms,
the family histories, and the suspected diagnoses. Section 2
provides the relevant background needed for understanding
Section 3 which explains the techniques used to investigate
each case. In Chapter 2, for example, the three case
histories (VFC, Down syndrome and Turner syndrome)
segue into an explanation of how karyotypes are generated
and a description of chromosome structure and function.
Concise figures and text boxes sequester the main points
and students will delight in the just-in-time summaries that
beg to be memorized for the exam.
104
Section 3 revisits the cases presented in Section 1 and
adds other cases from previous chapters to show the
application of the appropriate techniques. In Chapter 2, a
routine karyotype confirms Down syndrome and Turner
syndrome, but is normal in the proband with VCF (readers
are directed to Chapter 4 for an explanation of FISH which
clinches the diagnosis). Section 4 presents more detailed
concepts such as the function of chromatin and ends with
an illustrative clinical example, in this case, of mutations in
ATRX that affect chromatin structure.
The book’s content is based upon the Medical School
Core Curriculum in Genetics (ASHG) and the List of
Competencies (UK NHS Genetics Education Centre) and
successfully addresses these knowledge requirements. Still,
some significant gaps remain. The book lacks a true
discussion of genetic and environmental disruptions of
growth and development, including syndromes and birth
defects, and inexplicably omits fragile X syndrome. The
sections on inborn errors of metabolism and the manage-
ment and treatment of genetic conditions lack appropriate
depth. The unorthodox choice to focus the PKU case study
on an untreated child wastes the chance to highlight issues
about newborn screening, dietary management and the
unexpected consequences of screening that PKU best
illustrates. The authors’ decision to converge all of the
cases in the last chapter makes for a convenient ending but
the emphasis on prenatal diagnosis may cause students to
over-estimate its importance to all families.
The book’s disappointingly weak treatment of genetic
counseling can be explained, in part, by the equally weak
expectations from the ASHG guidelines that merely
recommend that its purpose be defined and partially by
differences in genetic counseling practice between Britain
and the USA. By relegating the topic of genetic counseling
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Roche
to the end of the book, a common practice for human
genetics textbooks, the authors squander the perfect
opportunity to interweave the counseling issues and
communication strategies into each case as it is presented
to show students how the goals and tools of genetic
counseling are applied inside and outside the clinic. A
more cathartic dénouement of the cases would be to
provide, minimally, a list of counseling and management
issues, recommendations for follow-up, and examples of
family support organizations and services. By placing
genetic testing as the climax of the case histories, the roles
of clinical diagnoses, counseling, and anticipatory guidance
are treated as anti-climatic, even when genetic testing fails
to provide an answer.
The final crucial element for any effective instruction is
the appropriate delivery method. Although the multiple
story lines in this book reflect true clinical practice, the
nature of a book’s rigid, linear structure consistently
frustrates any student who attempts to proceed in any way
other than from beginning to end. This punctuated
instructional style would be better suited to a computer-
based delivery because all of the clever aids in the world
cannot compete with every reader’s fantasy that active links
will magically appear and effortlessly fly them to the right
section (Pixie dust not included).
In summary, the authors should be commended for writing
a book that allows those of us who teach medical students
(and others) a mechanism to convey our own interest and
excitement about clinical genetics. But by minimizing the
contributions of genetic counselors to the delivery of clinical
genetic services, the authors have failed to teach students a
primary lesson: how families with genetic conditions can
receive optimal care. If a future edition reflects this reality,
the authors will deserve a standing ovation.