Title: Quality issues in clinical genetic services edited by Ulf Kristofferson, Jörg Schmidtke, and Jean-Jacques Cassiman
Abstract: During the past two decades, interest in quality management has increased throughout the health care sector. Meanwhile, the technical ability to perform genetic testing and interpretation of the results have progressed rapidly, leading to increased demand by clinical geneticists and patients for these tests. Furthermore, new test techniques are emerging. The evaluation of all aspects of the services provided and results achieved compared with accepted standards within the framework of (inter)national regulations is therefore also warranted in the field of clinical genetics. Quality Issues in Clinical Genetic Services aims to support professionals who wish to implement quality management in order to improve the quality of services provided by the genetic clinic and/or laboratory. For this purpose, the editors have asked experts in the field to address a variety of quality issues. This effort has resulted in 39 chapters written by 60 authors.
The first 14 chapters provide an informative global overview of quality and regulation issues for clinical genetic services. Perspectives from the standpoint of Europe, the UK, Canada, Australia, USA and Latin America are included. Chapter 1 summarizes the efforts of the ambitious EuroGentest Network of Excellence (NoE) which aims to improve quality and harmonize standards for clinical genetic services in Europe. The author concludes that the efforts of the EuroGentest NoE have already had a substantial impact on clinical genetic services, for instance with respect to external quality assessment for genetic laboratories. However, as far as the genetic clinic specifically is concerned, the impact of the EuroGentest NoE's efforts is still meagre. Chapter 7 describes the UK perspective and points out that it is relatively easy to identify tangible measurables for genetic laboratories but that this is more difficult for genetic clinics. Measurement of markers associated with quality of the latter, such as time until post-clinic letters are received, is possible. However, measurement of the quality of a consultation is complex. In the UK, debate on this and related subjects is still ongoing.
The subsequent chapters cover a variety of topics, some of which extend beyond the general scope of clinical genetic services but may nevertheless affect their effectiveness. Two such topics are the quality of genetic screening and direct-to-consumer (DTC) testing, respectively. The former chapter explains why an integral approach focussing on ethical and economical aspects in addition to the quality of the laboratory service and the impact on public health is needed to evaluate the quality of genetic screening programmes. The latter chapter points out that the most important step to protect consumers from unreliable DTC genetic tests is to revise Europe's Medical Devices Directives in line with the new Protocol to the Council of Europe's Convention on Human Rights and Biomedicine (Council of Europe 2008).
Chapters 29 to 34 which focus specifically on the quality of different types of genetic testing are preceded by an excellent generic chapter on quality management systems and accreditation for genetic laboratories. Such a global overview for the genetic clinic including the inherent difficulties related to adequate quality markers would have been valuable as an introduction to or a replacement of the final chapters focussing on (the quality of) genetic counselling for the following disease categories: rare, late-onset, common and low-penetrance disorders. These categories are confusing because many genetic disorders can be assigned to more than one of these groups.
This book is an important compilation of issues pertaining to the quality of the genetic clinic and laboratory because it may serve both as a concise reference work and as an informative introduction to the topic, depending on the reader's background. However, the writing style and the use of certain terms are inconsistent throughout the book. ‘Clinical genetic service’ for instance refers to the genetic clinic, the laboratory or both. Therefore whether a specific discussion concerns one or both may sometimes be difficult to discern. These inconsistencies are probably due to the large number of authors. The addition of one or more introductory chapters explaining the book's scope, describing how and why certain topics were selected and outlining the basic concepts and issues of quality management would improve its readability.
In summary, Quality Issues in Clinical Genetic Services is a comprehensive and valuable compendium of quality issues presented by leading experts in the field. The book should be of interest to a wide range of readers: clinical geneticists, genetic counsellors, laboratory geneticists, researchers, healthcare managers, policy advisors of specialist societies, policy makers and other stakeholders around the globe. Hopefully, in further printings of this deserving book, the aforementioned minor shortcomings will be addressed.