Preliminary: Genetics in healthcare today
What do we mean by āgenetic counsellingā?
History and development of genetic counselling
Constructing a family tree
Diagnostic information
Genetic risk estimation
Basis of risk estimation
Communication and genetic counselling
Backup to genetic counselling
Support in the context of genetic counselling
Preliminary: Genetics in healthcare today
Scope of genetics in medicine
The context of healthcare is changing rapidly, with genetic aspects of medicine receiving progressively more prominence. Much disease is caused by a complex interaction between a personās genes and their environment over time. This may be thought of as an interaction between the personās genes, their environment and their experience, from conception onwards. This perspective broadens the scope of genetics within medicine from disease that is primarily genetic in origin to include much else as well.
A question for this volume is how far the recent development of genetics as a biomedical science plays out in the practice of genetic counselling and clinical genetics. It is apparent that the new high-throughput, genome-wide technologies of microarray and āmassively parallelā sequencing have enormously increased the information we can generate about genetic variation across the genome, but the information it yields is still applied one gene at a time. The approach in this edition ā which will have to be reassessed for future editions ā is that the new technologies provide a much more rapid way of identifying the genetic variant underlying a Mendelian or chromosomal disorder. However, an integrative, whole genome analysis of a patient is not yet available in the clinic. The search for specific genetic variants can be relevant to the selection of appropriate therapies for some patients, but this, again, is usually worked through one variant at a time and not in an integrated, whole genome approach because the working out of gene-gene and gene-environment interactions remains enormously challenging. Research based on this additional, genome-level information is proving enormously fruitful but has not yet reached simple clinical application: its immediate clinical utility is limited.
This book aims to set out a clinical approach to genetic disease that addresses the whole person in their family context. This has long been the aim of clinical genetics services, both clinical genetics and genetic counselling, and it is important that we do not lose sight of this in the flurry and excitement of data generated by the new genome-wide technologies. We need to use the new technologies to answer the old questions more thoroughly and more rapidly but should not be distracted by results with no clear interpretation.
While the new tools generate more and more information, our task remains to help patients and family members make sense of what their genetic analysis means for each as an individual. In addition to the ātraditionalā patients in the genetic counselling clinic, with clearly inherited disease, genetics services are now also seeing patients who have had genomic investigations yielding additional or unanticipated findings and results of uncertain significance. We must all grow accustomed to investigations generating results that are potentially important despite being unconnected with the problem that triggered the investigation. Clinical genetics services then help patients to understand their results, both what they mean for the patient and what they mean for their relatives. Where there is no certainty, they may need both an explanation of, and support to deal with, the lingering uncertainties.
Far from clinical genetics services becoming outdated as genome-wide testing moves into the medical mainstream, they are becoming appreciated as a powerful resource that enables and supports the appropriate application of the new technologies.
What do we mean by āgenetic counsellingā?
Although many people working in the field of medicine are familiar with the term āgenetic counsellingā and have some idea what it means, many other professionals and even more patients and families are confused by the term. Closer enquiry among patients and colleagues shows a wide variation in peopleās concepts of what the process of genetic counselling actually entails. Some envisage an essentially supportive ā even psychotherapeutic ā role, akin to that of counselling processes in the social field; others see genetic counselling as primarily concerned with special diagnostic tests in inherited disease; yet others regard it as a complex mathematical process involving the estimation of risk.
All these views of genetic counselling contain a considerable element of truth, but none fully identifies what the overall process of genetic counselling actually involves. Even within the group of professionals for whom genetic counselling is a major activity, there are varied opinions as to its proper role and scope, but in essence it is a composite ā hybrid ā activity, made up of a series of key elements that individually are very different, but which together constitute a process that is highly distinctive in its character and its ethos.
Previous editions of this book have given various definitions of genetic counselling, but none of them is entirely satisfactory. Two approaches will be used to clarify this: we describe the activities that constitute āgenetic counsellingā and then refer to a recent and widely cited definition of genetic counselling.
The elements of genetic counselling as practised are as follows:
1.Initially listening to the questions and concerns of the patient or family and establishing a relationship with appropriate empathy.
2.Addressing the diagnostic and clinical aspects, including the gathering of information from the patient and family and the checking and documentation of important clinical information about the patient, and also about family members. This may occur in the process of a ...