How to cite this article: Huicochea-Montiel JC, Cárdenas-Conejo A, Cervantes-Díaz MT, Araujo-Solís MAJ. Insights about uncertainty in genetic counseling. Rev Med Inst Mex Seguro Soc. 2015;53 Suppl 3:S239-5.
Received: August 14th 2014
Accepted: September 1st 2015
Juan Carlos Huicochea-Montiel,a Alan Cárdenas-Conejo,a María Teresa Cervantes-Díaz,a María Antonieta de Jesús Araujo-Solísa
aDepartamento Clínico de Genética Médica, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Distrito Federal, México
Communication with: Juan Carlos Huicochea-Montiel
Telephone: (55) 56 27 69 00, extensión 22281
Genetic counseling is an information process to help people in the understanding and adaptation to the medical, psychological and family implications of the genetic contribution in diseases. This counseling encompasses all sorts of patients. This represents a challenge in the daily work of the medical geneticist, because giving information in a meaningful way to the patient and his family implies an emotional and psychological burden. Generally we can see two outcomes in the medical practice of genetics, which converge after a diagnosis process: 1) we can face the inability to reach a diagnostic conclusion or 2) we can establish or confirm a diagnosis with certainty, which is the main piece in the genetic counseling. However, in all the situations the uncertainty is a fact, since in the case of those individuals who come in for genetic counseling before symptoms appear or those in prenatal cases, the absence of clinical manifestations and the impossibility to change the course of events lead to the appearance of helplessness and despair. In those cases without diagnostic conclusion, this situation represents a reason for uncertainty, and even in those patients with a diagnosis, certain factors can modify the circumstances in which genetic counseling occurs, such as unpredictability or lack of control. Therefore, it is important to consider the management of uncertainty as an inherent part throughout the process of care in medical genetics. The teaching of medical genetics should also consider the inclusion of topics related to this circumstance.
Keywords: Genetic counseling, Uncertainty.
The medical geneticist has a field of action that can be varied. Currently it is not limited to the field of mental retardation and dysmorphology but can encompass care for patients with problems that start in adulthood, as well as various complex diseases, including cancer and the common cardiovascular diseases. Another important area to be taken into account when discussing the role of the clinical geneticist is care given in the area of reproductive and prenatal health.1
As in any other area of medicine, the result of the patient-physician interaction in medical genetics is not exempt from being affected by the influence of uncertainty, which can happen at any time during the process of care in the clinical area.
Medical uncertainty, that is, the lack of certainty about how to proceed against a person’s health problem, can come from a wide variety of possible situations in daily clinical practice. The feeling of stress or discomfort it creates is a known constant, but can vary in intensity. It is similar to the experience of indecision or indecisiveness in everyday life, but with additional responsibility for the patient. Besides increasing concerns about patient safety and medical liability, it is also likely that uncertainty contributes to the overall cost of health care due to an increase in tests requested. It is therefore important to learn to manage uncertainty.
Some researchers have argued that uncertainty is primarily a function of knowledge acquisition, processing, and memory, and they say its origin is insufficient resources in three types of knowledge: technical (inadequate technical or procedural knowledge), personal (not knowing the wishes of the patient) or conceptual (difficulty applying abstract criteria to specific situations). Other researchers suggest that the experience of uncertainty is more than a cognitive phenomenon, as they have identified two stress-related reactions experienced by doctors faced with uncertainty: anxiety, due to the same uncertainty, and worry about poor results. These concepts are the result of the application of Lazarus’ classic model of stress, which is remarkable for its recognition of the cultural context in which the clinical uncertainty occurs (a medical culture that demands certainty), and emotional stress reactions experienced by physicians when technical, personal, or conceptual resources are unable to meet the demand for safety. With these two views, it is important to conduct a study to find a relationship between these factors and the appearance of uncertainty, besides physicians’ type of response to it.2
In this sense, uncertainty arises from the moment of attempting to define the functions carried out by the medical geneticist. At least in our environment, this function is dual, since it is responsible for carrying out the diagnostic process and also responsible for the communication process known as genetic counseling. Trying to define the extent of this concept is what has led to the presence of uncertainty, as for some authors genetic counseling should not be confined to the interaction with patients or families who have a genetic disease, considering medical aspects as well as psychological, sociological, economic and others, but it can also be extended to the entire previous process that led to a diagnosis of "certainty". Then, uncertainty can occur since there are different approaches on the scope of actions that can be included in genetic counseling. You could say that in some cases, depending on the clinical scenario, a diagnosis is the end point that is reached after the counseling sessions. Examples include individuals who undergo screening tests or pre-symptomatic diagnosis (for example familial breast cancer) and couples who ask for prenatal diagnosis, cases in which counselors must interact with them prior to testing, and consider all possible outcomes, in order to then make the decision whether or not to go ahead with procedures.
Whatever the approach to the moment when the professional practice of the geneticist can be called genetic counseling, this allows us, as in any other area of medicine, an opportunity to provide the necessary information in accordance with the condition in question. It is therefore important to remember the most recent definition proposed by the National Society of Genetic Counselors (NSGC), which stipulates that genetic counseling is the process of helping people to understand and adapt to the medical, psychological, and family implications of the genetic contribution to disease. This advice includes:
• The interpretation of family and medical history to assess the probability of occurrence or recurrence of disease.
• Education about inheritance, testing, management, prevention, resources, and research.
• Counseling to promote informed choices and adaptation to the risk or condition.3
Then, uncertainty may occur in the testing phase of a patient due to the peculiarities of the process and the choice of appropriate diagnostic tests. Also, the moment may arrive upon the analysis of the information available to realize that it was not feasible to establish a diagnosis.
Most individuals who come for genetic counseling are referred by a specialist doctor and some others by express request of the patient or responsible family member. This person may feel worried by thinking about making a balanced decision. Many expect a completely reassuring answer, but usually they are realistic enough to understand that they must also be prepared for an unwanted outcome. What they hope for is decisive information that is consistent with good or bad news, which would be in line with one of the goals of genetic counseling (providing information for decision-making). However, very rarely is it possible to give definitive answers, so the information provided may be potentially threatening.4
We can consider that uncertainty is a feature of the process of genetic counseling, as it accompanies the doctor while educating about the risk of recurrence, the risk of disease, its natural history and clinical course. There will be some outcomes that may be uncertain because the course of the disease is variable and the probability of occurrence of any of the possible outcomes is known. On the other hand, there will be others in which the probability of occurrence of each possible outcome is known, but the certainty that one will happen, is not. However, in both situations it is possible that there is some uncertainty inherent in the probabilistic nature of predicting the occurrence of an outcome, because an unprecedented event can alter the (highly likely) expected results forecast or reported.
Therefore, in the area of medical genetics, uncertainty may be present in multiple times and forms: it may be related to prenatal circumstances or to events throughout life. It can have many dimensions, biological, psychological, social, economic and moral, regardless of the type of disease, the clinical point of care, or the type of diagnostic tests performed.
From the point of view of the genesis of uncertainty, there are reports that speak of the problem involved in the inability to draw a conclusion about the origin of disorders present in a patient with a condition that has even been studied by a number of specialists and that has had various tests conducted. This is a sufficient factor of uncertainty in both the patient or his family and the physician trying to reach a conclusion.
In cases in which recent genetic research studies are performed, there may be a lack of certainty about the results due to the existence of incidental findings or reports of changes whose clinical significance is uncertain. The discoveries and applications of genomic research have had a surprising development in a period of time which can be considered short. Such is the case of DNA sequencing technologies. In the area of medical genetics, these advances have been used in different groups of patients, those with multiple birth defects with or without developmental disorders, as well as those with complex diseases, or for the study of various types of cancers. Uncertainty may be present in this area from prenatal care to care given over the lifetime of the individual, because in general, the idea that people may have about genetic information is it works like a map of our biology and that its consequences are immutable and inevitable, so that when performing a genetic test, whether predictive or diagnostic, its results are immutable. This idea is hard to change in the perception that the patient has at the time when they are given genetic counseling.
In the field of prenatal diagnosis, if the geneticist doctor tells the couple that the results are negative for a genetic disease, that may reassure the couple, but in the case of identifying an abnormality, they face a substantive decision. This is difficult especially when the result is ambiguous because of the wide range of expression of certain genetic disorders, their low frequency, or a result of unknown significance. In addition, prenatal diagnosis of an anomaly almost always raises questions about what a child with a disability can mean for prospective parents, the family, and the environment in which it develops, what could be the needs and medical prospects of the child, whether the family will be able to provide adequate support, and how they might respond to the decision to continue the pregnancy or interrupt it.
Genetic testing for monogenic disorders poses a series of similar questions. While in some cases the disorders discovered in a gene indicate a clear prognosis, most genetic diseases are caused by a combination of genetic, environmental, and behavioral factors. Testing for these diseases varies in its predictive value based on what is known about the frequency of mutations in the population, the probability that those carrying the mutation have symptoms, the severity, and the age of onset, in addition the range of variation in expression. Genetic tests also carry social risks of discrimination in employment or insurance, concerns about the health of family member, and possible social or psychological burdens, all of which can contribute to uncertainty in decision making.
These applications of technology have been progressively linked with the function that the medical geneticist performs in his role as head of the diagnostic process. It is assumed to be a tool that allows us to address cases of patients waiting for the conclusion on a diagnosis. However, as is well known, the clinical significance of much of this genomic information is not accurate or does not have the degree of certainty needed to meet the objective of completing the definitive diagnosis. Thus, the characteristics of medical practice in human genetics should take into account the existence of uncertainty, so that to reduce its effect requires effective communication, particularly in relation to this incomplete knowledge that science is still investigating. This is vital if one wants to offer a service that is useful, informative, and appropriate for patients and their families.5,6
Uncertainty arises not only in the doctor but also in those visiting a genetics department, either as patients, families, or individuals who have a relationship with a genetic event. Being sick can cause a series of questions and reactions in the individual; having a risk of being sick or transmitting a disease can worry the individual in relation to the decisions they have taken or those that they could take and that could be a burden or responsibility to others.
It is difficult to give meaning to being sick or to having a risk related to health or to the transmission of a hereditary disorder. Performing pre-symptomatic testing involves uncertainty because "being at risk" implies the possibility that more questions arise than there are answers available.
The information provided during genetic counseling can be considered a potential stressor to be taken into account for the psychological impact it can have on individuals who receive it. The calculation of probabilities of disease or transmission to offspring is one of the central themes of the genetic counseling process. Among the questions that may arise during the process will surely be those related to the severity of the symptoms of genetic disorder in question, its degree of interference in the life and the future goals of the individual, which cannot be specified in most cases. So even when genetic tests offer opportunities for information regarding the calculation of risks previously discussed, these tests are not decisive to evaluate everything implied in a genetic disease. The same can happen in the question of the severity of the disorder in the offspring, because that cannot be predicted given the wide range of possibilities in terms of impact. In addition to severity, the following aspects have shown a significant negative impact: unpredictability, the possibility of control, novelty, imminence, and duration/volatility.
Unpredictability can refer to a type of event (and can be taken as ambiguity as well), or concern the probability that a disease will occur in time. Overall, unpredictability adds to the strain experienced.
The possibility of control is related to predictability, but is not synonymous. A low predictability hampers the possibility of control, whereas for stressors with high predictability, control may or may not be possible. In the context of genetic counseling, the lack of possibility of control can take the form of a relative lack of treatment options or preventive measures.
The novelty of the information refers to information that is beyond the scope of the expectations of a person, since it may give results completely unexpected by the individual. This is related to the initial perception of risk.4,7
Imminence is raised in the context of the decision-making and it refers to the moment of receiving genetic counseling. This is the case of diseases that start in the adult or when reaching the average age of onset of symptoms in the family.
Duration or volatility refers to the temporary nature of the diseases. In the case of genetic disorders, this feature does not apply because beyond just lasting, some can become more severe over time.
How to interpret risks creates uncertainty and various related behaviors may occur. Knowing that there is a risk as something measurable does not necessarily free the individual from that feeling of uncertainty. The interpretation of risk in the person consulted is influenced by multiple causes: environmental factors, physical resemblance to the person concerned, aspects of family history, social issues, personal experiences on an emotional level, and even human nature itself. These are all considered evolutionary in origin and based in adaptation through trial and error. Risk is generally interpreted as a potential loss, and the risk becomes significant only when the person interprets it.
In other areas of medicine this risk feels "real," because there is something that sustains it, like the signs and symptoms of the disease or abnormal results from laboratory studies. However, in the area of genetics, there can be no concrete evidence that the disease can affect future offspring, but this probability is represented by a number.
The way risks are presented to the patient is also an uncertainty factor. It is also related to the personality type of the individual, which makes for varied reactions to the information received. These forms of presenting risks to the patient are: heuristics (acting based on previous experiences), representativeness, availability, and anchoring.8
In some technologically less-developed regions of the world, uncertainty is omnipresent and to some extent can be accepted as inevitable. But in the West, much of social, medical, technological, and institutional innovation is designed to minimize the risk of disease. With Western confidence in the will, reason, biomedical research, and the tendency to focus on the future, the importance of controlling risk is to some like a moral imperative. This has made it so that insurance for virtually all contingencies has become a standard for the rich. But the eagerness for health that has become a fashion affects care, because the doctor is more vulnerable to the growing uncertainty from people’s demand for health.
In countries where the amounts of public and private funds are dedicated to market genetic tests for combating diseases, injuries, accidents, suffering, and aging, these are perceived by the population as an opportunity to responsibly manage risks. Indeed, it may well be so when evidence rules out certain risks with a certain degree of confidence. However, any risk assessment is highly stressful because of its ambiguity. It is therefore of particular interest to talk about the individual's response to how they interpret the figures of risks and probabilities, in an effort to help reduce stress or orient them towards decision-making.
It is possible to take a number of different approaches for the importance and implications of managing uncertainty.
Among the philosophical approaches is the existentialist, in which most of the time humans manage to bridge the gap between the need for order and consistency, on the one hand, and the inevitable reality of limited lonely existence in a chaotic and unpredictable world on the other. Therefore, uncertainty arises when a patient produces a feeling of helplessness in the doctor (a product of the existential reality of life).
If a psychological approach is adopted, we could say that uncertainty may arise due to a cognitive process (difficulty in perception and interpretation of the facts by the doctor), or a personality clash, or as an indivisible part of doctor-patient interaction and communication. By contrast, sociological literature challenges the assumption that humans are responsible for rational decisions, instead of describing the "social process model" for decision-making. Rational thinking is an important part of the process, but it is not the whole story. Instead of balancing the pros and cons of any decision objectively and logically, the model emphasizes social processes in the wider context from which decisions are made: risk is managed and uncertainty is handled. Decision-making is seen as a complex and iterative social process influenced by personal experiences and opinions and the advice of others (whose validity is based on the level of trust between the giver and the receiver of the information). Therefore, rationality sometimes plays a small part in a process of "building knowledge" that underlies the way people cope with uncertainty, as they make clinical decisions. The decision-making process as part of the management of uncertainty is something that has been studied widely.9
The management of uncertainty is complex. Several studies and reviews have identified commonly used strategies to manage uncertainty that are unproven. These include, but are not limited to:
• The practice of good communication skills.
• The articulation of the background information that the patient needs to interpret their symptoms.
• Being thorough and open with the diagnostic process.
• Negotiating a plan with the patient.
• Allowing the development of clinical findings.
• Forming a contingency plan.
In fact, respect, empathy, and compassion are essential in any doctor-patient relationship, which should facilitate acquisition of the knowledge needed to address both the medical evaluation and the psychosocial aspects necessary.10
Finally, current educational trends of competency-based curricula have their roots in constructivism, and, taking this direction of thought as the basis for work in the medical field, it is important to consider not only the influence of physiological and biochemical issues of morphological descriptions and measurements, it is also essential to know the perceptions and understanding of the person concerned and the family and their physical and social environment. This way the doctor will have a solid foundation to improve communication and help their patients reduce their anxiety during healthcare, which can improve their adaptation to uncertainty itself.
Conflict of interest statement: The authors have completed and submitted the form translated into Spanish for the declaration of potential conflicts of interest of the International Committee of Medical Journal Editors, and none were reported in relation to this article.