The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results, and the psychological impact that a genetic disease has on a family.
The concepts presented are based on a historical synthesis of the literature on GC from the 1930s until today, and the articles cited represent the most important research published which today provides the foundation for the theory and practice of GC.
SUMMARY OF THE FINDINGS:
The modern definition of GC is a process of communication that deals with the human problems related to the occurrence of a genetic disease in a family. It is of fundamental importance that health professionals are aware of the psychological aspects triggered by genetic diseases and how these can be managed. In the field of human and medical genetics, we are still living in a phase in which technical and scientific aspects predominate, with little emphasis on the study of emotional reactions and people’s processes of adaptation to these diseases, which leads to clients having a low level of understanding of the events that have taken place, with negative consequences for family life and society.
The review concludes by discussing the need to refer families with genetic diseases for GC and the need for professionals working in this area to invest more in humanizing care and developing non–directive psychological GC techniques.
Genetic counseling, in medicine, the process of communication in which a specially trained professional meets with an individual, couple, or family who is affected by a genetic disorder or who is at risk of passing on an inherited disorder.
Some of the first genetic counseling clinics were established in the 1940s in the United States and the United Kingdom. Many of the first genetic counselors identified with eugenics policies, which were aimed at controlling population growth among specific ethnic or racial groups. The clinical practice of genetic counseling, however, soon changed considerably in that it became largely non-directive. The counselor provided information, but the decision of whether or not to act on that information was left to the individual or the family. Genetic counseling services were made available in most developed countries.
The focus of modern genetic counseling is to provide people with balanced information and nondirective support so that they can make informed decisions regarding issues related to genetics. In the late 20th century, advances in genetic knowledge and improvements in diagnostic techniques led to an expansion in the profession. Professional courses in genetic counseling are taught worldwide.
Areas Of Focus In Genetic Counseling
Genetic testing often is performed in infants and adults who are suspected to be at risk of genetic disease. It is also a routine part of pregnancy for many women. Genetic counseling often is an integral part of genetic testing in those circumstances.
General ethical considerations in genetic counseling
This section is based on what is contained in the document produced by the WHO Human Genetics Programme, published in 1998, and involving 14 countries.
The primary objective of this document was to protect people and families with genetic diseases, to assist or provide guidance to governments and health services in member states to ensure that genetic information and genetics services are made more widely accessible in medical practice within acceptable ethical principles. The secondary objective is to allay fears and reassure the public that adequate controls are in existence to prevent abuses of genetic information and to avoid unacceptable practices, recognizing that advances in genetics have the potential to significantly improve the health of people when appropriately applied at the individual, family and community levels. This information must be integrated in an ethical manner and with respect for religious and cultural diversity.
In this document the WHO declares its preference for non–directive GC, which should be based on two basic elements: a) the provision of precise, complete, and unbiased information to allow individuals to make their own decisions; b) establishment of an empathetic relationship with a high degree of understanding, so that people are helped to work towards taking their own decisions.
Below are listed the ethical principles applicable to GC:14
- Respect for people and families, including the whole truth, respect for people’s self-determination, and precise and unbiased information (autonomy).
- Preservation of family integrity (autonomy, non–maleficence).
- Complete disclosure to individuals and families of all information relevant to health (autonomy, non–maleficence).
- Protection of the confidentiality of individuals and families against unjustified intrusions on the part of employers, insurance companies, and schools (non–maleficence).
- Telling individuals
- they have an ethical obligation to inform their relatives that they may be at genetic risk (non–maleficence).
- that they must reveal their carrier status to spouses/partners if the couple wishes to have children and about the possibilities that their relationship may be damaged by these revelations (non–maleficence).
- Telling people they have a moral obligation to reveal their genetic status if it may affect public safety (non–maleficence).
- Presentation of information in as unbiased a manner as possible (autonomy).
- Use of non–directive techniques, except concerning treatment questions (autonomy, beneficence).
- Involving children and adolescents as much as possible in the decisions that affect them (autonomy).
- The obligation of health services to follow–up carriers/families if appropriate and desired (autonomy, beneficence, and non–maleficence).
The current conception of genetic counseling
This concept was developed at a seminar held by the National Genetics Foundation, Inc. and published by Fraser in 1974.15 It was then approved by the American Society of Human Genetics – ASHG in 197516 and became the classical conception of GC: a communication process, which deals with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.
This process involves an attempt by one or more appropriately trained persons to help the individual or family:
– comprehend the medical facts, including the diagnosis, the probable course of the disorder (prognosis), and the available management (treatment);
– appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives;
– understand the options for dealing with the risk of recurrence, with relation to the family’s reproductive life;
– choose the actions which seem appropriate to them given their risk and their family goals and act following that decision;
– make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder.16
This definition emphasizes the nature of GC as being much more than a process of medical diagnosis of a clinical condition and the definition of genetic risk, and that genetic counselor should work as facilitators of a complex process of understanding what is happening to the family and act to ensure that counselees go through a process of adjustment to the new situation faced by the family: having one or more members affected by a genetic disease.
Genetic diseases cause anguish or torment: miscarriages, stillbirths, and neonatal mortality, very often recurrent; congenital defects of a physical (malformations), mental (mental deficiency) or sensory nature (congenital deafness and blindness), psychoses, familial cancers or diseases of specific organs or systems that generally limit quality or length of life. Therefore, a genetic disease is everything that nobody wants to discover in themselves or their family and demands a great deal of dedication from professionals, who generally should be working in multidisciplinary and interdisciplinary teams to be able to correctly manage the entire situation generated by these diseases within families and society.
Clinical situations in children where genetic counseling is necessary
Without a doubt, pediatricians are the physicians who will most often come into contact with patients and families in need of genetic assessment during their professional lives and so they must always be alert to this need, particularly when presented with:
– Cases of stillbirth and neonatal mortality, which should always have their etiology defined so that we can determine whether there is a probability of recurrence in the same family. Autopsies should be requested and pediatricians should work with families to help them to understand the need for this. The autopsy should be carried out by a team trained to identify the true etiology and prepared to diagnose genetic diseases, whether dysmorphology or metabolic.
- Children with
- congenital defects, particularly when the child presents with multiple congenital anomalies.
- severely ill and where there is suspicion of genetic metabolic diseases.
- genital ambiguity or abnormal sexual development.
- neuropsychomotor delay or mental deficiency of undefined cause or obviously genetic etiology.
- deficient or excessive growth of undefined cause or with suspected genetic disease.
- specific genetic diseases of an organic system (for example sickle–cell anemia, muscular dystrophies, etc.).
Phases of the genetic counseling process
Genetic counseling is an integrated process that should be continued. However, there may be times at which it can be divided into phases to enable better understanding. Our description will go into greater detail about the human aspects of the process than into the technical aspects of diagnosis or of calculating risks of recurrence.
To better develop the subject, we will concentrate on the situation that is directly related to pediatric care, i.e., the management of couples who have had children born with severe genetic problems and which is, without doubt, the most common situation observed during consultations at genetic clinics.
The first phase: definition and/or confirmation of diagnosis
In the form of a clinical activity within the healthcare sector of Brazil, genetics is approaching its 40th birthday and has therefore spread to the country’s major cities and it is now more and more common for patients to be referred to consult a genetic specialist or take a genetic test. However, this type of referral or even spontaneous demand triggers feelings of insecurity and fear. The classical genetic consultation is with the parents, who are clients or counselees because of problems with their children. The genetic counselors should initially evaluate the parents’ understanding of the reasons for the referral and their psychological condition, to truly develop empathy, i.e., so that the council can understand the emotions surrounding these people about a possible deviation from normality.
Before anything else, the counselor must be adequately trained and know that:
- Genetic diseases are different from non–genetic diseases. They are innate (part of the individual, of the self), they will never go away and, the majority, have complex prognoses.
- The occurrence of these diseases in a family leads, when the parents become aware of it, to a process of acute suffering or mourning,17which can pass through several phases (shock, denial, sadness and anger, equilibrium and reorganization), which intermingle with each other and where the cycle of coping depends on many factors and much professional help and how professionals deal with their clients. The council must know how to identify the different discourses and their meanings and how to interact with these people.
It is important to clarify, as far as possible, all of the initial doubts that are manifest and explain all of the procedures which will be performed, aiming to offer as much security as possible to the counselees.
Of course, as a consultation progresses all of the clinical procedures used in medicine will come into play since clinical genetics has a very specific clinical methodology and workups, such as morphological clinical exam with detailed anthropometric measurements, genealogy studies, and specific laboratory tests ( karyotype, DNA tests, specific biochemical tests), which sometimes must also be carried out on parents or other family members and the reasons for which must always be very well explained.
In the medical or preventative model, GC is based on accurate diagnosis, which is the basis for the continuation of the process, however, with current levels of knowledge and technology, clinical and etiologic diagnoses could be not defined immediately and depending on the course the condition takes, which generates further feelings of fear and anguish which must be managed by the counselor.
The second phase: calculating genetic risk
This phase is more theoretical, away from contact with the family, and is the process by which professionals establish, based on the etiologic diagnosis, the causes of the disease, for example, environmental, genetic, multifactorial, or unknown. If the cause is genetic, they will determine whether chromosomal or genic and, for each of these, their subtypes. Based on this etiologic diagnosis, they explain the occurrence of that particularly affected child within the family, the reason for the disease, the mechanism that generated it, and what the risks are of the disease recurring within the family. We will not go into details about the processes of calculating these risks, since this in itself is an extensive subject that must be dealt with separately.
The third phase: communication
Once the clinical and etiologic diagnoses have been defined and/or confirmed and genetic risk has been calculated, GC enters the phase of interacting with the family to help it to understand what has happened, i.e., communicating the medical facts (diagnosis, treatment, prognosis, cause of the disease) relating to the child or patient and the genetic risks, i.e., what is the probability that another affected individual will be born to the same family.
When should GC be carried out? I think that genetics services should integrate themselves more and more with the institutions and teams that care for the disabled and that GC should be performed by the entire team and in a continuous manner as the case progresses and the facts indicate it is needed.
What should be said? It is part of ethical principles to tell the entire truth, however, the team should reflect about to whom and in what manner it should be told, since, as we have already explained, this information is always threatening to the ego and can trigger severe emotional reactions, which need to be well evaluated and managed.
Many problems can interfere with communication, such as educational, linguistic, and social barriers, feelings of guilt, sustained feelings of rage and rebelliousness against professionals, marital dysfunctions, etc.
And communicating the risks? The counselor should have already determined whether there is a prior conception of the risk and whether this conception is correct or not; concepts of high or low risk should not be used to explain the risk, but their exact values should be given, exploiting understanding of the probability involved in games of chance and gambling in the explanation; expounding both sides of the risk, i.e., the chance of health (a normal child being born) and the chance of disease. It is not sufficient to do only an explanation of the risks, but it is necessary to explore the counselees’ perception of the risk and the impact of that should be explored —the risk is always perceived in binary form: it may or may not happen, I can or cannot have more children. Never say, “you should not have more children “because this would be unethical.
The fourth phase: decision and action
The family will need to take many decisions from this point on, but these will occur throughout life in response to family dynamics, and so GC should be continuous. Decisions about how to care for the child/patient; about other genetic tests, couple’s reproductive life & relationships and maintenance of the family and the mental health of its members; reproductive decisions and contraceptive methods; about the use of prenatal or preimplantation diagnosis or about termination or not of pregnancies; etc.
During this phase, the counselor needs to help clients or counselees to:
- Be psychologically active, making them strive to arrive at their own decisions, accepting the risks of the consequences. Exercise the essence of non–directive GC.
- Provide couples with knowledge about the human decision–making processes: work with ambiguous feelings (demonstrate that they are normal and part of the decision–making method that human beings use, i.e., balancing pros and cons until a decision is taken, and that ambiguous feeling will stay with the person until they feel secure about the results of the decisions), interpersonal conflicts, the difficulties of the decision–making and its relationships with personality types (for example obsessive types who run away from the decision attempting to involve themselves with many other activities – hiding in work; and hysterical types who hide from decisions in their fantasies).9
The fifth phase: follow–up
Since we recommend that GC should be continuous and should be offered at educational institutions for people with special needs, professionals should follow up with families’ lives more effectively and not lose contact with them, which is what happens very often nowadays. This, indeed, is what has led to a situation we are observing today: a generation of affected children born during the 1970s and 1980s and seen at Brazilian genetic services are now adults, and many have mental disabilities and are having children without being offered any care, and many of these children are also affected. The information has been forgotten and the life of the family carries on without guidance.
Therefore, genetics services need to invest more in activities on a primary care level (and not just tertiary) creating conditions for more effective follow–up of the lives of families, at least those with the most significant risks of recurrence. Esmer et al.,18 evaluated follow–up at services in the United States and concluded that it is very difficult to maintain contact with these patients and that a new strategy should be planned to resolve this situation.
Other health professionals are also dedicating themselves to GC, such as nursing professionals and, in some countries, a new profession of a genetic counselor is being created. Much research into improving GC at the primary level has been described19 and, even at the tertiary level, this is a true necessity. A society dedicated to genetic nursing was recently founded in Brazil and we hope it will evolve as rapidly as possible and that we can create the profession of a genetic counselor.