Understanding Genetic Counseling
In 1975, the American Society of Human Genetics (ASHG) defined genetic counseling as: a communication process which deals with the human problems associated with the occurrence, or risk of an occurrence, of a genetic disorder in the family. Genetic counseling is sometimes performed by nurses or physicians, but in most cases, it is a process performed by an individual with very specific training in a specialized field; a genetic counselor.
According to the 1975 ASHG definition, the genetic counseling process involves helping the individual or family to:
- Comprehend the medical facts, including the diagnosis, probable course of the disorder and the available management/treatment
- Appreciate the way heredity contributes to the disorder and the risk of recurrence in specified relatives
- Understand the alternatives for dealing with the risk of occurrence
- Choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, to act in accordance with that decision, and
- Make the best possible adjustment to the disorder in an affected family member and/or the risk of recurrence of that disorder
What is a Genetic Counselor?
A genetic counselor is a health professional who has either a Master's Degree or a Ph.D. in genetics. Mostly everyone has heard of the word genetics and knows that it pertains to heredity. One definition of genetics is the biological study of heredity, transmission of genes, and variation in the gene pool.
A genetic counselor's job is to make sense out of hereditary patterns that "run" in some families and to educate about the genetic transmission of a given gene or disorder and the medical/genetic knowledge about a given disorder. The genetic counselor's special training results in strengths in clinical genetics, such as:
- Dysmorphology: the study of differences or abnormalities in the form and structure of a person (birth defects)
- Metabolic disorders
- Cancer genetics
- Prenatal diagnosis and counseling
- Teratology: the study of substances and toxicity's that can cause fetal malformations
- Neuromuscular disorders
- Hereditary multifactorial conditions (such as heart disease)
- Psychiatric genetics
- Other specialty areas
In addition, genetic counselors possess a strength in the art of providing counseling services to clients. In 1947, Dr. Sheldon Reed coined the term genetic counseling. He saw the counseling aspect of delivering genetic information as essential because he recognized the numerous psychosocial issues involved in making decisions about a pregnancy and reproduction. The feelings that a client can experience as a result of a genetic diagnosis or genetic information can include uncertainty, anxiety, fear, hostility, depression, confusion, guilt, despair, grief, embarrassment, and many other emotions. These feelings cannot be ignored by providing only a plethora of scientific information. Rather, the empathetic medical professional needs to confront what the client is experiencing and try to help the client to work through some feelings. Hence, the term genetic counseling. Genetic counselors are skilled in providing short-term psychotherapy, crisis intervention counseling, and they strive to remain value-neutral, so as not to inflict religious, social or any type of personal beliefs onto a client.
The goal of genetic counselors is to provide education and support to their clients in a non-directive manner, such that a client can make the best and most educated decision(s) for him or herself and his or her family. Non-directiveness is a counseling style that originated with Carl Rogers. Roger's Client-Centered counseling focuses on empathy and non-directiveness, thereby not influencing a client and communicating not what the therapist thinks a client should do or how a client should feel, but facilitating the counseling session such that the client can arrive at how he or she feels and how he or she should proceed with the issue at hand. Genetic counselors are taught to realize that every client may attach a different personal meaning to genetic information. One's social role, religion, ethnicity, gender, sexual preference, and socioeconomic status may all tie into a person's response to genetic information and the ways in which the individual copes, accepts, and adjusts to this information. Genetic counselors must possess the ability to practice multicultural counseling, and to know when it is best to refer a client to another genetic counselor who may be of more help to a given client.
Another important role of genetic counselors is to serve as patient advocates and refer patients and/or families to community or state support services. Sometimes when one is dealing with a new diagnosis for oneself, or for a child prenatally or antenatally, it is difficult to know where to begin. Genetic counselors can help to point individuals in need in the right direction by providing telephone numbers, web site addresses, and other information that may be of benefit.
Ethical Principles of Genetic Counseling
Sometimes there is a very fine line between doing what one thinks is best for a client or a family member of the client and doing what is ethically correct, as established in the Ethical Principles genetic counselors are to follow. These Principles were adopted to guide genetic counselors in their duties to their clients. Genetic counselors strive to follow these Principles so as to provide the highest level of respect and the highest level of genetic counseling services.
- Autonomy: the duty to maximize the individual's right to make his or her own decisions
- Beneficence: the duty to do good; the duty to confer benefits, and the duty to prevent and remove harm
- Justice: the duty to treat all fairly, distributing the risks and benefits equally, the duty to treat all identical cases the same
- Confidentiality: the duty to respect privacy of information
- Nonmaleficence: the duty to cause no harm
- Veracity: the duty to tell the truth
- Fidelity: the duty to keep contracts and promises, the duty not to neglect patients once accepting them into care
Who Sees a Genetic Counselor and What Happens in a Session?
In genetic counseling, the name given to the client is the proband. In reality, however, the patient in genetic counseling is the family.
The proband, or the individual who seeks out genetic counseling, may be a couple who is pregnant or who is thinking of becoming pregnant, he/she can be a child or adult affected with a genetic disease or at risk of having a genetic disease, or he/she can be an elderly individual who is seeking genetic information about a condition that he/she could have passed on to younger generations. The patients genetic counselors see are very diverse and clients come to see genetic counselors for various reasons. For example, it is well known that some genetic conditions, such as cystic fibrosis or sickle cell anemia, are more common in certain ethnic groups. Thus, and person may seek genetic counseling because of his/her ethnic background in order to find out the risk of carrying a specific gene.
There are several steps to a genetic counseling session. Often, prior to the session, a new client may be assigned a homework task: to gather the medical and pregnancy history of his/her family members. Meanwhile, the genetic counselor may be doing some homework as well, to find out the most current and helpful information about a given genetic condition. Other steps may include:
- Determining Purpose: Why the client or family is seeing a genetic counselor and clarifying what information they wish to obtain from the genetic counseling meeting.
- Pedigree Development: Drawing a family tree, called a pedigree, in order to find out a plethora of vital information about a family. A pedigree can help to make a diagnosis of a genetic disease, it can help the counselor to determine a given person's risk of developing a genetic disease or risk of having a child with a genetic disease. It can also clarify which individuals in a family may want the option of genetic carrier testing. Sometimes a pedigree can reveal information that may not be wanted by the client, such as non-paternity.
- Family History: In taking the family history, the counselor will ask many questions about the client, his/her parents and/or children, aunts, uncles, first and second cousins, grandparents, and often even about great aunts and uncles. Dates of birth, dates and causes of death, and medical conditions will be sought out. In addition, it may be necessary to request medical records to confirm a diagnosis on a given individual in the family or to determine what genetic test results were.
- Genetic Testing: After construction of the pedigree, medical tests or genetic tests may be offered to some individuals in the family to determine if an individual has or is at risk of having a genetic condition, or if a person carries one gene that could be passed on to future generations and cause a genetic disease.
- Education: If the proband or a family member has or is at risk of having a genetic condition, the medical facts and heredity component of that condition will be explained.
- Support: Often the last and potentially ongoing step involves helping the patient or family cope with the emotional, psychological, and medical consequences of carrying a gene for a specific condition or of making a diagnosis in the family. The counselor is there to support the client and/or family, which includes providing education and emotional services.
More Information
To find out more information about genetic counseling and counselors in your area, please visit the National Society of Genetic Counseling Web Site.