Genetic Counseling

Genetic counseling – overview

     Genetic counseling is a medical service that aims to help individuals and families who have – or are at risk for – genetic diseases. It is a combination of genetic medicine, patient education, and psychological counseling.

     Over the years, genetic counseling has been defined and re-defined by scholars and professionals in the field. In 2007 the National Society of Genetic Counselors adopted a new definition of genetic counseling:  

     Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:
•    Interpretations of family and medical histories to assess the chance of disease occurrence or recurrence.
•    Education about inheritance, testing, management, prevention, resources and research.
•    Counseling to promote informed choices and adaptation to the risk or condition[1].

Who are genetic counselors?

     Genetic counselors are healthcare providers who are specially trained to provide genetic counseling services to individuals and families that have or are at risk for a genetic disease. Genetic counseling as a profession is relatively new; the first genetic counselors graduated from Sarah Lawrence College in 1971. There are approximately 3000 genetic counselors in North America. Genetic counselors have specialized master’s degrees that include education in medical genetics, patient education, and psychological counseling. They are certified by the American Board of Genetic Counselors (www.abgc.net). In addition to providing clinical genetic counseling, genetic counselors also work in research, teaching, genetic testing laboratories, public health, policy, and industry.

Who else provides genetic counseling services?

     Genetic counseling is not only provided by genetic counselors. It is also provided by:
•    Geneticists: these are physicians who specialize in diagnosing and managing genetic diseases. Medical genetics is a specialty recognized by the American Board of Medical Subspecialties (http://www.abms.org/) and the practitioners of the specialty are certified by the American Board of Medical Genetics (www.abmg.org).
•    Other physicians, especially those who treat genetics conditions within their specialty, such as a neurologist who specializes in hereditary muscular dystrophies.
•    Genetic nurses. The International Society of Nursing Genetics (www.isong.org) represents nurses specializing in human genetics and genomics worldwide.

History

    
     The first half of the twentieth century saw an increasing interest in determining how the inheritance of genetic factors might influence diseases. This interest led to two important developments. The first was the growth of medical genetics, the branch of medicine concerned with the diagnosis, care and management of patients and their families with hereditary disease. The second was the Eugenics movement, a social movement dedicated to reducing the burden of disease and other social ills in the population by controlling and restricting reproduction of individuals considered to be carrying socially and medically undesirable genetic traits. Of course, what was an undesirable trait was “in the eye of the beholder” and was frequently tainted with racism and fear of the immigrants that flowed into the United States in the years before the First World War. Eugenics was very popular in the United States in the first few decades of the twentieth century, and led to unethical social policies such as state-sponsored involuntary sterilization of individuals deemed unfit to pass their genes onto their children. Although some prominent scientists and physicians were part of the Eugenics movement, many professional geneticists did not approve of it because it was inhumane and was based on very faulty science. The Eugenics movement was even more thoroughly discredited when the Nazis adopted it as a rationale for their program of mass murder.

    Genetic counseling began at a time when the Eugenics movement was fading into discredited obscurity. Sheldon Reed, a Ph.D. geneticist and not a physician, took over direction of a clinic at the University of Minnesota that had been founded nine years earlier to provide patients and their families with information on heritable conditions. He quickly realized that “…most families had little interest in eugenics, but instead were concerned about the effects of genetic disease on their lives, their children, and their reproductive plans”[2]. In his 1955 monograph, Counseling in Medical Genetics[3], he coined the term “genetic counseling” to describe how a counselor works with individual patients and their families to help them deal with the medical and psychological issues that arise as a result of heritable disease, or the risk for heritable disease in them and their families.
  

     Another important historical factor in shaping genetic counseling was the challenge posed by the development of prenatal diagnosis of chromosome abnormalities. In the early 1960s, researchers found that the risk of a certain common form of birth defect, one caused by having an abnormal number of chromosomes, increased with the age of the mother. The most common birth defect of this type is Down syndrome, caused by an extra chromosome #21 (trisomy 21). At the same time, Steele and Breg showed that cells of fetal origin in the amniotic fluid surrounding a fetus could be grown on plates in the laboratory and their chromosomes counted. The fluid was obtained by inserting a needle into the pregnant uterus at approximately 15 weeks of pregnancy and withdrawing a small amount of the fluid, a technique known as amniocentesis. This technique allowed the prenatal diagnosis of trisomy 21 and other genetic conditions due to abnormal chromosome number. Suddenly, a large number of women, those pregnant in their thirties and older, who previously had no particular cause for concern for the pregnancies they were carrying, needed to decide whether to avail themselves of a procedure to diagnose Down syndrome, a serious birth defect that could not be cured but could be prevented through elective pregnancy termination. Skilled counselors in much greater numbers were needed to help pregnant women and their families understand the risks and benefits of the procedure, learn about Down syndrome, make an intensely personal decision and, perhaps, help them deal with the aftermath should abnormal fetal chromosomes be found.

    Thus, many of the core attitudes and beliefs of genetic counseling today can be traced to making sure the field was free of eugenic motivation and was focused instead on a good faith effort to provide information and support to individual patients struggling with the intensely personal issues surrounding reproduction. As a result, very early in the growth of the profession, genetic counseling made a strong commitment to the principle of respect for individual decision-making. This approach to counseling, termed “non-directive” counseling (LINK TO NON-DIRECTIVE SECTION BELOW), has proven difficult to maintain in practice but remains, nonetheless, an ideal that has permeated the field of genetic counseling.

        The first graduate program dedicated to Genetic Counseling was founded at Sarah Lawrence College in 1969. Now, 40 years later, the scope of medical genetics has grown enormously to include prenatal diagnosis of many birth defects, the care of children with birth defects and biochemical disorders, and the diagnosis and management of adults with hereditary disorders of every system of the body, including hereditary cancer syndromes. The scope and power of genetic testing has expanded greatly, providing patients not only with a confusing array of options for diagnosing existing medical conditions, but also with the means to assess whether there is an increased risk for serious illness in themselves and their family members. Genetic counseling as a profession has expanded as the need for genetic counseling services has grown, but still faces a number of challenges, including a shortage of qualified counselors to provide needed services and the unwillingness of medical insurers to provide adequate compensation.

What happens in a genetic counseling session

      Genetic counseling sessions will not all be the same; they will vary with the patient and family’s needs. Describing what happens in a genetic counseling session can provide a more concrete picture of what genetic counseling is. (See below for a discussion of the particularities of genetic counseling in different subspecialties.)

Before the session:

     Prior to the genetic counseling session the genetics clinic will often want to gather information to help them with their evaluation. This could include medical records on the patient or their family members, the patient’s medical history, and their family history. These all serve as clues to help the genetics professionals make the right diagnosis or the right assessment of the likelihood of the patient developing a genetic disease.

During the session:

I.    Contracting:  At the start of the genetic counseling session the genetic counselor will often ask the client about their questions or concerns to make sure that the genetic counseling session meets the family’s needs. The client and genetic counselor will agree upon what needs to be discussed.

II.    Medical history:  The genetic counselor will review the client’s relevant medical history. Often the counselor asks targeted questions to check for signs of a genetic condition.

III.    Family history:  One aspect of genetic counseling that is distinct from other medical evaluations is the detailed family history. The genetic counselor will ask questions about family members’ health going back three generations. The genetic counselor will diagram the family history in a pedigree (Figure 1) and use it in risk assessment and diagnosis. 

Figure 1: Pedigree of an autosomal dominant condition. Males are represented by squares, females by circles. The shaded individuals have the genetic condition.

IV.    Physical exam:  Genetic counseling sometimes occurs as part of broader genetics evaluation with a physician and a genetic counselor.  A physical exam is a particularly important part of the evaluation when the goal is to determine if the patient has a genetic syndrome, which is a genetic condition with multiple unique physical features and health problems. The physician, typically a geneticist, will do a specialized physical exam to look for features of a genetic syndrome.  This evaluation helps determine the right diagnosis, which is essential for accurate genetic counseling about prognosis, appropriate genetic testing  and risk assessment.

V.    Risk Assessment:  Many genetic counseling sessions focus on assessing the likelihood that a person will develop a disease. It may be the chance that the client will have a child with a genetic condition, the probability that an adult will develop a disease that other members of the family have, or the chance that an individual with a given genetic mutation will develop a disease associated with that mutation.   
     Genetics professionals use a variety of methods to assess risks. When there is a known genetic condition in the family, this assessment is based on the mode of inheritance and basic genetic principles that describe how chromosomes are allotted during egg and sperm formation.
Often risks cannot be deduced from genetic principles because there is not enough information or the disease is caused by multiple factors, both genetic and environmental. In these cases, genetic counselors must rely on studies of other families with the same disease to estimate risk.  For example, studies have shown that women who have a mother or sister who has had breast cancer are twice as likely to develop breast cancer. These empiric risks are not as precise as risks based on basic genetic principles, but they can be helpful in assessing patient risk. Because they are averages that apply to groups of observed patients, they may not reflect the true risk of any one individual patient.

VI.    Discussion of genetic testing: The genetic counselor will discuss genetic testing options with the client when such testing is available and relevant. They will discuss what information the genetic test can and can’t provide, what the results would mean for the client and his or her family, and the risks and benefits of having testing. Genetic testing can help determine the right diagnosis, identify which members of a family inherited a genetic condition, and help with risk assessment. See below for a more detailed discussion of genetic testing.

VII.    Education:  Many individuals who are facing a genetic disease have questions about their diagnosis and what it means for them and their family members. Answering these questions is a key part of genetic counseling. Education topics may include inheritance, the natural course of the disease, treatment, and prognosis. Such information is often provided jointly by the physician and the counselor.

VIII.    Exploration of the client’s emotional responses, values, and thinking processes:  The genetic counselor may investigate a variety of psychosocial topics relevant to the client’s condition or risk. The topics discussed will depend on the client, his or her concerns, and the medical context. For example, when a couple is considering having genetic testing during pregnancy, the genetic counselor may explore their goals for their children, their perceptions of the genetic condition in question and how it relates to their goals, their previous experiences with disabilities, their feelings about abortion, and the level of agreement they have between them about these issues. Such exploration of personal concerns and emotional responses informs how the counselor will help the couple decide whether or not to have genetic testing. Often this exploration alone can help improve the client’s psychological wellbeing. 

IX.    Facilitating decision making:  The goal of many genetic counseling sessions is to help the client make a decision about whether or not to have genetic testing. This is particularly true when the genetic test is in a pregnancy or will provide predictive information about whether or not a currently healthy person will develop a disease in the future. Unlike many medical procedures, these tests are optional. Many of the elements of the genetic counseling session already discussed are key parts of facilitating decision making, particularly risk assessment, education, and exploration of the family’s values, emotional responses, and goals. 

X.    Facilitating adaptation to risk and disease:  Adaptation is the psychological process of adjusting to and learning to cope with a change in one’s circumstances. Any disease, genetic or not, can come with significant anxiety, fear, and grief. Genetic disease often carries additional emotional burdens, such as guilt about passing a genetic condition on to children and difficulty dealing with the uncertainty inherent in being at risk. Genetic counselors are well positioned to help families with these issues because of their understanding of the details of genetic disease and their training in psychological counseling skills and theories. The genetic counselor may help the family foresee the medical and emotional challenges that lie ahead. This is often referred to as anticipatory guidance.

After the session:

I.    The summary letter: After the session, the genetic counselor will write a letter summarizing the evaluation and information on the diagnosis, risk, and inheritance. This letter is sent to the family’s physicians, which is important because many genetic diseases are rare and thus doctors are often not familiar with them. The genetic counselor will sometimes send the family a letter as well. This letter can be shared with other family members so they can learn about the condition in the family and what testing or treatment they may need. 

II.    Follow-up genetic counseling sessions: Often more than one genetic counseling session is needed. For example, when genetic testing is ordered, a follow-up genetic counseling session will be scheduled to discuss the test results. 

III.    Referrals:  The genetics team may refer the family to other healthcare providers, such as specialists who can care for different aspects of their genetic condition. If the genetic counselor assesses that the family needs further help in coping with their condition she may refer them to patient advocacy and support groups specific to their condition, a psychologist, or a social worker.

Genetic Testing

   Genetic testing is clinical laboratory testing performed for the purpose of identifying alterations in the genetic material that cause or predispose to disease. In most situations, genetic testing involves direct examination of the genetic material to find the mutation associated with disease. In a few, well-defined situations the genetic material itself is not tested but, instead, blood or urine is examined for abnormal substances that appear because of a mutation in a particular gene. The best known example, phenylketonuria (PKU), is caused by mutations in the gene that specifies an enzyme, phenylalanine hydroxylase (PAH), required for normal handling of the amino acid phenylalanine. In a newborn infant who lacks PAH, toxic levels of phenylalanine build up and cause severe mental retardation unless the infant is given a special diet highly restricted in phenylalanine. The diagnosis of PKU is usually made from an examination of the blood and urine and rarely is the gene for PAH actually examined.

How is it done?

      The methods used for genetic testing vary depending on the specific disorder and the types of mutations responsible. In some diseases, the alteration in the genetic material is in the number or arrangement of the chromosomes. Chromosomes are the small structures inside our cells in which all our genetic material is packaged. To examine the chromosomes, the most common method used today relies on having living cells that can be grown in the laboratory so their chromosomes can be examined under the microscope. In other situations, all that is needed is DNA, the genetic material itself, which can be obtained from a blood sample, a cheek swab, or from fetal cells obtained by amniocentesis or chorionic villus sampling (another prenatal testing technique).
In certain disorders caused by having extra genetic material, the usual genetic test is to look directly at the chromosomes in a sample of living cells. This is the type of test used to check for Down syndrome, which is caused by an extra chromosome #21.  In other disorders, such as Duchenne muscular dystrophy caused by loss of a muscle protein called dystrophin, the test looks for the most common mutations, which are deletions that remove a substantial portion of the gene that specifies how to make dystrophin. Such a change always causes disease. In still other cases, the mutation is a change in a single base in the DNA sequence that is so subtle that it can only be detected by determining the exact sequence of the DNA bases within the gene.

    A change in a single DNA base can be very destructive of gene function. For example, a mutation that inserts a premature “stop” signal in the code means the protein specified by that gene cannot be made and is, therefore, likely to be a highly damaging change. On the other hand, not all changes we see in the DNA sequence are necessarily disease-causing. Some mutations are “silent” and do not affect the protein at all. Others may change the way the genetic information is relayed from the DNA to the cellular machinery that makes the protein so insufficient amounts of the protein are made. Other mutations change which amino acid is specified at a particular position in the protein. The impact of these more subtle changes may be to completely destroy the function of that protein, partially interfere with the way the protein works, or have no effect on the protein at all, all depending on the precise effect the mutation has on the gene. This is why geneticists often need to assess whether a mutation is deleterious or not by making two comparisons. First, they must compare the mutated sequence in the patient to the sequences of other people with the same disease to see if the mutated sequence has been seen before, and therefore is likely to be disease-causing. Second, they must compare the mutated sequence to the sequences of people without the disease to see if the change is common in normal people and therefore likely to be a normal variation. In the absence of such information, or other knowledge gained from laboratory investigation of the normal protein, a mutation may be termed a “variant of unknown significance” until additional information becomes available. The interpretation of genetic testing is therefore complex and requires the sophisticated knowledge of genetics possessed by trained geneticists and genetic counselors.

When is Genetic Testing Used?

     There are many situations in which genetic testing is carried out. Genetic testing is used for both prenatal and postnatal diagnosis of specific conditions, to help in decision making with regards to management of the condition, to alert the asymptomatic relatives of a patient with a genetic disease of their risk of developing the same condition, or to inform a couple who do not themselves have the condition, of their risk of having a child with the disorder. In each of these situations, the decision whether or not to carry out genetic testing requires a sophisticated understanding of the purposes and implications of the test under consideration. Some of these factors include: the particular nature of the disease in question; how it is inherited and whether there is prevention or treatment for it; how sensitive and specific the testing is for diagnosis; how predictive the test is for the development of disease; whether it will be useful or harmful to the patient and his family to know whether he has a gene mutation associated with a disease; the impact of a positive or negative test on medical or psychological management, and; a host of other factors that often require genetic counseling to explore and explain to the patient and his/her doctor.

     To help provide a more concrete depiction of the nuances of genetic testing, we will explore the use of genetic testing in long-QT syndrome, a group of inherited disorders affecting heart rhythm. The QT interval is assessed by an electrocardiogram’s (ECG’s) electrical tracing of the interval between when electrical impulses reach the main pumping chambers (ventricles) of the heart and cause the ventricles to contract and when the ventricular contraction is over and the ventricular muscle is once again ready to receive another electrical impulse so it can contract again.

     In the long-QT syndromes, individuals have a mutation in one of the genes that specify certain proteins that connect the heart muscle cells together and conduct the electrical impulses throughout the heart. In long-QT syndrome patients, heart contraction can become abnormal, causing the patient to faint suddenly and, in the worst case, suffer sudden death from a completely uncoordinated heart muscle that cannot pump blood. Many individuals with long-QT syndrome may have no symptoms until they reach adolescence or until they take certain medications that trigger an abnormal heart rhythm; others may never have an attack even though they carry a long-QT syndrome gene mutation.

     Long-QT syndrome is inherited in an autosomal dominant manner. To understand this inheritance pattern, we need to remember that nearly all genes (except those on the X chromosome in males) are present in pairs. Each person receives one member of any pair of genes from his father and the other member of that pair from his mother; when he himself has children, he has a 50% chance of passing on the gene he got from his father and a 50% chance of passing on the gene he got from his mother, with each child. In an autosomal dominant condition, only one member of a pair of genes needs to have a mutation for the disease to occur. A person with an autosomal dominant disease has a 50% chance of passing on the mutated gene and a 50% chance of passing on the normal copy. Depending on the disease and the mutation involved, inheriting the mutation does not necessarily mean the person will develop the disease nor does it predict when the disease may occur. Thus, it is possible to carry the mutation for an autosomal dominant disease and either never develop the disease, or show no current signs of the disease but develop it later in life.

    The individual in Figure 2 (arrow) seeks medical care because of an unexplained fainting episode; his ECG tracing in the ambulance showed a markedly prolonged QT interval. By the time he was seen in the Emergency Room, the QT interval had returned to normal. He had a paternal aunt and a paternal grandmother both of whom had multiple episodes of sudden, unexplained fainting spells. His grandmother died suddenly in her fifties of what was said to be a “heart attack.” The patient’s family tree (“pedigree”) is consistent with autosomal dominant inheritance of the condition, with the patient’s father being a mutation carrier without any symptoms of the disorder.

Figure 2: Pedigree of an individual with autosomal dominant long QT syndrome. The individual with a horizontal line is an asymptomatic carrier; he inherited the genetic mutation but has not experienced any of the symptoms of long QT syndrome.    

      In follow-up with a cardiologist, the patient’s family history of sudden death and fainting came up, both of which are consistent with inherited long-QT syndrome. The cardiologist referred the family to a genetic counselor. The genetic counselor talked to the family about gene sequencing of the genes known to be associated with long-QT syndrome and a blood sample was obtained in order to determine if the patient carries a mutation in one of these genes. As was discussed with the patient, the benefits of finding such a mutation would be: (1) to confirm the diagnosis of long-QT interval, for which the patient will need life-long cardiology follow-up; (2) to help with treatment, since certain forms of long-QT syndrome may be managed with medication while others require an implantable defibrillator to detect abnormal heart beats and automatically deliver a shock to return the heart to normal rhythm; (3) counseling to avoid a long list of medications that prolong the QT interval; (4) the opportunity for other family members at risk for long-QT syndrome to be tested to find out if they are carriers of the same mutation so they can receive appropriate treatment before they experience a potentially fatal abnormal heart rhythm.

    There is a chance that the genetic testing won’t provide useful information. Sequencing of the genes known to be involved in long-QT syndrome may reveal no mutations, in which case the disorder may be due to a mutation in a still-unknown gene that was not examined or the patient had a prolonged QT interval for some other non-genetic reason, such as the use of a QT-prolonging drug. It is also possible that a variant of unknown significance will be found that has not been seen before and is not obviously deleterious to gene function. Interpreting a variant of unknown significance in this situation is difficult and requires a high level of expertise both in genetics and in cardiology.

    Contrast the situation of the long-QT syndrome with the example of early onset familial Alzheimer disease, a rare degenerative brain disease that causes loss of intellectual function and memory in individuals in their 40’s and 50’s and is also inherited as an autosomal dominant disorder. Here, one would consider doing genetic testing in an individual who shows signs suggestive of the disease to aid in the diagnosis. There is, however, no prevention or cure available. The unaffected relatives of an individual affected with the condition must carefully consider whether they would wish to have testing since the disease will eventually occur in everybody with the mutation and there is no prevention or treatment available. Many family members would consider any possible benefit of knowing one carries a mutation causing early onset familial Alzheimer  to be greatly outweighed by the deleterious effects on one’s psychological well-being, not to mention any impact it might have on one’s suitability for life and health insurance. Other family members may feel a strong need to know their risk status, even if there is no prevention available. Genetic counseling is particularly important for genetic testing like this; the genetic counselor will help each family member decide whether or not testing is right for them and prepare them for the impact of their test results or the ongoing uncertainty that comes with not getting tested.

Genetic counseling by sub-specialty

   The patient population, medical goals, and psychological issues addressed in genetic counseling vary between different sub-specialties. The three most common sub-specialties are prenatal, pediatric, and cancer genetics. 

I.    Prenatal genetic counseling:  The client in prenatal genetic counseling is typically a pregnant woman and her partner, or a couple who is planning a pregnancy. The medical focus of prenatal genetic counseling is assessing the conditions for which the fetus is at risk. This is achieved by assessment of the family history, the mother’s age, and screening ultrasound and biochemical tests that assess risk for conditions such as Down syndrome. Diagnoses may be made through genetic testing. The primary psychological goal of the counseling session is often to help the couple decide if they want to have genetic testing. This is particularly important because genetic testing during pregnancy carries a risk of miscarriage. Since testing can diagnose genetic conditions in the fetus, the couple may need counseling to help them decide whether to terminate the pregnancy. 

II.    Pediatric genetic counseling:  Families typically come for a pediatric genetics evaluation to find out if their child has a genetic disease.  Often this evaluation is needed because the child has unusual birth defects or has developed health problems or developmental difficulties of an unclear origin. Other times it is prompted by a known family history of a genetic condition and the goal is to determine if the child inherited that condition. Finally, a newborn child may be referred because of an abnormal newborn screening test that suggests the presence of a genetic disorder. The genetics evaluation typically includes a physical exam, genetic counseling about the diagnosis (if one is made), and any genetic testing that is available to help determine the right diagnosis. One important counseling goal is to help the family adapt to the child’s diagnosis and plan how to manage his health problems. Another frequent goal is to provide information on the risk of the condition recurring in future pregnancies of the couple.

III.    Cancer genetic counseling:  This type of genetic counseling aims to determine if there is a hereditary cancer syndrome in the family and assess the client’s risk of developing cancer, based on the family history or genetic testing. A cancer genetics evaluation is warranted when multiple people in the family have had the same, or related, cancers or when an individual has been diagnosed with cancer at an unusually young age or with cancer occurring simultaneously at more than one site. For example, a 32 year-old woman with breast cancer involving both breasts or with one-sided breast cancer and a mother or sister with ovarian cancer would typically be referred for evaluation for a possible hereditary cancer syndrome. The psychological goals in cancer genetic counseling include both facilitating decision making and adaptation to risk. Genetic testing in the cancer context is often predictive; for example, genetic testing can in some cases tell a woman whether she has a 60-85% risk for breast cancer or the general population risk of 12%. Some women will choose not to have this testing because learning that their risk is much higher than the risk in the general population may make them overly anxious. Counselors also work closely with oncologists to design appropriate surveillance and preventive measures for patients found to be carrying gene alterations that put them at increased risk for cancer.

The challenges of providing genetic counseling

     Family-centered care: Genetic counseling differs from most medical disciplines in its focus on the family instead of the individual. When genetic professionals see an individual with a genetic disease, they address not only that person’s needs, but also the needs of his or her family members. For example, when a man with colon cancer is seen for genetic counseling about hereditary nonpolyposis colorectal cancer, he will be counseled about who else in his family could be at increased risk for cancer and what sort of screening they need. Genetics professionals often provide the family outreach needed in hereditary conditions that most doctors don’t have the time, resources, or expertise to provide.

    This emphasis on the family can sometimes raise perplexing questions about who the client is: is it the individual whose name is on the appointment slip, their family, or both?  For example, genetics professionals will often recommend a genetic test that will have no benefit for the person being tested; the sole purpose of the test is to provide information to their family members.

         Genetic exceptionalism:  Genetic information is often considered different from other medical information, both by health professionals and ethicists, as well as the public. Genetic information is considered exceptional for a variety of reasons:  the information is relevant not only to the individual patient but also to his or her family members; genetic information can be predictive, and: genetic information is sometimes perceived as associated with our identity or sense of individuality, including our freedom to choose whether to have children. The very fact that genetic information is perceived as special means that greater care is warranted in its handling. Genetic counseling aims to address the unique implications of genetic information: what it means for an individual’s future, for their family members, and their life choices. Whether or not genetic information is truly exceptional and which types of genetic information are exceptional is a matter of ongoing debate. What is clear, however, is that genetic counseling is often needed because of the public’s perception that genetic information is exceptional.

        Educational vs. Psychosocial models:  There is an ongoing debate in the field about whether genetic counseling should be a primarily educational or psychological service. The educational model defines genetic counseling as the delivery of health information to the client. This model is built on the assumption that if clients understand all of the relevant information about their risks and the genetic disease in question, then they will be able to make free and informed choices In the psychosocial model, the primary goal is to improve the client’s psychological wellbeing. While some education may occur, the focus in this model is on building a relationship with the client and exploring with them their experiences, emotional reactions, goals, hopes, and family dynamics. A basic assumption of this model is that families can’t integrate information about their genetic condition or risk unless they psychologically process the impact this information has on them, their life, and their loved ones.

     It is unclear how many genetic counselors practice each model. A 2006 study of genetic counseling practice revealed that many genetic counselors practice a model that is a hybrid of the two[4].

     The challenge of risk communication:  Research has repeatedly shown that most people have a fairly low level of numeracy, the numeric equivalent of literacy. Genetic counseling often involves the discussion of probabilities and chance, which are nuanced and difficult numerical concepts. To complicate things further, these probabilities may be conditional: “if your family has a hereditary cancer syndrome, then you have a 50% chance of inheriting it.”  Genetic counselors use various tools and strategies to try to help clients understand their risks. They may state the risk in different ways:  “you have a 1% or 1 in 100 chance of having a child with Down syndrome.”  It may also help to make the risk more concrete through visual depictions (Figure 3) or verbal descriptions (“If 100 pregnant women like you were in a room, one of them would have a baby with Down syndrome”).

Figure 3:  Visual risk communication. Each picture depicts the risk of disease by diagramming the proportion of individuals (dark) who will get the disease.

    The psychology of risk perception can further complicate risk communication. When a person is fearful of what they are at risk for (cancer, having a child with a genetic condition), their anxiety may distort their understanding of their risk. This is a time when the genetic counselor’s psychological counseling skills become important. If an at-risk client significantly overestimates their risk it may be a sign that what they need more than education about their risk is help in coping with their fears and anxieties.

“What would you do?” - Directive vs. non-directive genetic counseling

     Genetic counseling developed with a particularly heightened emphasis on protecting a patient’s freedom to choose, his or her autonomy, because the focus of counseling was so often on reproductive choice:  whether or not to have children or whether or not to terminate a pregnancy. The ideal of protecting a patient’s freedom of choice through non-directive counseling was also a way to distinguish genetic counseling from eugenics.

     In practice the ethos of non-directive counseling translated into not answering the inevitable question: “What would you do in my shoes?”  It was thought that patient autonomy would be protected if counselors refrained from offering advice or direction when clients were making reproductive choices or deciding whether or not to have a genetic test. Genetic counselors strived to provide information in an impartial manner that would enable the client to make an informed and fully independent decision, free from influence of coercion.

     In recent years, scholars and leaders in the field of genetic counseling have begun to question whether the ideal approach to counseling is always to be strictly non-directive[5]. First, it has been argued that truly non-directive counseling is unachievable because it is impossible for anyone, professional counselors included, to be completely impartial in an interpersonal interaction. Second, many of the thought leaders in genetic counseling argue that strictly non-directive counseling may not even always be the best thing for their clients. The ‘hands-off’ approach of non-directiveness can be psychologically damaging as it may leave the client feeling abandoned and unsupported. Furthermore, many counseling situations are fraught with ambiguities, psychological stresses and ethical dilemmas that may confuse patients and interfere with their decision making process, leading to what the client will later realize was a bad decision personally. Instead, counselors who are urging a re-examination of strict non-directiveness in counseling argue that patient autonomy and psychological well-being may be better served by working closely with their clients to understand their values, needs, and cultural backgrounds, as they relate to the decision they are facing. The counselor can use that understanding to guide the family through the decision, including making overt recommendations about what choice the counselor feels is best for them, based on a careful assessment of their emotional and medical needs. While this approach is quite contrary to the non-directive ethos upon which genetic counseling was originally founded, and places a heavy burden on the counselor to be extremely vigilant about inserting his or her own beliefs and values into the decision process, it is still argued that guiding clients to come to what is the best decision for the client does more to protect and ensure patient autonomy than a strictly non-directive approach.

The Future of Genetic Counseling

     As a result of the extensive investment in human genetic research, including the Human Genome Project and its spin-offs, geneticists are accumulating a vast amount of information on how much variation there is between individuals in their genetic make-up and how these differences can influence the risk for disease. As one illustration of the importance of progress in this field, Science, the journal of the American Association for the Advancement of Science, named human genetic variation as its “Breakthrough of the Year” for 2007.  Some genetic variants have such a powerful effect that they can actually cause disease most of the time in anyone who has them; in most cases, however, the link between genetic variation and disease is far more complex. Variants at one gene interact with other genes and with environmental and life-style exposures to increase the risk for disease. Every field of medicine deals with diseases in which differences in genetic make-up influence either the risk of developing disease or the outcome for people who do develop them. Unfortunately, it is often the case that our ability to identify the genetic variation that influences the risk or course of an illness comes well before our ability to use that information to intervene and alter the outcome. Thus, we face a growing challenge in communicating what the risk of genetic variants means for patients, their unborn children, their families, and the physicians caring for them. Genetic counselors have the training and experience to help patients and their families deal with the uncertainty that arises from hereditary predisposition to illness, to take advantage of interventions that may lessen or prevent the occurrence of hereditary disease, and to cope with disease in themselves or their families when it is unavoidable. Furthermore, genetic counselors have the skills and expertise to work with physicians of all specialties to incorporate genetics into the care of their patients. The demand for genetic counseling services will only grow – the question remains whether society is willing to pay for these needed services in the face of expanding health care costs.
 
 







Genetics organizations
•    The National Society of Genetic Counselors (www.nsgc.org)
•    The American Board of Genetic Counselors (www. abgc.net)
•    The American Society of Human Genetics (www.ashg.org)
•    The American College of Medical Genetics (www.abmg.org)
•    The Genetic Alliance (www.geneticalliance.org)
•    The Coalition for Genetic Fairness (www.geneticfairness.org)
•    The Nation Coalition for Health Professional Education in Genetics (www.nchpeg.org)

Books on genetic counseling:
Baker DL, Schuette, Jl and Uhlman, WR. A Guide to Genetic Counseling. Wiley-Liss, New York NY. 1998.

Kessler, S. Psyche and Helix: Psychological Aspects of Genetic Counseling
Wiley-Liss, New York NY, 2000.

Nussbaum RL, McInnes RR and Willard, HF. Thompson and Thompson, Genetics in Medicine. 7th edition. Elsevier, Philadelphia, Chapter 19.

Weil, J. Psychosocial Genetic Counseling. Oxford University Press, New York, 2000.


Books on families’ experiences with genetic conditions:
Zuckoff, M. Choosing Naia: A family’s journey. Beacon Press, 2003.

Wexler, A. Mapping Fate: A memoir of Family, Risk, and Genetic Research
University of California Press, Berkeley, CA. 1996.

References
1.    Resta R, Biesecker BB, Bennett RL, et al. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. Apr 2006;15(2):77-83.
2.    Reed S (1955) Counseling in Medical Genetics. Philadelphia: W.B. Saunders.
3.    Reed S (1975) A short history of genetic counseling. Socl Biol 21:332–339.
4.    Roter D, Ellington L, Erby LH, Larson S, Dudley W. The Genetic Counseling Video Project (GCVP): models of practice. Am J Med Genet C Semin Med Genet. Nov 15 2006;142(4):209-220.
5.    Weil J, Ormond K, Peters J, Peters K, Biesecker BB, LeRoy B. The relationship of nondirectiveness to genetic counseling: report of a workshop at the 2003 NSGC Annual Education Conference. J Genet Couns. Apr 2006;15(2):85-93