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Genetic Counseling

Genetic Counseling


Genetic counseling aims to facilitate the exchange of information regarding a person's genetic legacy. It attempts to:

  • accurately diagnose a disorder
  • assess the risk of recurrence in the concerned family members and their relatives
  • provide alternatives for decision-making
  • provide support groups that will help family members cope with the recurrence of a disorder.


Genetic counselors work with people concerned about the risk of an inherited disease. The counselor does not prevent the incidence of a disease in a family, but can help family members assess the risk for certain hereditary diseases and offer guidance. Many couples seek genetic counseling because there is a family history of known genetic disorders, infertility, miscarriage, still births, or early infant mortality. Other reasons for participating in genetic counseling may be the influences of a job or lifestyle that exposes a potential parent to health risks such as radiation, chemicals, or drugs. Any family history of mental retardation can be of concern as is a strong family history of heart disease at an early age. Recent statistics show a 3% chance of delivering a baby with birth defects. An additional 2% chance of having a baby with Down syndrome is present for women in their late thirties and older.

Genetic counseling may take on new emphasis in the near future as genetic research continues to advance. In April 2003, the Human Genome Project announced completion of mapping the entire human genetic makeup. The project identified more than 1,400 disease genes and completed study of the ethical, legal, and social issues raised by this expanded knowledge of human genetics. As knowledge expands and scientists discover more methods to identify and treat various diseases, people will face more difficult decisions about their own genetic information.


Amniocentesis, one of the specific tests used to gather information for genetic counseling, is best performed between weeks 15 and 17 of a pregnancy and an additional one to four weeks may be required to culture skin cells and analyze them. Thus, these test data are not available to assist prospective parents in decision-making until the second trimester of the pregnancy. Individuals who participate in genetic counseling and associated testing also must be aware that there are no cures or treatments for some of the disorders that may be identified.


With approximately 2,000 genes identified and approximately 5,000 disorders caused by genetic defects, genetic counseling is important in the medical discipline of obstetrics. Genetic counselors, educated in the medical and the psychosocial aspects of genetic diseases, convey complex information to help people make life decisions. There are limitations to the power of genetic counseling, though, since many of the diseases that have been shown to have a genetic basis currently offer no cure (for example, Down syndrome or Huntington's disease). Although a genetic counselor cannot predict the future unequivocally, he or she can discuss the occurrence of a disease in terms of probability.

Genetic counseling also can help people with diseases they may face in their own lifetimes. A 2003 study in Great Britain found that women with a family history of breast cancer were less worried about getting the disease if they had genetic counseling.

A genetic counselor, with the aid of the patient or family, creates a detailed family pedigree that includes the incidence of disease in first-degree (parents, siblings, and children) and second-degree (aunts, uncles, and grandparents) relatives. Before or after this pedigree is completed, certain genetic tests are performed using DNA analysis, x ray, ultrasound, urine analysis, skin biopsy, and physical evaluation. For a pregnant woman, prenatal diagnosis can be made using amniocentesis or chorionic villus sampling.

Family pedigree

An important aspect of the genetic counseling session is the compilation of a family pedigree or medical history. To accurately assess the risk of inherited diseases, information on three generations, including health status and/or cause of death, usually is needed. If the family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Through an examination of the family history a counselor may be able to discuss the probability of future occurrence of genetic disorders. In all cases, the counselor provides information in a non-directive way that leaves the decision-making up to the client.

Family history questionnaire

As more detailed genetic information becomes available, physicians and genetic counselors may feel the need to dig more deeply than a family pedigree allows. In 2004, physicians attending an American College of Medical Genetics meeting announced use of a structured questionnaire with 50 items to consistent, thorough gather family history data. Although the questionnaire's format and terminology were confusing to some patients, once a formula was applied to the answers, it still helped reviewers agree on a counseling plan 79% of the time.

Screening tests

Screening blood tests help identify individuals who carry genes for recessive genetic disorders. Screening tests usually are only done if:

  • The disease is lethal or causes severe handicaps or disabilities.
  • The person is likely to be a carrier due to family pedigree or membership in an at-risk ethnic, geographic or racial group.
  • The disorder can be treated or reproductive options exist.
  • A reliable test is available.

Genetic disorders such as Tay-Sachs disease, sickle-cell anemia, and thalassemia meet these criteria, and screening tests are commonly done to identify carriers of these diseases. In addition, screening tests may be done for individuals with family histories of Huntington's disease (a degenerative neurological disease) or hemophilia (a bleeding disorder). Such screening tests can eliminate the need for more invasive tests during a pregnancy.

Another screening test commonly used in the United States in the alpha-fetoprotein (AFP) test. This test is done on a sample of maternal blood around week 16 of a pregnancy. An elevation in the serum AFP level indicates that the fetus may have certain birth defects such as neural tube defects (including spina bifida and anencephaly). If the test yields an elevated result, it may be run again after seven days. If the level still is elevated after repeat testing, additional diagnostic tests (e.g. ultrasound and/or amniocentesis) are done in an attempt to identify the specific birth defect present.


Ultrasound is a noninvasive procedure that uses sound waves to produce a reflected image of the fetus upon a screen. It is used to determine the age and position of the fetus, and the location of the placenta. Ultrasound also is useful in detecting visible birth defects such as spina bifida (a defect in the development of the vertebrae of the spinal column and/or the spinal cord). It also is useful for detecting heart defects, and malformations of the head, face, body, and limbs. This procedure, however, cannot detect biochemical or chromosomal alterations in the fetus.


Amniocentesis is useful in determining genetic and developmental disorders not detectable by ultrasound. This procedure involves the insertion of a needle through the abdomen and into the uterus of a pregnant woman. A sample of amniotic fluid is withdrawn containing skin cells that have been shed by the fetus. The sample is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material then is extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs disease, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis.

While it has been routine in recent years to suggest amniocentesis to every pregnant woman age 35 and older to screen for Down syndrome, evidence in 2003 began suggesting that it made more sense and was safer to offer blood test screening. The "triple screen" blood test can identify about three-fourths of Down syndrome cases by measuring certain chemicals in the mother's blood.

Chorionic villus sampling

Chorionic villus sampling involves the removal of a small amount of tissue directly from the chorionic villi (minute vascular projections of the fetal chorion that combine with maternal uterine tissue to form the placenta). In the laboratory, the chromosomes of the fetal cells are analyzed for number and type. Extra chromosomes, such as are present in Down syndrome, can be identified. Additional laboratory tests can be performed to look for specific disorders and the results usually are available within a week after the sample is taken. The primary benefit of this procedure is that it is usually performed between weeks 10 and 12 of a pregnancy, allowing earlier detection of fetal disorders. A 2003 study reported that this test resulted in fewer cases of pregnancy loss, amniotic fluid leakage, or birth defects than early amniocentesis.


Genetic diagnosis requires that a couple share information about inherited disorders in their background with the genetic counselor, including details of any genetic diseases in either family. A couple undergoing genetic counseling also reports any past miscarriages and discusses the possibility of exposure to chemicals, radiation (including x rays), or other occupational environmental hazards. The couple also needs to disclose information about personal habits before or during pregnancy such as drug or alcohol abuse and the use of prescription or over-the-counter drugs taken by the mother since the beginning of pregnancy. The genetic counselor explains the procedures used in testing that will be done and describes what each test can and cannot reveal.


Genetic counseling provides couples with information that can help them make decisions about future pregnancies. It also gives couples additional time to emotionally prepare if a disorder is detected in the fetus. The counselor discusses the results of testing and informs the couple if a problem is apparent. The doctor or genetic counselor also discusses the treatment options available. Genetic counseling is done in a non-directive way, so that any treatment selected remains the personal choice of the individuals involved. Genetic counseling can provide information essential for family planning and pregnancy management, thus maximizing the chances of a positive outcome.


Because prenatal testing, such as amniocentesis and chorionic villus sampling, is invasive and carries a 1% risk of miscarriage it should never be considered routine.

Normal results

Screening tests and/or prenatal tests reveal no birth defects or genetic abnormalities.

Abnormal results

A birth defect or genetic disorder is detected. The early diagnosis of birth defects and genetic disorders allows a greater number of treatment options. Some disorders can be treated in utero (before birth while the fetus is still in the uterus), while others may require early delivery, immediate surgery, or cesarean section to minimize fetal trauma. Prior warning of fetal difficulties allows parents time to prepare emotionally for the birth of the child. In some instances, termination of the pregnancy may be chosen. Whatever the test results, this information is essential for family planning and pregnancy management.



"Best Early Test." Fit Pregnancy (October-November, 2003): 37.

"Blood Test Screening Reduces Need for Amniocentesis." Womenós Health Weekly (December 4, 2003): 51.

Bodenhorn, Nancy, and Gerald Lawson. "Genetic Counseling: Implications for Community Counselors." Journal of Counseling and Development (Fall 2003): 497-495.

"Genetic Counseling Questionnaire Helps Assess FamilyÆs Genetic History." Internal Medicine News (April 15, 2004): 45.

"Genetic Counseling Reduces WomenÆs Fears." Womenós Health Weekly (September 11, 2003): 23.

Wechsler, Jill. "From Genome Exploration to Drug Development." Pharmaceutical Technology Europe (June 2003): 18-23.


American Medical Association. 515 N. State St., Chicago, IL 60612. (312) 464-5000.

American Society of Human Genetics. 9650 Rockville Pike, Bethesda, MD 20814-3998. (301) 571-1825.

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (914) 428-7100.


Sickle-cell anemia A chronic, inherited blood disorder characterized by crescent-shaped red blood cells. It occurs primarily in people of African descent, and produces symptoms including episodic pain in the joints, fever, leg ulcers, and jaundice.

Tay-Sachs disease A hereditary disease affecting young children of eastern European Jewish descent. This disease is caused by an enzyme deficiency leading to the accumulation of gangliosides (galactose-containing cerebrosides) found in the surface membranes of nerve cells in the brain and nerve tissue. This deficiency results in mental retardation, convulsions, blindness, and, finally, death.

Thalassemia An inherited group of anemias occurring primarily among people of Mediterranean descent. It is caused by defective formation of part of the hemoglobin molecule.

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Genetic Counseling

Genetic Counseling

Over the last half-century, our understanding of genetic disorders has increased spectacularly. When facts about inherited disorders first came to light, health professionals began to inform families about probable inheritance patterns and recurrence risks (the likelihood that offspring or other relatives might also inherit the disease).

The Need for Genetic Counseling

Receiving a diagnosis of a genetic disorder can have profound impact for both patients and their family members, and it quickly became clear that aside from the need for medical and genetic information, families affected by genetic disorders had educational, social, and psychological needs that required attention. And though families were afflicted with different disorders passed on by different modes of inheritance (autosomal recessive, autosomal dominant , complex, or some other type), certain reactions were observed again and again.

For instance, some parents of children with an autosomal recessive disorder felt profound guilt at having transmitted an inherited disorder to their child. On the other hand, a family member who was spared a genetic disorder that other family members developed frequently suffered "survivor guilt." Health-care providers also noted that family members at risk for developing a late-onset disorder live with intense anxiety about the future and often needed support and counseling. Finally, counseling was seen to be of potential help for family members who incorrectly inferred that they were at risk for having a child with a genetic disorder. Attempts to meet these varied needs and help give people a sense of control over their situation resulted in the emergence of a model of genetic education and support that came to be called genetic counseling.

An Evolving Field

In time, genetic counseling evolved into a profession. Since the early 1970s genetic counselors have been members of health-care teams providing comprehensive and consistent medical genetic services, while also tending to the social and emotional welfare of the patients and their families. In the United States, the first master's degree training program for genetic counseling was established in 1971. Since then the profession has grown tremendously. There are now more than 2,500 genetic counselors in the United States and 25 genetic counseling training programs. Many industrialized countries have adopted the United States's model of training for genetic counselors, and master's-level training programs now exist in Canada, Australia, Great Britain, and South Africa.

As the profession grows, the definition of genetic counseling also continues to evolve. Genetic counseling is currently defined as "a communication process, which helps an individual and/or family in a variety of ways." For instance, genetic counselors help patients and their families to comprehend the medical facts, including the diagnosis, probable course of the disorder, and available treatment options. Genetic counselors also help educate their clients about the way heredity contributes to the disorder and the risk of recurrence in relatives, and to understand the options available for dealing with this risk of recurrence.

Genetic counselors also teach their clients the medical facts relating to a disorder, enabling them to make informed, independent decisions. They understand that only if their clients possess the necessary facts about available medical care and genetic testing can their decisions be free of coercion. Finally, genetic counselors provide information helpful in accessing local and national support resources.

A key aspect of the genetic counselor's work is educational: helping clients to comprehend the genetic implications of their disorder. In addition, the diagnosis of a genetic disorder in an individual often leads to identification of other family members who may be at risk for having or passing on a genetic disorder, so genetic counselors often work with entire families. For instance, if the genetic tests of a female patient with two sisters disclose that she has a genetic change (mutation) in the BRCA1 gene, then her two sisters are at risk for carrying this same genetic change, which can cause breast cancer. Once the patient has been notified and has given her permission, these sisters would then be contacted and given the chance to learn about their own risk of carrying a disease-causing gene.

This second round of counseling is important. Armed with the information about their susceptibility for breast cancer, the sisters might choose to undergo genetic testing themselves, or they might begin early detection screening evaluations. Their new knowledge might also lead them to adopt lifestyle changes that could reduce their risk of developing breast cancer. Even when genetic testing is not available, early identification of at-risk patients and their family members can be valuable and quite possibly lifesaving.

The demand for genetic education and counseling will likely increase as knowledge accumulates about the genetic component of commonly occurring disorders such as breast cancer, Alzheimer's disease, heart disease, diabetes mellitus, and osteoporosis . As a result, a variety of professional specialists, such as genetic educators, physicians, nurses, social workers, medical geneticists, and genetic counselors, will increasingly be called upon to provide genetic education and counseling. Of this group, however, genetic counselors and medical geneticists are the most qualified to perform comprehensive genetic counseling.

Protection as Well as Education

At the same time that they provide beneficial genetic counseling to patients and their families, professionals providing such a service must have a full understanding of the dangers of eugenics . The abuse of genetic information has led to many atrocities in the past. In Germany, the Nazis murdered nearly 7 million "genetically defective" people during World War II and forcibly sterilized nearly half a million others, all in the name of "eugenics"a policy that calls for the systematic elimination of "unfit" members of the population. The United States also has a checkered past with respect to eugenics. In the early twentieth century, the United States passed laws allowing sterilization of the mentally handicapped and limiting the number of "genetically inferior" ethnic groups that were allowed to immigrate.

In order to prevent such abuses from ever occurring again, the genetic counseling profession has followed in the footsteps of other health-care professions by establishing a code of ethics guiding professional behavior. Policies such as nondirectiveness, prevention of genetic discrimination, respect for patients' beliefs, complete disclosure, and informed consent are components of these ethical principles. Nondirectiveness, one of the major tenets of genetic counseling, is defined by the National Society of Genetic Counselors as enabling "clients to make informed independent decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences."

Genetic counseling has become a vital part of medical genetics. With the knowledge gained from the past and the tools to help patients choose their paths, genetic counseling will continue to be invaluable in the rapidly growing field of human genetics.

see also Eugenics; Genetic Counselor; Genetic Testing; Inheritance Patterns; Prenatal Diagnosis.

Chantelle Wolpert


Epstein C. J., et al. "Genetic Counseling." American Journal of Human Genetics 27 (1975): 240-242.

Fine, B., and M. Koblenz. "Conducting Pre-Test Patient Education." In Humanizing Genetic Testing: Clinical Applications of New DNA Technologies. Evanston, IL: Northwestern University, 1994.

Kessler, S. "Psychological Aspects of Genetic Counseling VI: A Critical Review of the Literature Dealing with Education and Reproduction." American Journal of Medical Genetics 34 (1989): 340-353.

. "Process Issues in Genetic Counselling." Birth Defects 28, no. 1 (1992): 1-10.

National Society of Genetic Counselors. "Genetic Counseling as a Profession." In National Society of Genetic Counselors. Wallingford, PA: National Society of Genetic Counselors, Inc., 1983.

Reed, S. "A Short History of Genetic Counseling." Social Biology 21 (1974): 332-339.

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Genetic Counseling

Genetic Counseling

Genetic counseling is the process in which a specially trained professional communicates with a person, couple, or family about the occurrence, or chance of occurrence, of a birth defect or genetic condition. Genetic counselors, who have training in both human genetics and counseling, may have an M.D., Ph.D., R.N., or M.S. degree. While many genetic counselors work in university medical centers, others work with private hospitals, state or federal health departments, diagnostic laboratories, or in private practice.

Many individuals, in a variety of situations, may benefit from genetic counseling. Examples of common circumstances in which genetic counseling might be sought are as follows:

  1. A forty-five-year-old pregnant woman and her partner are concerned because her obstetrician has informed them that their pregnancy is at increased risk for Down syndrome and other chromosomal abnormalities because of her age.
  2. A twenty-three-year-old woman has just given birth to a baby with a birth defect called spina bifida, which can cause some paralysis in the lower limbs and may affect bowel and bladder control. She is concerned about a possible genetic contribution to this condition.
  3. A couple in their late twenties is concerned about their two-year-old son's behavior. He is hyperactive and has not yet begun to talk. Their pediatrician recommends a special blood test for the child, which reveals that he has a genetic condition called fragile X syndrome.
  4. A couple in their forties has just learned that the husband's mother has been diagnosed with Huntington's disease, a late-onset, degenerative disorder that is hereditary. They are confused about what this means for the mother, for them, and for their three children.
  5. Sarah and her boyfriend are moving closer to marriage. She is reluctant to be married until she can discover whether the muscular dystrophy that affected her brother and her uncle may be passed along to her own children.

These scenarios illustrate a few of the situations in which people pursue genetic counseling. Although the specific information discussed in each session varies, the genetic counseling process has some common characteristics. A family history is usually taken, and a "family tree" is drawn. Medical information, such as the precise diagnosis, prognosis, and management of the condition, is reviewed in nonmedical, easily understood terms. The way in which heredity contributes to the condition is also discussed. Specialized tests, and their risks and benefits, are described. This is the science-oriented aspect of the practice of genetic counseling.

Just as important to the process are the active listening and counseling skills practiced by the genetic counselor. He or she pays careful attention to words and gestures and notices the way clients interact. The genetic counselor attempts to create an environment in which people feel entirely comfortable expressing the variety of feelings related to having a birth defect or genetic condition, either in themselves or in a family member. These emotions include, among others, anger, sadness, fear, shame, and guilt. By facilitating this type of communication, the genetic counselor assists the clients in adjusting to the condition.

The cornerstone of the practice of genetic counseling is that it is nondirective. The autonomy of the client, and the right of the individual to make decisions based on his or her own values and beliefs, is paramount. Therefore, a genetic counselor must be willing to work with the client to find the path that seems best from the client's point of view.

The demand for genetic counseling has grown as knowledge about the human genome has increased. For a growing number of conditions, a person's DNA can be examined to determine whether a malfunctioning gene is present. DNA testing might reveal that someone who is now perfectly healthy will later become affected by a genetic condition, such as Huntington's disease (see example 4), or it might be determined that a healthy woman carries a gene that may cause a genetic disease in her children (such as in example 5).

DNA technology holds remarkable power. Prior to its development, those with a family history of a genetic condition made major life decisions, such as whether to have a child, based on a statistical analysis of the chance that the condition would be passed along. Now, for many conditions, an at-risk person can be tested and can know for sure whether he or she has the gene. Prenatal diagnosis, through methods such as chorionic villus sampling and amniocentesis, allows DNA to be obtained from the fetus to determine whether a pregnancy is affected with a genetic disease. Individuals who learn that they may pass along a genetic condition might choose to avoid this risk by conceiving using artificial insemination or in vitro fertilization with a donor egg. They may, on the other hand, choose to adopt a child. Those who decide to have their own biological children can now do so with a better understanding of their risks and can have the opportunity to prepare for the birth of a child with an inherited condition or a birth defect.

This technology, while increasing the amount of information and the number of options an individual has, can lead to other dilemmas. An issue fraught with ethical, moral, and religious overtones is the question of aborting a pregnancy affected with a genetic condition or birth defect. In this situation and many others, genetic counselors provide information and support for the individuals to make their own decisions concerning these difficult issues.

Although the day researchers can determine the entire genetic code for any person remains in the future, the field of genetics is providing an ever-increasing number of people with a higher level of understanding and a greater array of choices. It is the role of genetic counseling to assist people as they grapple with these increasingly complex situations.

See also:Abortion; Pregnancy and Birth


applebaum, e. g., and firestein, s. k. (1983). a geneticcounseling casebook. new york: free press.

baker, d. l.; schette, j. l.; and uhlmann, w. r. (1998). aguide to genetic counselling. new york: wiley-liss.

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harper, p. s., and clarke, a. (1997). genetics, society, andclinical practice. oxford: bios scientific; herndon: distributors, usa and canada, bios scientific.

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alicia craffey (1995)
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Genetic Counselor

Genetic Counselor

Genetic counselors are health professionals trained in genetics, genetic disorders, genetic testing, molecular biology, psychology and psychosocial issues, and the ethical and legal issues of genetic medicine. Most genetic counselors have a master's degree from a genetic counseling training program. The very first class of genetic counselors was graduated from Sarah Lawrence College in 1971. There are about 2,000 genetic counselors in the United States. Most are women under the age of forty, but the field is becoming more diverse.

Genetic counselors are board-certified by the American Board of Genetic Counseling. Board eligibility or certification is required for employment in many positions, and some states are beginning to license genetic counselors. While salaries vary significantly by geographic location, years of experience, and work setting, according to a Professional Status Survey conducted by the National Society of Genetic Counselors, Inc. (NSGC) in 2000 the mean salary for a full-time master's-level genetic counselor was $46,436. The NSGC, incorporated in 1979, is the only professional society dedicated solely to the field of genetic counseling. Its mission is "to promote the genetic counseling profession as a recognized and integral part of health care delivery, education, research, and public policy."

The role of the genetic counselor has evolved greatly since 1971. Initially, genetic counselors worked almost exclusively in the clinical setting under physician supervision, seeing clients who had been diagnosed as having a genetic disorder, were at risk for developing a genetic disorder, or were at risk for having a child with a genetic disorder. They would assess genetic risk, provide information, discuss available testing options, and provide appropriate supportive counseling. The variety of patients and the information and testing options offered by genetic counselors was greatly restricted by the limited technology and genetic knowledge of the time.

Today, as a result of the Human Genome Project and other advances, genetic counselors are now able to offer more services and options. They are able to specialize in a particular area of interest, such as cancer, prenatal, pediatric, assisted reproduction, and metabolic or neurogenetic disorders. Most genetic counselors (more than 80 percent) still work in the clinical setting, either in a hospital or in private practice. However, advances in genetics have enabled genetic counselors to work in a variety of other settings including research, public health, education, and industry.

As a patient advocate , the genetic counselor also remains informed of ethical and legal issues regarding the use of information generated by the Human Genome Project and incorporates pertinent information into the counseling session. For example, the decision to undergo genetic testing may involve controversial issues. Depending on the type of test and the disorder present, testing may have implications for other family members, insurance eligibility or coverage, employment, and quality of life. It is the role of the genetic counselor to ensure that clients are aware of concerns relevant to their situation.

Opportunities for the genetic counselor also exist to consult on research projects, guest lecture, publish articles and books, and teach. Broad training makes genetic counselors highly adaptable to virtually any setting where genetic information is utilized. Overall, genetic counseling is a dynamic and evolving profession.

see also Genetic Counseling; Genetic Testing; Genomic Medicine; Population Screening.

Susan E. Estabrooks


Baker, Diane L., Jane L. Schuette, and Wendy R. Uhlmann, eds. A Guide to Genetic Counseling. New York: Wiley-Liss, Inc, 1998.

Internet Resource

National Society of Genetic Counselors, Inc. <>.

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Genetic Counselor

Genetic Counselor

A genetic counselor is a medical professional who serves as a liaison between an individual or family and a physician or medical team. The counselor interprets genetic test results and provides information to help patients make medical or lifestyle choices, based on knowledge gained from genetic tests.

Genetic counselors are trained in genetics, statistics, and psychology, and usually have master's degrees from genetic counseling programs. Nurses, social workers, physicians, and Ph.D. geneticists also do genetic counseling. The job requires a combination of technical expertise and compassiona genetic counselor must love working with people and be able to offer comfort under stressful circumstances.

During a typical session, the counselor asks many questions from which he or she constructs a pedigree, which is a family tree that depicts certain traits or illnesses. From this information, he or she can recognize or deduce the mode of inheritance (dominant or recessive, sex-linked or autosomal), predict which family members are likely to be affected, and suggest specific medical tests.

The first genetic counselors graduated from Sarah Lawrence College in Bronxville, New York, in 1971, against a backdrop of concern over such medical matters as test tube babies, heart transplants, and recombinant DNA (deoxyribonucleic acid) technology. At that time, genetic testing for sickle cell disease and Tay-Sachs disease was a prelude to the more widespread testing of the twenty-first century.

Until the early twenty-first century, patients seeking genetic counseling either had family histories of rare, single-gene disorders or were at high risk of carrying a fetus with a chromosomal or congenital problem, due to "advanced maternal age" or exposure to harmful substances (teratogens), respectively. With the sequencing of the human genome , the spectrum of conditions that a genetic counselor confronts is broadening considerably to include much more common disorders, such as cancers and cardiovascular disease, that reflect the input of several genes and the environment. Rather than offering definitive diagnoses based on detecting single abnormal genes, genetic information is more likely to take the form of elevated risk estimates.

see also Gene; Genetic Analysis; Human Genome Project; Patterns of Inheritance

Ricki Lewis


Kling, James. "Genetic Counseling: The Human Side of Science." The Scientist 13 (19 July 1999): 1.

Lewis, Ricki. "Genetic Counselors Struggle for Status." The Scientist 6 (31 August 1992): 1.

. Human Genetics: Concepts and Applications, 4th ed. St. Louis: McGraw-Hill Higher Education, 2001.

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genetic counselling

genetic counselling n. the procedure by which patients and their families are given advice about the nature and consequences of inherited disorders, the possibility of becoming affected or having affected children, and the various options that are available to them for the prevention, diagnosis, and management of such conditions.

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