Genetic Consultation

A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. Genetic disorders are caused by mutations or defects in genes. Genetic consultation is used in combination with genetic testing. For instance, expecting parents may consult a genetics professional to learn about the risk of their baby having an inheriteddisease. Genetic professionals include medical geneticists, and genetic counselors.

A disease could be described as “running in a family” if more than one person in the family has the condition. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited (passed down from parent to child). Other conditions that appear to run in families are not caused by mutations in single genes. Instead, environmental factors such as dietary habits or a combination of genetic and environmental factors are responsible for these disorders. It is not always easy to determine whether a condition in a family is inherited. A genetics professional can use a person’s family history (a record of health information about a person’s immediate and extended family) to help determine whether a disorder has a genetic component. He or she will ask about the health of people from several generations of the family, usually first-, second-, and third-degree relatives. Source: National Library of Medicine, Genetics Home

Other Names

• Genetic Counseling

Description

A genetic consultation is a health service that provides information and support to people who have, or may be at risk for, genetic disorders. During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition.

The goals of a consultation are to interpret and communicate complex medical information and to each person make informed, independent decisions about their health care and reproductive options. However, the role of genetic professionals does not include the following:

• tell a person which decision to make
• advise a couple not to have children
• recommend that a woman continue or end a pregnancy
• tell someone whether to undergo testing for a genetic disorder

Why Genetic Consultation Is Done

Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. A genetic counselor, medical geneticist, or other genetics professional may be consulted under one of several scenarios:

• personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer
• two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died
• a child with a known inherited disorder, a birth defect, mental retardation, or developmental delay
• a woman who is pregnant or plans to become pregnant at or after age 35. This is sometimes called advanced maternal age.
• abnormal test results that suggest a genetic or chromosomal condition
• increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background
• people related by blood (for example, cousins) who plan to have children together (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)

A genetic consultation is also an important part of the decision-making process for genetic testing. A visit with a genetics professional may be helpful even if testing is not available for a specific condition.

How Genetic Consultation Is Done

During a consultation, a genetics professional meets with an individual or family to discuss genetic risks or to diagnose, confirm, or rule out a genetic condition.

Consultations usually take place in a doctor’s office, hospital, genetics center, or other type of medical center. These meetings are most often in-person visits with individuals or families, but they are occasionally conducted in a group or over the telephone.

A genetic consultation provides information, offers support, and addresses specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professional asks about a person’s medical history and takes a detailed family history (a record of health information about a person’s immediate and extended family). The genetics professional may also perform a physical examination and recommend appropriate tests.

If a person is diagnosed with a genetic condition, the genetics professional provides information about the diagnosis, how the condition is inherited, the chance of passing the condition to future generations, and the options for testing and treatment.

Benefits

Genetic testing has potential benefits whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. For example, a negative result can eliminate the need for unnecessary checkups and screening tests in some cases. A positive result can direct a person toward available prevention, monitoring, and treatment options. Some test results can also help people make decisions about having children. Newborn screening can identify genetic disorders early in life so treatment can be started as early as possible.

Risks

The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a procedure that samples cells from the inside surface of the cheek). The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.

Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern.

Genetic testing can provide only limited information about an inherited condition. The test often can’t determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.

A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.

Experts on Genetic Consultation

Professionals involved in genetic counseling include medical geneticists, genetic counselors, and genetic nurses.

Medical geneticist. A medical geneticist is usually an MD or a DO (occasionally a PhD) who has completed fellowship (or comparable) training in medical genetics. The American Board of Medical Genetics (ABMG) certifies medical geneticists. Medical genetics is a recognized subspecialty of the American Board of Medical Specialties (ABMS). The American Society of Human Genetics (ASHG) is the professional organization and the American College of Medical Genetics (ACMG) is the representative body for geneticists.

Genetic counselor. A genetic counselor has completed a masters' level training program specializing in genetic counseling. The American Board of Genetic Counseling (ABGC) certifies genetic counselors. Before 1993, The American Board of Medical Genetics (ABMG) certified genetic counselors. The National Society of Genetic Counselors (NSGC) is the professional organization for genetic counselors.

Genetic nurse. Genetic nurses are typically registered nurses or masters' level nurses with special training in human genetics. Their professional organization is The International Society of Nurses in Genetics (ISONG).

Other healthcare professionals such as nurses, psychologists, and social workers trained in genetics can also provide genetic consultations.

Controversy

Direct-to-consumer genetic testing

Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors. Healthcare providers order the appropriate test from a laboratory, collect and send the samples, and interpret the test results. Direct-to-consumer genetic testing removes the genetic consulation from the genetic testing process. Direct-to-consumer genetic testing refers to genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person’s genetic information without necessarily involving a doctor or insurance company in the process.

Information about direct-to-consumer tests is available from the Federal Trade Commission ^[1]

Genetic discrimination

Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. People who undergo genetic testing may be at risk for genetic discrimination.

The results of a genetic test are normally included in a person’s medical records. When a person applies for life, disability, or health insurance, the insurance company may ask to look at these records before making a decision about coverage. An employer may also have the right to look at an employee’s medical records. As a result, genetic test results could affect a person’s insurance coverage or employment. People making decisions about genetic testing should be aware that when test results are placed in their medical records, the results might not be kept private.

Fear of discrimination is a common concern among people considering genetic testing. Several laws at the federal and state levels help protect people against genetic discrimination; however, genetic testing is a fast-growing field and these laws don’t cover every situation.

Information about genetic discrimination is available from The National Human Genome Research Institute ^[2], The Genetic Alliance ^[3], and The Australian Research Council ^[4].

Research

Recent news

• The completion of the Human Genome Project is greatly expanding the diseases and conditions amenable to genetic testing. It has also allowed the use of genetic testing to help create individualized treatment plans and to assess risks for various conditions, that in the past have not been thought of as genetic diseases.
• Research has recently been done on and is ongoing regarding the genetic susceptibility to various infectious diseases in Africa. Because there is a great deal of genetic variation among the people of Africa and because there are several infectious diseases (malaria, tuberculosis, schistosomiasis and HIV/AIDS that are problematic in the continent, genetic studies may be helpful in prevention and finding cures for these diseases. ^[5]
• A 2006 study from Thailand reviews the impact of genetic diversity on the transmission of diseases (specifically several parasitic diseases). ^[6]
• The genetics of sarcoidosis and other granulomatous diseases has also recently been studied. ^[7]

Clinical Trials

There are literally hundreds of clinical trials relating to genetic testing available here: genetic testing trials and genetic counseling trials . To narrow the list, genetic testing and the name of the disease can be entered in the search field.

References

1. ↑ Federal Trade Commission. FTC Facts for Consumers. At-Home Genetic Tests: A Healthy Dose of Skepticism May Be the Best Prescription.
2. ↑ National Human Genome Research Institute web site. Overview of Genetic Discrimination.
3. ↑ The Genetic Alliance web site. Genetic Discrimination
4. ↑ The Australian Research Council web site. Genetic Discrimination Project
5. ↑ Sirugo G, Hennig BJ, Adeyemo AA, et al. Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics. Hum Genet. 2008 Jul;123(6):557-98. Epub 2008 May 30. Abstract
6. ↑ Tibayrenc M. Human genetic diversity and the epidemiology of parasitic and other transmissible diseases. Adv Parasitol. 2007;64:377-422. Abstract
7. ↑ Smith G, Brownell I, Sanchez M, Prystowsky S. Advances in the genetics of sarcoidosis. Clin Genet. 2008 May;73(5):401-12. Epub 2008 Feb 26. Abstract

External Links

University of Washington: GeneTests.Org.

National Human Genome Research Institute: Genome.Gov.

The Centre for Genetics Education (Australia): Genetics.com

National Newborn Screening and Genetics Resource Center.

Cedars-Sinai Medical Genetics Institute

The American College of Medical Genetics

American Board of Medical Genetics

National Society of Genetic Counselors

AccessDNA.com: Genetic Consultation