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Genetic ConsultationFinding and visiting a genetic counselor or other genetics professional Please choose from the following list of questions for information about meeting with a genetics professional (such as a medical geneticist or genetic counselor). On this page:
What is a 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. 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. Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling). Other healthcare professionals such as nurses, psychologists, and social workers trained in genetics can also provide genetic consultations. 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. For more information about genetic consultations:MedlinePlus offers a list of links to information about genetic Additional background information is provided by the National Genome Research Institute in its Frequently Asked Questions About Genetic Information about genetic counseling, including the different types of counseling, is available from the National Society of Genetic Counselors in its booklet Making Sense of Your Genes: A Guide to Genetic The Centre for Genetics Education also offers an introduction to genetic The National Center for Biotechnology Information (NCBI) provides additional information about genetic Why might someone have a genetic consultation?Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation. The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include:
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, however. For more information about the reasons for having a genetic consultation:The National Center for Biotechnology Information (NCBI) provides a detailed list of common reasons for a genetic An overview of indications for a genetics What happens during a genetic consultation?A genetic consultation provides information, offers support, and addresses a patient’s 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. During a consultation, a genetics professional will:
A genetics professional will NOT:
For more information about what to expect during a genetic consultation:The National Center for Biotechnology Information (NCBI) provides a detailed list of topics that are often discussed during a genetics The National Society of Genetic Counselors offers information about what to expect from a genetic counseling session as part of its FAQs About Genetic Counselors and the Information about the role of genetic counselors and the process of genetic How can I find a genetics professional in my area?To find a genetics professional in your community, you may wish to ask your doctor for a referral. If you have health insurance, you can also contact your insurance company to find a medical geneticist or genetic counselor in your area who participates in your plan. Several resources for locating a genetics professional in your community are available online:
How are genetic conditions diagnosed?A doctor may suspect a diagnosis of a genetic condition on the basis of a person’s physical characteristics and family history, or on the results of a screening test. Genetic testing is one of several tools that doctors use to diagnose genetic conditions. The approaches to making a genetic diagnosis include:
Genetic testing is currently available for many genetic conditions. However, some conditions do not have a genetic test; either the genetic cause of the condition is unknown or a test has not yet been developed. In these cases, a combination of the approaches listed above may be used to make a diagnosis. Even when genetic testing is available, the tools listed above are used to narrow down the possibilities (known as a differential diagnosis) and choose the most appropriate genetic tests to pursue. A diagnosis of a genetic disorder can be made anytime during life, from before birth to old age, depending on when the features of the condition appear and the availability of testing. Sometimes, having a diagnosis can guide treatment and management decisions. A genetic diagnosis can also suggest whether other family members may be affected by or at risk of a specific disorder. Even when no treatment is available for a particular condition, having a diagnosis can help people know what to expect and may help them identify useful support and advocacy resources. For more information about diagnosing genetic conditions:Genetics Home Reference provides information about genetic testing and the importance of family medical history. Additionally, links to information about the diagnosis of specific genetic disorders are available in each condition summary under the heading “Where can I find information about diagnosis or management of...?” Genetic Alliance provides an in-depth guide about genetic counseling called Making Sense of Your
This article from Nature The Centers for Disease Control and Prevention (CDC) offers a fact sheet about the diagnosis of birth Boston Children’s Hospital provides this brief overview of testing for genetic The American College of Medical Genetics offers practice The Agency for Healthcare Research and Quality’s (AHRQ) National Guideline Clearinghouse has compiled screening, diagnosis, treatment, and management
How are genetic conditions treated or managed?Many genetic disorders result from gene changes that are present in essentially every cell in the body. As a result, these disorders often affect many body systems, and most cannot be cured. However, approaches may be available to treat or manage some of the associated signs and symptoms. For a group of genetic conditions called inborn errors of metabolism, which result from genetic changes that disrupt the production of specific enzymes, treatments sometimes include dietary changes or replacement of the particular enzyme that is missing. Limiting certain substances in the diet can help prevent the buildup of potentially toxic substances that are normally broken down by the enzyme. In some cases, enzyme replacement therapy can help compensate for the enzyme shortage. These treatments are used to manage existing signs and symptoms and may help prevent future complications. For other genetic conditions, treatment and management strategies are designed to improve particular signs and symptoms associated with the disorder. These approaches vary by disorder and are specific to an individual’s health needs. For example, a genetic disorder associated with a heart defect might be treated with surgery to repair the defect or with a heart transplant. Conditions that are characterized by defective blood cell formation, such as sickle cell disease, can sometimes be treated with a bone marrow transplant. Bone marrow transplantation can allow the formation of normal blood cells and, if done early in life, may help prevent episodes of pain and other future complications. Some genetic changes are associated with an increased risk of future health problems, such as certain forms of cancer. One well-known example is familial breast cancer related to mutations in the BRCA1 and BRCA2 genes. Management may include more frequent cancer screening or preventive (prophylactic) surgery to remove the tissues at highest risk of becoming cancerous. Genetic disorders may cause such severe health problems that they are incompatible with life. In the most severe cases, these conditions may cause a miscarriage of an affected embryo or fetus. In other cases, affected infants may be stillborn or die shortly after birth. Although few treatments are available for these severe genetic conditions, health professionals can often provide supportive care, such as pain relief or mechanical breathing assistance, to the affected individual. Most treatment strategies for genetic disorders do not alter the underlying genetic mutation; however, a few disorders have been treated with gene therapy. This experimental technique involves changing a person’s genes to prevent or treat a disease. Gene therapy, along with many other treatment and management approaches for genetic conditions, are under study in clinical trials. Find out more about the treatment and management of genetic conditions:Links to information about the treatment of specific genetic disorders are available in each Genetics Home Reference condition summary under the heading “Where can I find information about diagnosis or management of...?”
The Agency for Healthcare Research and Quality’s (AHRQ) National Guideline Clearinghouse has compiled screening, diagnosis, treatment, and management Information related to the approaches discussed above is available from MedlinePlus:
Genetics Home Reference offers consumer-friendly information about gene therapy, including safety, ethical issues, and availability.
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