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Frequently Asked Questions About Genetic Counseling
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees and experience in medical genetics and counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic professionals:
- Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
- Weigh the medical, social and ethical decisions surrounding genetic
- Provide support and information to help a person make a decision about
- Interpret the results of genetic tests and medical data.
- Provide counseling or refer individuals and families to support services.
- Serve as patient advocates.
- Explain possible treatments or preventive measures.
- Discuss reproductive options.
How do I find a genetic professional?
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic.
As more has been learned about genetics, genetic professionals have grown more specialized. For example, they may specialize in a particular disease (such as cancer genetics), an age group (such as adolescents) or a type of counseling (such as prenatal).
How do I decide whether I need to see a geneticist or other specialist?
Your health care provider may refer you to a geneticist - a medical doctor or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a fellowship or has other advanced training in medical genetics. While a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist will make the actual diagnosis of a disease or condition. Many genetic diseases are so rare that only a geneticist can provide the most complete and current information about your condition.
Along with a medical geneticist, you may also be referred to a physician who is a specialist in the type of disorder you have. For example, if a genetic test is positive for colon cancer, you might be referred to an oncologist. For a diagnosis of Huntington disease, you may be referred to a neurologist.
These online resources can help you find a genetic professional in your community:
A database of genetics counseling services, searchable by location, name, institution, type of practice or specialty. Hosted by the National Society of Genetic Counselors.
- Genetic Centers,
Clinics and Departments
A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
A searchable directory of international genetics and prenatal diagnosis clinics.
SOURCE: National Human Genome Research Institute, "Frequently Asked Questions About Genetic Counseling."
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AmniocentesisDuring an amniocentesis, a sample of the amniotic fluid is taken to screen for certain birth defects (Down's syndrome, neural tube defects, spina bifida, cystic fibrosis), lung maturity of the fetus, infection, or chromosome analysis. Amniocentesis is recommended for women giving birth after the age of 35.
AnemiaAnemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, menstruation, and medications. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Autism Screening and DiagnosisAutism spectrum disorder (ASD) diagnosis requires two steps -- developmental screening and comprehensive diagnostic evaluation. Develpmental screening helps tell if children have delays. Comprehensive diagnostic evaulation may include looking at the child's behavior and development and interviewing the parents. It may also include hearing and vision screening, genetic testing, neurological testing, and other medical testing.
Colon CancerColon cancer (bowel cancer) is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
Genetic Diseases (Disorder Definition, Types, and Examples)The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Genetic Testing for Breast CancerIntensive genetic counseling is required before undergoing genetic tests for breast cancer. During this educational counseling session, the health care provider can fully explain the benefits and risks of genetic testing and answer any questions you may have. You will also be required to sign a consent form prior to participating in any genetic tests. The form is an agreement between you and your doctor, showing that you have discussed the test and how its results might affect your family.
Homocysteine (Normal and Elevated Levels Blood Test)
Elevated homocysteine levels in the blood called hyperhomocysteinemia, is a sign that the body isn't producing enough of the amino acid homocysteine. is a rare and serious condition that may be inherited (genetic). People with homocystinuria die at an early age. Symptoms of hyperhomocysteinemia include developmental delays, osteoporosis, blood clots, heart attack, heart disease, stroke, and visual abnormalities.
There are other causes of hyperhomocysteinemia, for example, alcoholism.
Supplementing the diet with folic acid and possibly vitamins B6 and B12 supplements can lower homocysteine levels. Currently there is no direct proof that taking folic acid and B vitamins lower homocysteine levels and prevent heart attacks and strokes. Talk to your doctor if you feel you need to have your homocysteine blood levels checked.
High Red Blood Cell Count (Polycythemia)Polycythemia (elevated red blood cell count) is a rare blood disease in which the body produces too many red blood cells. Causes of polycythemia are either primary (acquired or genetic mutations) or secondary (diseases, conditions, high altitude).
Sickle Cell Disease (Anemia)Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is caused by an inherited abnormal hemoglobin.
Symptoms of sickle cell anemia may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury.
Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Sweat Chloride Test (Cystic Fibrosis)The sweat chloride test is a common test used to evaluate a patient suspected of having cystic fibrosis. Cystic fibrosis is a genetic disease common in Caucasians. The sweat chloride test is a fairly simple and painless procedure.