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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.
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.
Breast Lumps In WomenBreast lumps in women can have a variety of causes such as breast inflammation, infection, injuries, cancer, and non-cancerous growths. Breast lumps in women are diagnosed with physical exam, mammogram, ultrasound, MRI, and biopsy. Treatment of breast lumps in women depend on the cause.
Colon CancerColon 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.
Fibrocystic Breast ConditionFibrocystic breast condition (sometimes called fibrocystic breast disease) is characterized by lumpiness and usually pain, tenderness, and discomfort in one or both breasts. The condition is very common and benign (not malignant). Fibrocystic breast condition is the most common cause of "lumpy breasts" in women. A common symptom of fibrocystic breast condition is breast pain or discomfort.
Some women with fibrocystic breasts have mile breast tenderness or pain. Other women with the condition may have very painful and tender breasts with lumpy areas that can be felt. Fibrocystic breast condition is most common in women after age 30, which continues through perimenopause and menopause. Women with the condition often have fewer problems after menopause (postmenopause).
Fibrocystic breast condition that involves hyperplasia is associated with a slightly increased risk of developing breast cancer. Atypical hyperplasia is associated with a moderately increased risk of developing breast cancer compared to women with fibrocystic without fibrocystic changes.
Natural and home remedies to help relieve breast pain include NSAIDs like aspiring, Aleve, and Advil. Prescription medication also may help relieve symptoms of fibrocystic breasts.
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.
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.
Polycythemia (High Red Blood Cell Count)
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). Examples of primary polycythemia include:
- Excessive sweating
- Unintended weight loss
- Gouty arthritis, usually in big toe
- Shortness of breath
- Feeling pressure or fullness on the left side of the abdomen where the spleen is located.
- Vision problems
- Heavy bleeding from minor cuts
- Bleeding from the gums
- Redness in the face
- A burning feeling in the hands and feet
Complications of a high red blood cell count include blood clots, heart attack, stroke, enlarged liver and spleen, angina (heart pain), AML leukemia, and heart failure. Blood clots in the liver or kidney can cause sudden, intense pain. Treatment goals for patients with polycythemia are to manage symptoms and reduce the risk of complications like heart attack and stroke.
REFERENCE: NIH. National Heart, Lung, and Blood Institute. "What Causes Polycythemia Vera"? Updated: Mar 20, 2011.
Sweat Chloride TestThe 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.