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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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A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
Alpha-1 Antitrypsin Deficiency (Symptoms, Treatment, Life Expectancy)
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease. Symptoms and signs of lung disease caused by this condition include:
The earliest symptoms and signs of lung disease usually develop between 20 and 50 years of age, and are
- The reduced ability to exercise
- Shortness of breath (dyspnea) following mild activity
Other symptoms and signs of alpha-1 antitrypsin deficiency are:
- Rapid heartbeat when going from sitting to standing
- Recurring respiratory infections
- Unintentional weight loss
Lung disease: People with this condition often develop emphysema, with symptoms of a hacking cough, barrel-shaped chest, and difficulty breathing. If you have this condition and smoke or are exposed to tobacco smoke, it accelerates the appearance of emphysema symptoms and lung damage.
Liver disease: Alpha-1 antitrypsin deficiency also cause liver disease in some people with the condition, that include liver cancer, cirrhosis of the liver, an abnormally large liver (hepatomegaly), liver failure, and hepatitis. Liver damage from alpha-1 antitrypsin deficiency causes symptom of a swollen abdomen, swollen legs or feet, and jaundice.
Treatment of AATD depends upon the severity of symptoms. FDA approved drug for AATD is an orphan product called alpha-1-proteinase inhibitor (human), sold under the brand name "Prolastin."
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.
ALS (Amyotrophic Lateral Sclerosis) Symptoms, Causes, Life ExpectancyAmyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks the nerve cells responsible for the control of voluntary muscles. Early symptoms include cramping, twitching, or stiffness of the muscles; slurred nasal speech; difficulty swallowing or chewing, and muscle weakness in an arm or leg. Currently, the cause of ALS is not known. ALS is a fatal disease. No cure has been found for ALS, however, the drug riluzole (Rilutek) is FDA approved, and this drug reduces the damage to motor neurons by decreasing the release of glutamate.
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 cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast self-examination (BSE), biopsy, and specialized testing on breast cancer tissue. Treatment of breast cancer may involve surgery, radiation, hormone therapy, chemotherapy, and targeted therapy. Breast cancer risk may be lowered by managing controllable risk factors.
Cervical Cancer (Cancer of the Cervix)Cervical cancer is cancer of the entrance to the womb (uterus) caused by the human papillomavirus (HPV). Regular pelvic exams, Pap testing and screening can detect precancerous changes in the cervix. Cervical cancer can be prevented by a vaccine. The most common signs and symptoms are an increase in vaginal discharge, painful sex, and postmenopausal bleeding. The prognosis and survival rate depends upon the stage at which the cancer was diagnosed.
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.
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.