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
testing.
Provide support and information to help a person make a decision about
testing.
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.
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).
Colon 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.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms 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.
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely benign. Only very rarely is a pheochromocytoma malignant.
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene.
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: Classical type, Hypermobility type, Vascular type, Kyphoscoliosis type, Arthrochalsia type, Dermatosparaxis type, and Tenascin-X Deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms are present.
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin.
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through diet, and is found in some artificial sweeteners. Signs and symptoms of PKU may vary from mild to severe. PKU has an autosomal ressesive pattern of inheritance.
Ramsay Hunt syndrome is an infection of a facial nerve that causes a red painful rash with blisters and facial paralysis. The herpes zoster virus causes the infection. The infection is treated with antiviral agents, steroids, and pain medications.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
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.
Amyotrophic 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.
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. Infants with Angelman syndrome often have feeding problems and exhibit noticeable developmental delays by six to 12 months of age. Other symptoms include seizures, hyperactivity, speech impairment, small head size, sleep disorders, and movement and balance disorders. There is no specific treatment or therapy for Angelman syndrome.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor feeding problems in early infancy later followed in infancy by excessive eating that may lead to extreme obesity. The genitals in both females and males are underdeveloped and most are infertile. Prader-Willi syndrome is related to chromosome 15.
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the peripheral nerves. Symptoms include weakness of the lower leg muscles and foot, foot drop, foot deformities, etc. There are several forms of Charcot-Marie-Tooth disease. Inherited gene mutations are the cause of Charcot-Marie-Tooth disease. There is no cure for Charcot-Marie-Tooth disease; however, therapeutical measures and mild exercise may help symptoms.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause liver and lung disease in adults. Signs and symptoms include shortness of breath, wheezing, weight loss, respiratory infections, fatigue, vision abnormalities. Advanced lung disease from alpha-1 antitrypsin deficiency include emphysema. Liver damage from alpha-1 antitrypsin deficiency causes a swollen abdomen, swollen legs or feet, and jaundice.
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the hands, small-raised reddish-purplish blemishes on the skin, fever, decreases sweating, and GI difficulties. Fabry disease patients are at increased risk of heart attack, heart disease, kidney failure, and stroke. Symptoms of Fabry disease can be treated with medication.
Loeys-Dietz syndrome is a syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz syndrome are at a greater risk of dying from the aortic aneurysms, because the aneurysms are prone to rupture at a smaller size than other aneurysms. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair fo the aneurysms.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum develop. Colon polyps and growths may develop as early as the teens. If these polyps are not removed, they will become cancerous. There are different inheritance patterns for familial adenomatous polyposis.
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Mutations in the genetic material (DNA) in the mitochondria cause MELAS syndrome. Symptoms of MELAS include brain dysfunction (encephalopathy) with seizures and headaches, muscle disease with lactic acid build-up in the blood, temporary local paralysis, and abnormal thinking (dementia). There is no known treatment for MELAS.
Familial adenomatous polyposis (FAP) is an inherited disorder
characterized by cancer of the
large intestine (colon) and
rectum. People with the classic type of familial adenomatous polyposis may
begin to develop multiple noncancerous (benign)
growths (polyps) in the colon as early as their
teenage years. Unless the
colon is removed, these polyps will become malignant (cancerous). The average
age at which an individual develops colon cancer in classic familial adenomatous
polyposis is 39 years. Some people have a variant of the disorder, called
attenuated familial adenomatous polyposis, in which
polyp growth is delayed. The
average age of colorectal cancer onset for attenuated familial adenomatous
polyposis is 55 years.
In people with classic familial adenomatous polyposis, the number of polyps
increases with age, and hundreds to thousands of polyps can develop in the
colon. Also of pa...
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