Clinical Specialties
General Genetics
An appointment with the genetic counselor and/or geneticist typically involves:
- Reviewing a detailed personal medical history and family medical history called a "genetic pedigree"
- Assessing the patient’s risk of having an inherited disorder, discussing the cause, symptoms, inheritance pattern, and risk to other relatives
- Discussing the benefits, risks, and limitations of genetic testing including insurance coverage
- Reviewing appropriate screening recommendations and medical management options with or without genetic testing
- Providing appropriate support, counseling, and long term resources to patients and families when an inherited condition is identified
Insurance coverage and pre-authorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit, and insurance coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing, and genetic counselors are very familiar with the billing process.
Questions about insurance discrimination? Please visit the NIH Genetic Information Nondiscrimination Act informational page.
Prenatal Genetic Counseling
Prenatal genetic counselors work together with Maternal Fetal Medicine specialists, geneticists, and other specialties to help patients and their primary care providers create the best plan of care.
- Women or couples who are seeking information about genetic testing options and recommendations during pregnancy
- Women who will be age 35 or older at the time of delivery during a singleton pregnancy
- Women who will be age 33 or older at the time of delivery during a multifetal pregnancy
- Pregnant women who have had an abnormal ultrasound or blood test indicating an increased risk for genetic complications or birth defects.
- Women or couples who have had a previous child or a family member with a birth defect, cognitive disability, or a genetic disorder
- Women or couples who have had a previous stillbirth or a baby who died shortly after birth
- Women or couples who have had multiple miscarriages or infertility
- Pregnant women who have been exposed to environmental risk factors such as medications, illicit drugs, infections, or radiation
- Couples who are first cousins or close blood relatives
- Couples who are at risk for certain genetic conditions based on their ancestry or ethnic background, including African-American, French-Canadian, Jewish, Mediterranean or Asian backgrounds among others
An appointment with the genetic counselor typically involves:
- Reviewing the pregnancy history, medical history, and family history of the patient in addition to the medical history and family history of her partner
- Discussing potential risks for the current pregnancy and/or future pregnancies based on these histories
- Discussing the indications, benefits, risks, and limitations of prenatal genetic testing options including screening tests (i.e. first trimester screening, maternal serum quad screening, non-invasive fetal DNA testing, ancestry-based carrier screening) and diagnostic tests (i.e. chorionic villus sampling, amniocentesis).
- In the event of an abnormal test result or other relevant pregnancy complication; interpreting the finding, reviewing further testing options, discussing implications for pregnancy management and prognostic expectations
- Providing counseling and support to patients and couples when a high-risk pregnancy is identified or a prenatal genetic diagnosis is made
Insurance coverage and pre-authorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit, and insurance coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing, and genetic counselors are very familiar with the billing process.
Questions about insurance discrimination? Please visit the NIH Genetic Information Nondiscrimination Act informational page.
Cancer Genetic Counseling
There are many known genes that can cause inherited forms of cancer if an individual has a mutated form of a particular gene. Some families have mutations that can cause hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes, while others may have hereditary colon cancer due to a mutation in one of the genes that causes Hereditary Non Polyposis Colorectal Cancer (HNPCC or Lynch syndrome). Identification of these inherited cancer syndromes in a family allow for targeting at-risk individuals for the most appropriate medical management.
- Cancer diagnosed at an unusually young age (e.g. breast or colon cancer before age 50)
- Multiple close family members with the same type of cancer or related cancers (e.g. breast and ovarian cancer, colon and uterine cancer)
- Two or more primary cancer diagnoses in the same individual (e.g. breast cancer in both breasts, breast and ovarian cancer)
- Rare cancers or unusual tumors at any age (e.g. medullary thyroid cancer, retinoblastoma, hepatoblastoma, male breast cancer, adrenal cortical carcinoma, pheochromocytoma and paraganglioma)
- Presence of other features associated with an inherited cancer syndrome (e.g. multiple colon polyps)
- Members of a family with a known hereditary cancer syndrome
- Individuals considering genetic testing for cancer risk
- Individuals with questions about cancer risk in family members
- Individuals with heightened risk based on family history or known gene mutation who have questions about cancer screening, prevention or treatment
An appointment with the genetic counselor will typically involve:
- Collect a detailed cancer-focused personal and family medical history called a "genetic pedigree"
- Assess the individuals risk of developing cancer based on the collected information
- Determine whether or not the history is suggestive of an inherited cancer syndrome
- Discuss the risks, benefits, and limitations of genetic testing including insurance coverage
- Review medical management options with or without genetic testing
- Provide psychosocial support to patients and families, and facilitate communication between patients and their families regarding risk information and recommendations
Insurance coverage and preauthorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit and coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing and genetic counselors are very familiar with the proper authorizations and documents required for billing of these tests.
Questions about insurance discrimination? Please visit the NIH Genetic Information Nondiscrimination Act informational page.
Cardiac Genetics
Just as we have discovered the inherited cause of certain types of cancer and other illnesses, we know there are genes that can cause inherited forms of cardiovascular disease, such as arrhythmia (abnormal heart rhythm), cardiomyopathy (enlarged heart), high cholesterol, or sudden death from heart attack or stroke. By identifying the genetic basis of cardiovascular disease within a family, we can help patients and their relatives develop appropriate plans of care.
- Personal or family history of arrhythmia (abnormal heart rhythm), syncope (fainting), chest palpitations, or cardiomyopathy (enlarged heart)
- Personal or family history of aneurysm or other complications involving the aorta and blood vessels
- Personal or family history of muscular dystrophy or a connective tissue disorder, such as Marfan syndrome
- Personal or family history of congenital heart disease (heart defect at birth)
- Family history of sudden death due to heart attack or stroke in a close relative
- Family history of a known inherited cardiovascular syndrome or disorder
- Multiple close relatives on the same side of the family with heart disease, stroke, coronary artery disease, high cholesterol, or high blood pressure at any age
- Individuals with an elevated risk for cardiovascular conditions based on family history or a positive genetic test
An appointment with the genetic counselor typically involves:
- Reviewing a detailed personal medical history and family medical history called a "genetic pedigree"
- Assessing the patient’s risk of developing certain cardiovascular conditions or having inherited a cardiovascular syndrome based on this collected information
- When an inherited cardiovascular syndrome is suspected, reviewing the cause, symptoms, inheritance pattern, and risk to other relatives
- Discussing the benefits, risks, and limitations of genetic testing including insurance coverage
- Reviewing appropriate screening recommendations and medical management options with or without genetic testing
- Providing appropriate support, counseling, and long term resources to patients and families when an inherited condition is identified
Insurance coverage and pre-authorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit, and insurance coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing, and genetic counselors are very familiar with billing process.
Questions about insurance discrimination? Please visit the NIH Genetic Information Nondiscrimination Act informational page.
Endocrine Genetics
The body’s endocrine system is composed of glands and hormones. The endocrine glands are a group of small organs and body tissues that produce, store and secrete hormones. The major organs of the endocrine system are:
- Adrenal glands
- Ovaries / Testes
- Pancreas
- Thyroid gland
- Hypothalamus
- Parathyroid glands
- Pituitary gland
Hormones are chemical substances that control and regulate various body functions. The endocrine glands release hormones into the bloodstream, where they have an effect on specific target tissues. Hormones play a vital role in metabolism, growth and development, digestion, sexual function, reproduction and other body functions. They also affect mood. While men and women have the same hormones, the levels of certain hormones are different.
Hormones are powerful; a tiny amount can cause big changes in cells or even the whole body, and too much or too little of a certain hormone can cause serious health problems. Endocrine diseases can be complex and involve many body systems and structures.
- Multigland primary hyperparathyroidism diagnosed at any age
- Primary hyperparathyroidism diagnosed <40y
- Pituitary tumor and hyperparathyroidism in the same person
- Multifocal pancreatic neuroendocrine/islet cell tumors
- Medullary thyroid cancer (any age)
- Pheochromocytoma diagnosed <50y
- Malignant or multiple pheochromocytomas diagnosed at any age
- Paragangliomas diagnosed at any age
- Adrenocortical carcinoma diagnosed <36y
- Parathyroid carcinoma (if young onset or family history of hyperparathyroidism)
- Other indications as determined by your physician
- Collect a detailed endocrine-focused personal and family medical history called a "genetic pedigree"
- Determine whether or not the history is suggestive of an inherited cancer syndrome
- Discuss the risks, benefits, and limitations of genetic testing including insurance coverage
- Review medical management options with or without genetic testing
- Provide psychosocial support to patients and families, and facilitate communication between patients and their families regarding risk information and recommendations
Insurance coverage and preauthorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient's visit and coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing and genetic counselors are very familiar with the proper authorizations and documents required for billing of these tests.
Hereditary Hemorrhagic Telangiectasia Genetic Counseling
Targeting both men and women equally, HHT affects approximately 1 in every 5,000 individuals. It is an inherited in an autosomal dominant pattern and therefore HHT can be passed on from parent to child. Genetic counseling aims to help physicians and their patients understand hereditary conditions. By identifying individuals with HHT or those who are at risk, the genetic counselor works collaboratively with a team of specialists to clarify the genetic basis of this disorder within the family and to develop an appropriate screening and treatment plan.
Personal or family history of telangiectases within the following organs:
- Colon (resulting in gastrointestinal bleeding, black or bloody stool, or anemia)
- Nose (resulting in recurrent spontaneous nosebleeds)
- Mouth, lips, tongue
- Skin and hands
Personal or family history of arteriovenous malformations (AVMs) within the following organs:
- Lung
- Brain
- Liver
- Colon
- Pancreas
- Spine
An appointment with the genetic counselor typically involves:
- Reviewing a detailed personal medical history and family medical history called a "genetic pedigree"
- Assessing the patient’s risk of having inherited HHT and discussing the cause, symptoms, inheritance pattern, and risk to other relatives
- Discussing the benefits, risks, and limitations of genetic testing including insurance coverage
- Reviewing appropriate screening recommendations and medical management options with or without genetic testing
- Providing appropriate support, counseling, and long term resources to patients and families when an inherited condition is identified
Insurance coverage and pre-authorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit, and insurance coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing, and genetic counselors are very familiar with the billing process.
Neurogenetic Counseling
Just as we have discovered the inherited cause of certain types of cancer and other illnesses, we know there are genes that can cause inherited forms of neurological disease, such as movement disorders (like Ataxia or Huntington’s disease), epilepsy, or muscular dystrophies. By identifying the genetic basis of neurological disease within a family, we may help patients and their relatives develop a better understanding of the condition, aid in appropriate preparations for care, and help with family planning decisions.
Anyone with a family or personal history of the following:
- Huntington’s disease
- Muscular Dystrophies
- Familial Ataxias
- Familial Epilepsy
- Hereditary Spastic Paraplegia
- Familial Amyotrophic Lateral Sclerosis
- Familial Dystonia
- CADASIL
- Charcot-Marie-Tooth disease
- Individuals with multiple hemangioblastomas of the brain and/or spinal cord
An appointment with the genetic counselor typically involves:
- Collect a detailed focused personal and family medical history called a "genetic pedigree"
- Determine whether or not the history is suggestive of an inherited neurologic syndrome
- Discuss the risks, benefits, and limitations of genetic testing including insurance coverage
- Review medical management options with or without genetic testing
- Facilitate communication between patients and their families regarding risk information and recommendations
- Discuss reproductive risks and options
Insurance coverage and pre-authorization of genetic testing is best discussed with the genetic counselor during the scheduled appointment. There is no need for the patient or referring physician to pre-authorize genetic tests prior to the visit with the genetic counselor. The genetic counselor will determine which genetic test may be appropriate during the patient’s visit, and insurance coverage and pre-authorization will be discussed at that time. Genetic testing is specialized testing, and genetic counselors are very familiar with the billing process.
Questions about insurance discrimination? Please visit the NIH Genetic Information Nondiscrimination Act informational page.