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Genomic Sciences and Precision Medicine Center (GSPMC)

Clinical Specialties

General Genetics

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What is Adult Genetics Clinic?
The Adult Genetics clinic specializes in evaluating known genetic conditions, where the disease in question is clearly understood to be an inherited disorder. We also will evaluate other conditions where a genetic component is suspected, even if it has not been proven or is only suggested based on family history.

Who should make an appointment in the Adult Genetics Clinic?
Individuals who are over age 18 and have a known or suspected genetic disorder that need a physical evaluation by a medical geneticist. During the genetics visit, the patient may meet with both a genetic counselor and a medical geneticist. The genetic counselor will obtain a detailed family history and provide risk assessment about potential genetic disorders. Sometimes the geneticist will perform a physical exam, and discuss laboratory testing as needed.

What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage for genetic counseling services is expected. Our patients rarely encounter problems with insurance coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors, we always suggest you call our program at (414) 955-5899.

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.
Forms
Please complete this form to the best of your ability. The information you provide will allow us to construct a family tree and perform cancer risk assessment. Please include all blood related family members, living and deceased who have had cancer and who have not. Provide as much information as possible on the types of cancer, ages when the cancers were diagnosed, and the treatment completed for cancer. In addition, please make note of any bilateral cancer (i.e. separate, primary breast cancers in both breasts).

Prenatal Genetic Counseling

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What is "prenatal genetic counseling"?
Patients who are pregnant or planning a pregnancy and have general questions about current and new trends in testing options for common chromosome abnormalities or birth defects can receive a personalized risk assessment. Questions about available non-invasive screening and diagnostic tests will also be answered by a prenatal genetic counselor. In the event of a known risk factor or pregnancy complication, such as advanced maternal age, an abnormal ultrasound, or a family history of a genetic disorder, prenatal genetic counseling can help patients interpret those risks into practical information to help with decision-making about testing options and pregnancy management.

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.
Who should see a prenatal genetic counselor?
  • 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
What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage for genetic counseling services is expected. Our patients rarely encounter problems with insurance coverage. If you have specific questions regarding insurance coverage of a scheduled appointment with one of our prenatal genetic counselors, we always suggest you call our front desk at (414) 805-6624.

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

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What is "cancer genetics"?
The primary goal of cancer genetic counseling is to identify individuals and families at increased risk of cancer due to an inherited predisposition so appropriate cancer prevention, early detection, and awareness in these families can be facilitated.

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.
Who should see a cancer genetic counselor?
  • 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
What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage should not be an issue for you. Our patients rarely have issues will coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors we always suggest you call our front desk at (414) 805-0572.

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.
Forms
Please complete this form to the best of your ability. The information you provide will allow us to construct a family tree and perform cancer risk assessment. Please include all blood related family members, living and deceased who have had cancer and who have not. Provide as much information as possible on the types of cancer, ages when the cancers were diagnosed, and the treatment completed for cancer. In addition, please make note of any bilateral cancer (i.e. separate, primary breast cancers in both breasts).

Cardiac Genetics

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What is "cardiovascular genetics"?
Cardiovascular genetic counseling aims to help physicians patients understand inherited cardiovascular conditions, identify individuals and families at risk, and interpret complex genetic concepts into practical information. By identifying patients at increased risk for cardiovascular conditions due to an inherited predisposition, genetic counselors work collaboratively with a team of cardiologists and other specialists to create individual treatment plans in an effort to promote appropriate screening, early detection, and wellness.

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.
Who should see a cardiovascular genetic counselor?
  • 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
What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage for genetic counseling services is expected. Our patients rarely encounter problems with insurance coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors, we always suggest you call our program at (414) 955-5899.

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.
Forms
Prior to your visit, please complete this form to the best of your ability. If you cannot complete the form, you do not need to cancel your appointment. The genetic counselor can review this information with you during your appointment. The information from this form allows the genetic counselor to interpret your medical and family histories and complete a cardiovascular risk assessment during your appointment. Please include all living and deceased blood-related family members, especially those who have had cardiovascular disease.

Endocrine Genetics

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What is the "Endocrine System"?

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.

Who should see an endocrine genetic counselor?
  • 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
What will happen at the appointment?
  • 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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage should not be an issue for you. Our patients rarely have issues will coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors we always suggest you call our main information line at (414) 805-0572.

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.
Forms
Please complete this form to the best of your ability. The information you provide will allow us to construct a family tree and perform cancer risk assessment. Please include all blood related family members, living and deceased who have had cancer and who have not. Provide as much information as possible on the types of cancer, ages when the cancers were diagnosed, and the treatment completed for cancer. In addition, please make note of any bilateral cancer (i.e. separate, primary breast cancers in both breasts).

Hereditary Hemorrhagic Telangiectasia Genetic Counseling

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What is Hereditary Hemorrhagic Telangiectasia (HHT) genetic counseling?
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a disorder that results in the development of abnormal vascular structures (blood vessels). These abnormal structures typically involve telangiectases (small dilated blood vessels) or arteriovenous malformations (AVMs), which can develop where veins and arteries directly connect without capillaries as intersecting pathways. Telangiectases and AVMs can lead to rupture, hemorrhage (bleeding), abscess, or stroke.

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.
Who should see a genetic counselor about HHT?

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
What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage for genetic counseling services is expected. Our patients rarely encounter problems with insurance coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors, we always suggest you call our program at (414) 805-0572.

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.
Form
Prior to your visit, please complete this form to the best of your ability. If you cannot complete the form, you do not need to cancel your appointment. The genetic counselor can review this information with you during your appointment. The information from this form allows the genetic counselor to interpret your medical and family histories and complete a Hereditary Hemorrhagic Telangiectasia risk assessment during your appointment. Please include all living and deceased blood-related family members, especially those who have had telangiectases, AVMs, bleeding or stroke.

Neurogenetic Counseling

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What is "neurogenetic counseling"?
Neurogenetic counseling aims to help patients understand inherited neurological conditions, identify individuals and families at risk, and interpret complex genetic concepts into practical information. By identifying patients with an inherited predisposition to a neurological condition, genetic counselors work collaboratively with a team of neurologists and other specialists to aid in the diagnosis, management, and care planning.

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.
Who should see a neurogenetic counselor?

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
What will happen at the appointment?

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
Will my insurance cover this?
An appointment with a genetic counselor is treated like any other visit with a health care provider. These visits are billable to your insurance company. Genetic counselors bill for their services under a supervising physician at Froedtert and the Medical College of Wisconsin. If your insurance company allows for coverage of visits with physicians at Froedtert and the Medical College of Wisconsin, coverage for genetic counseling services is expected. Our patients rarely encounter problems with insurance coverage. If you have specific questions regarding coverage of a scheduled appointment with one of our genetic counselors, we always suggest you call our program at (414) 955-5899.

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.