St. Joseph’s Children’s Hospital Genetics Division has the staff and resources to provide assistance as the need arises for predisposition counseling and possible testing for breast, ovarian, colon, endometrial, pancreatic and other cancers.

Predisposition for breast, ovarian, colon, endometrial, pancreatic and other cancers

 Testing  treatments options:

• Review of personal and family histories
• Patient and family risk assessments using multiple risk-assessment models
• Review of pathology reports and specialized tumor studies
• Education of patients regarding the phenotypes of multiple hereditary cancer syndromes
• Determining appropriate genetic testing
• Counselling patients on the risks, benefits and limitations of testing
• Obtaining informed consent for genetic testing
• Obtaining insurance preauthorization and coordinating genetic testing
• Face-to-face post-test counseling
• Assisting patients in identifying and informing at-risk family members
• Recommendations to patient for personal and family cancer surveillance
• Discussing concerns about genetic discrimination by insurance companies and employers
• Written report to referring physician

FAQ:

The decision to pursue predisposition genetic testing is complex and requires highly individualized assessment. Therefore, proper risk assessment and counseling is of the utmost importance for the patient. It is a personal decision that requires much thought and consideration. Our experience and expertise are at your disposal to help you understand your options and help you make the best decision for both you and your family.

What is Cancer Genetic Counseling?

If you have questions or concerns about a personal or family history of cancer, genetic counseling can help.

Cancer genetic counseling is the obtaining of personal and family information to determine cancer risks and options for surveillance and treatment.

The genetic counselor can determine whether a person has a low or high risk for having a hereditary cancer. If a high risk exists, the counselor can answer all your questions about the benefits and limitations of genetic testing.

Hereditary Cancer Syndromes

Approximately 1 in 300 people have inherited genetic changes (mutations) that predispose them to breast, colon, endometrial (uterine) or ovarian cancer. An inherited genetic mutation is the single greatest factor in increasing an individual’s risk of developing cancer.

The American Society of Clinical Oncology (ASCO) guidelines recommend genetic counseling and possible testing for individuals at risk for hereditary cancer syndromes. Knowing an individuals risk is the first step towards prevention. There are surveillance and treatment options for those at risk. Preventative measures significantly reduce the risk of developing hereditary cancer and in certain cases may prevent it.

Who is at risk for hereditary breast and ovarian cancer?

Individuals with a personal and/or family history with the following:

• Breast cancer under the age of 50
• Ovarian cancer at any age
• Male breast cancer
• Two or more breast cancers in an individual or family member

Who is at risk for hereditary nonpolyposis colorectal cancer?

Individuals with a personal and/or family history of the following:

• Colorectal cancer under the age of 50
• Endometrial cancer under the age of 50
• Two or more HNPCC related cancers (colorectal cancer, endometrial cancer, ovarian cancer or gastric cancer) in an individual or family member

Who may be at risk for hereditary adenomous polyposis syndromes?

Individuals with a personal and/or family history of the following:

• Ten or more cumulative colorectal adenomas
• Colorectal cancer under 50 years of age

Who may be at risk for hereditary melanoma?

Individuals with a personal and/or family history of the following:

• Two or more melanomas in an individual or family member
• Melanoma and pancreatic cancer in an individual or family member

What happens during a cancer-related genetic counseling session?

The genetic counselor will review your personal medical history, as well as your family history. Be sure to be prepared with information about both your medical history, as well as any family history of cancer. You may be asked to fill out a questionnaire before your appointment.

The genetic counselor will then discuss your personal risk to have a hereditary cancer syndrome and discuss the appropriate testing process from start to finish.

The benefits and limitations of genetic testing will be discussed in detail. The counselor will address these as they pertain to you and your specific situation. The decision to pursue testing is yours alone. If you choose to pursue genetic testing, the counselor will guide you through the entire process, including obtaining insurance approval, blood draw, discussion of results and follow-up options and recommendations.

New Employee Orientation starts on the first day of hire and ends with the completion of the introductory period. During this time the new employees receive the necessary information to be successful in their various positions.

Orientation consists of both centralized and department specific training. On day one, the new employee is welcomed in a group together with others who are also starting. This full day consists of the following:

• Mission, Vision and Values
• Embracing Excellence
• Ethics, Rights and Responsibilities
• Accreditation by Det Norske Veritas (DNV)
• Infection Control
• Corporate Compliance
• Risk Management
• Overview of Policies, Performance Appraisal and Benefits

During the introductory period, the new employee will begin the process of understanding the job role and its responsibilities.

A department specific orientation is provided for each employee to assure that the knowledge and skills required to do the job successfully have been gained during this time. Following the introductory period, the employee achieves regular status.

The Neurofibromatosis Diagnostic and Treatment Program at St. Joseph’s Children’s Hospital provides care through implementation of current consensus clinical care guidelines. This program at St. Joseph’s Children’s Hospital is a Children's Tumor Foundation (CTF) affiliate clinic.

What is Neurofibromatosis?

Neurofibromatosis encompasses a set of distinct genetic disorders that can cause tumors of the nervous system. It can also affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.

Neurofibromatosis 1 (NF1)

Neurofibromatosis 1 (NF1) is the most common type of neurofibromatosis. NF1 occurs in one of every 2,500 births. It is characterized by the appearance of multiple cafe-au-lait spots and benign growths known as neurofibromas on or under the skin. Occasionally, tumors may develop on the cranial nerves, optic nerves or on the spinal cord. Changes in the bones, such as scoliosis may also occur.

Neurofibromatosis 2 (NF2)

Neurofibromatosis 2 (NF2) occurs in one of every 25,000 births. NF2 is characterized by tumors on the cranial and spinal nerves, as well as other changes in the brain and spinal cord. Tumors affecting the auditory nerves are the hallmark. Hearing loss, beginning in the teens or early twenties, is generally the first symptom.

Schwannomatosis

Schwannomatosis is a rare form of NF that has only recently been recognized and appears to affect one in every 40,000 individuals. It is less well understood and features may vary greatly between patients. The most common tumor associated with NF2 is the schwannoma, however individuals with schwannomatosis have schwannomas without the other hallmark features of NF2. A schwannoma is a tumor made of Schwann cells, which are specific types of cells that help separate and insulate nerve cells.

The NF Diagnostic and Treatment Program at St. Joseph’s

Treatment of the complex medical issues in patients with neurofibromatosis is challenging. Meeting the needs of people with these complex conditions requires the care and expertise of dedicated medical professionals who can work together, providing ongoing assessments of patients as they grow from childhood through adulthood. It is important to closely monitor each individual for the potential complications associated with these conditions.

Through a team approach the program offers optimal care to individuals and families affected by NF. In addition, patients and their families have the chance to meet other people with this condition in order to gain social and emotional support.

The program provides multidisciplinary outpatient care for children and adults with neurofibromatosis. The program offers the services of:

• Geneticists
• Ophthalmologists
• Developmental pediatricians
• Neurologists
• Orthopedists
• Audiologists
• Other necessary healthcare professionals

Services provided by the NF Center include:

• Confirmation of diagnosis
• Ongoing physical assessments
• Ophthalmologic evaluations
• Developmental assessments
• Neurological assessments
• Hearing evaluations
• Orthopedic screening
• Genetic consultation and testing
• Genetic counseling
• Patient and family education and support

The Pediatric Infectious Disease (PID) service is comprised of specialists certified by the American Board of Pediatrics in both general pediatrics and pediatric infectious diseases. The service provides inpatient and outpatient consultation to children from birth to 21 years of age. Working closely with general pediatricians, intensivists, and other specialists, we assist in the diagnosis and management of all types of acute pediatric infections such as pneumonia, meningitis and soft tissue and bone infection, including those due to Methicillin-resistant Staphylococcus Aureus (MRSA). We also provide primary inpatient care for children and adolescents admitted to the PID Inpatient Service. Additionally, we provide consultative support to children with chronic infectious disease conditions such as HIV/AIDS, Cystic Fibrosis and Tuberculosis.

Through our outpatient clinics located in Paterson and Paramus we provide consultative support for children and adolescents with concerns related to issues such as travel medicine, foreign adoption, recurrent fevers, MRSA and Lyme disease. We provide teaching and education for physicians, students, residents and nurses, regarding important topics such as appropriate use of antibiotics, resistant infections and infection control. 

The Neurogenetics and Lysosomal Storage Disease Center at St. Joseph’s Children’s Hospital provides diagnostic, evaluation, management, and treatment services for patients with neurogenetic and lysosomal storage diseases. The program participates in clinical research aimed at better understanding these conditions as well as the development and evaluation of therapies.

The program offers a comprehensive team approach to care that is broad based across many medical specialties. Our team includes multiple physicians and support staff who work closely together within a comprehensive network of pediatric and adult specialists. Our cohesive group of healthcare providers work together with the shared goal of providing outstanding personalized care for our patients.

The Neurogenetics and Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment, providing comprehensive and compassionate care for all of our patients affected by neurogenetic diseases. As one of the largest programs in New Jersey, the Neurogenetics and Lysosomal Storage Disease Center combines advanced clinical care with opportunities for participation in clinical research and patient registries.

We provide evaluations for the following diseases/conditions: 

• CADSIL
• Leukodytrophies
• Niemann-Pick disease
• Mucolipidoses
• Gaucher disease
• Fabry disease
• MPSI Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome)
• MPSII (also known as Hunter syndrome)
• MPSIV (also known as Morquio syndrome)
• MPSVI (also known as Maroteaux-Lamy)
• Pompe disease
• Hereditary spastic paraplegia
• Familial dystonia, paroxysmal dystonia
• Familial ataxias
• Familial Alzheimer's disease
• Charcot Marie Tooth disease
• Wilson’s disease
• Mitochondrial encephalomyopathies
• Genetic Epilepsy Syndrome

Testing and treatments options:

We are currently involved in enzyme replacement therapy for patients with Gaucher disease, Fabry disease, Pompe disease, Hurler syndrome, Hunter syndrome, Morquio syndrome and Maroteaux-Lamy syndrome.

The John Victor Machuga Diabetes Education & Nutrition Center at St. Joseph’s Wayne Medical Center, the most comprehensive program in the area, adheres to the Standards of Care guidelines of the American Diabetes Association (ADA). The ADA has recognized the outpatient program for Quality Self-Management Education since 2002.