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Pediatric Genetics

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 individual’s 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.

St. Joseph’s Children’s Hospital pediatric geneticists provide comprehensive care to families of children with known genetic or suspected genetic disorders.

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.

Testing treatment 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

Frequently Asked Questions

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.

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.

Contact Us

St. Joseph’s Children’s Hospital
11 Getty Avenue
Paterson, NJ 07503
973-754-2727