Cancer genetic counseling


Every year, genetics research scientists learn more about mutations in genes that are linked to certain cancers and increase a person's risk for getting those cancers.

Certain individuals can benefit from genetic counseling, including:

  • A person who had cancer diagnosed at an early age (such as breast cancer before age 45 or colon cancer before age 50), or had a close family member diagnosed with cancer at an early age.
  • A person with two or more close family members diagnosed with the same cancer or related cancers such as breast and ovarian or colon and uterine.
  • A person with more than one cancer or a close family member with more than one cancer.
  • A person from a family known to have inherited cancer syndrome.
  • Certain ethnic groups (such as Ashkenazi Jewish) if the person or close family members had breast cancer.
  • A person diagnosed with a rare cancer, for example, male breast cancer or medullary thyroid cancer.

Consulting with experts in cancer genetics is the best way to obtain the most comprehensive evaluation and the latest information about the risk for hereditary cancer.

While it is important for the patient to understand that if they have a family history of cancer, it doesn't mean the individual will necessarily have an increased risk of developing cancer. There are many factors that influence cancer development.

Our approach

Patients must be referred by a Northwell Health Cancer Institute physician for evaluation to participate in genetic counseling and testing services.

Genetic specialists at the Center for Cancer Genetics and Cancer Control offer the most advanced genetic testing procedures to detect inherited factors and gene mutations that increase the risk for developing certain types of cancers, such as:

  • Breast and ovarian cancers
  • Colorectal cancer
  • Renal (kidney) cancer
  • Endocrine cancer, including thyroid and pancreatic cancers
  • Skin cancers, including melanoma
  • Gynecological cancers

The genetic counseling process

Step 1: Genetic Counseling Preliminary Meeting

A patient will meet with one of the cancer genetic counselors, who will evaluate personal and family health history, determine the risks for inherited cancer and help the patient decide whether testing will be useful. During this preliminary meeting, the genetic counselor will provide the patient with an individualized and detailed discussion of the option for genetic testing and recommendations for preventive screening and treatments.

Step 2: Genetic Testing and Diagnosis

The genetic counselor will schedule a genetic test, which is normally a simple blood test. Genetic specialists in specialized laboratories will evaluate the test results and confirm the presence or absence of the gene mutations.

Genetics specialists at the Northwell Health Cancer Institute's Center for Cancer Genetics and Cancer Control use the most updated information in cancer genetics to offer testing for inherited factors that increase your risk for developing certain types of cancer.

Genetic testing can identify hereditary gene mutations for many cancers and conditions linked to cancers. Among those tested at the center are:

  • Colorectal cancer genetic testing - The Centers for Disease Control (CDC) report that about three percent of colorectal cancer cases are due to an inherited condition known as Lynch syndrome. Genetic testing for the diagnosis of Lynch syndrome can determine if you have an increased risk for developing colorectal and uterine cancer.
  • Breast cancer and ovarian cancer genetic diagnosis and testing - Cancer genetic testing can help men and women determine if they are at greater risk for developing breast cancer because of certain inherited gene mutations in the BRCA1 and BRCA2 genes. According to the National Institutes of Health (NIH), women with these gene mutations have a higher risk of also developing ovarian cancer and other types of cancer during their lifetime.
  • Genetic testing and diagnosis for conditions linked to renal (kidney) cancer - If any of a patient’s family members (blood relatives) have or had kidney cancer, especially at a younger age, or if the patient has been diagnosed with an inherited condition linked to this cancer such as von Hippel-Lindau disease, a doctor may suggest that the patient has genetic testing to see if they have those specific genetic mutations.
  • Lynch syndrome genetic diagnosis and testing - Lynch syndrome (LS) is an inherited disorder that increases the risk of many types of cancer, particularly colorectal cancer. People with LS also have an increased risk of cancers of the stomach, small intestine, gall bladder ducts, upper urinary tract, brain and skin. Women with the syndrome have a high risk of ovarian or endometrial cancer. LS genetic testing may be recommended by a physician, especially if a family member has been diagnosed with the disorder. 
  • Thyroid cancer genetic diagnosis and testing - Genetic testing is available for several genetic mutations associated with an increased risk of certain types of thyroid cancer. They are papillary and follicular thyroid cancer (90% of thyroid cancers are this type), medullary thyroid cancer (MTC) and familial medullary thyroid cancer (FMTC).
  • Skin cancer genetic diagnosis and testing - Genetic testing for melanoma, the deadliest form of skin cancer, looks for mutations on the CDKN2A gene. Having a mutation in this gene dramatically increases a person's lifetime risk of developing melanoma. Since mutations in the CDKN2A gene are very rare, dermatologists typically recommend genetic testing only in patients who also have other select risk factors.

Step 3: Genetic Counseling Follow-up Meeting

After genetic testing is completed, the patient will meet again with the genetic counselor to talk about the test results and their implications.

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