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Pictured from left, the genetic counseling team includes Passant Shaker, Alise Blake, Emily Bonkowski, Rose McGee, Arti Pandey, Sara Lewis and LilyAnne Grieve.

Genetic counselors: Putting together the pieces

Like assembling an intricate puzzle, St. Jude genetic counselors piece together information about a patient’s family tree, medical history and physical features to determine a patient’s likelihood of having a predisposition to cancer, or a hematologic or neurological disorder.

The hospital’s seven licensed genetic counselors spend much of their time examining the past, but their work has a potentially widespread impact on the future of treatment and care.

Genetic counselors analyze information and explore the questions about which genes could explain a patient’s personal and family history of cancer. They share options for genetic testing and help families think about the impact of testing on the patient and the family. Genetic counselors also participate in research.

Approximately 5 to 15% percent of children with cancer carry a change in a cancer predisposing gene. By identifying these gene changes, clinicians and researchers can learn more about why tumors form and the best methods of treating them. This information is also critical as it informs screening for future cancers and guides genetic counseling and testing of other family members.

In 2014, Kim Nichols, MD, came to St. Jude to launch and direct the Cancer Predisposition Division to expand clinical and research efforts, identify children with hereditary forms of cancer and coordinate their treatment. Genetic counselors serve as the gateway for these efforts through initial consultations with patients and families. All new oncology patients at St. Jude are offered the option of a consultation. Consultations are also available to patients from the St. Jude affiliates.

Genetic counselors include Alise Blake, Emily Bonkowski, LilyAnne Grieve, Sara Lewis, Rose McGee, Arti Pandey and Passant Shaker.

Counselors focus on the whole family, working with patients, siblings and parents to determine if testing is needed and what risks and benefits are involved. There are several different tests ranging from karyotypes to DNA sequencing, many of which are conducted at St. Jude. After testing, counselors review and explain the results to families. They also help families obtain appropriate medical care and provide mental, emotional, social and spiritual support when a genetic diagnosis is made. Counselors collaborate with clinical staff members and are widely involved in the institution’s various clinical and research genomics efforts. 

As genetic testing opportunities expand and technology develops, genetic counselors will continue to play an important role in finding the underlying causes of cancer and other diseases in families.

The National Society of Genetic Counselors recognizes the second Thursday in November as Genetic Counselor Awareness Day.  

How genetic counselors help

  • Discuss information on specific conditions that can increase the risk for cancer or hematologic disease
  • Provide genetic counseling
  • When needed, arrange genetic testing
  • Review and explain genetic test results
  • Explore family histories to determine risks for other family members
  • Explain what cancer screening tests are available
  • Assist with setting up cancer screening tests
  • Share the results of cancer screening tests
  • Collaborate with other members of the care team to help guide cancer treatment
  • Offer information about taking part in research
  • Help families find mental, emotional, social and spiritual support
 

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