Family Genetic Counselors: Key Players in Pediatric Cancer Care
As many as 10 percent of pediatric cancer patients have a cancer-related gene mutation. How genetic counseling can help patients identify risks and plan treatment.
When a child is diagnosed with cancer, the issues and questions that arise can be overwhelming for parents and caregivers.
Family genetic counselors can help make sense of the chaos — and collaborate with doctors and oncologists to devise a targeted treatment strategy.
Aiding their progress is continued advancement in next-generation sequencing technology, a process that figures out the order of DNA’s building blocks. Sequencing can highlight changes in a gene that could cause disease.
Among the developments: Recent work by researchers at the University of Michigan found that identifying mutations present in tumor tissue can lead to changes in treatment recommendations.
This type of clinical sequencing can also help identify children who have hereditary syndromes that predispose them to cancer risk.
The U-M study, for example, found that 10 percent of pediatric patients with cancer who underwent sequencing were found to have a gene mutation associated with cancer risk.
A second study, from the St. Jude-Washington University Pediatric Cancer Genome Project, found that 8.5 percent of its pediatric cancer study population had a gene mutation associated with cancer risk.
Taken alone, such statistics might seem scary or complex. Which is why family genetic counselors matter.
How family genetic counseling works
Physicians and genetic counselors in the Cancer Genetics Clinic at U-M meet with patients and families to review their history and determine if genetic testing may help to clarify risks for additional cancers.
Identifying patients at risk for hereditary cancer syndromes can provide opportunities to optimize care for the existing cancer and guide proactive surveillance for survivors who may be at risk for second (or third) malignancies.
Such counseling also benefits unaffected family members who can engage in cancer-prevention strategies to improve outcomes.
Family history and beyond
Although family history of cancer is often used as a screen for hereditary syndromes, it is important to know that not all young patients with a genetic predisposition to cancer will have a family history of related cancers.
This can happen for multiple reasons, including small family size and young ages of relatives.
Nearly half of U-M study participants with germline mutations (also called a hereditary mutation) in cancer risk genes and 60 percent of patients in the St. Jude-Washington University group had no suggestive family history.
That underscores the importance of collaboration between pediatric oncology and genetics providers in looking beyond family history to recognize tumor types that suggest genetic risk.