Role of Genetic Counseling in Pediatric Cancers: Types, Symptoms and Treatment

Role of Genetic Counseling in Pediatric Cancers

In multidisciplinary cancer care, genetic testing and counseling have become very important. The method of communication known as genetic counseling is used to explain and share facts regarding inherited disorders. Certain cancers in children are inherited, which means that a genetic mutation that exists from birth causes them to develop.

What Causes Cancer in Children?

Our genes are the instruction manual that instructs each cell in our body what to do. Cancers occur as a result of changes in one or more genes in a given cell, and because of uncontrolled and uninhibited proliferation  of cells e.g., cells in the eye or kidney or any other tissue. These changes alter normal cells into cancer cells. Such “genetic mutations” are not hereditary and cannot be transmitted to future generations.

Some genetic mutations do pass down. These are mutations in the egg or sperm cell, so they are in every cell of the child’s body and can be passed from parent to child generation after generation. If a person inherits a genetic mutation that raises the risk for cancer, that person is said to be “predisposed” to cancer. It is important to know, however, that a person who is more likely to get certain types of cancer may not necessarily develop them.

Types of Childhood Cancers:

• Osteosarcoma (Bone Cancer)
• Brain Cancers (including Brain Stem Tumors)
• DIPG (a form of Brain Stem Cancer)
• Leukemia (Cancer of the Blood)
• Hepatoblastoma (Liver Cancer)
• Lymphoma (Hodgkin’s and Non-Hodgkin’s)
• Neuroblastoma (Cancer of the Nerve Cells)
• Retinoblastoma (Eye Cancer)
• Rhabdoid Tumors
• Sarcomas (Soft Tissue Cancer)
• Spinal Cord Tumors
• Wilms Tumor (Kidney Cancer)

Signs and Symptoms of Cancer in Children

Cancer symptoms in children can often resemble those of common childhood illnesses. Most of the symptoms listed here need not be mandatorily related to cancer, but it’s important to consult your child’s doctor if they experience any of the following:

• Difficulty urinating or blood in their urine
• An unexplained lump, swelling, or firmness anywhere on the body
• Persistent abdominal pain or swelling
• Ongoing back or bone pain, or pain that disrupts sleep
• Unexplained seizures or noticeable changes in behavior and mood
• Persistent headaches
• Unusual paleness or constant fatigue
• Frequent infections or flu-like symptoms
• Unexplained vomiting
• Persistent fever  
• Difficulty breathing.                                                                                            
• Unexplained weight loss
• Changes in the appearance of the eyes or unusual reflections in photographs
• Frequent or unexplained bruising
• A rash of small red or purple spots that doesn’t fade under pressure from a glass (this may be less visible on darker skin tones).

Results of Genetic Testing

The genes linked to pediatric malignancies are more understood now than they were in the past. There are two methods of genetic testing for cancer: testing healthy cells, often from the blood, or testing cancer cells themselves. On evaluation, healthy cells may reveal if the child has a tendency that might account for the development of the condition, testing cancer cells reveals which mutations are present in a malignancy.

Confirm your child’s diagnosis 

Some predisposing mutations are associated with specific tumor types. Treatment plan would definitely be based on the type of malignancy detected.

Identify cancer targets

You might have heard about anticancer drugs known as targeted therapies. These medications work by blocking specific abnormal proteins that contribute to the growth of cancer. These abnormal proteins are created due to genetic mutations. In some cases, children’s cancers are linked to genetic mutations that produce proteins, which can be targeted by these therapies. 

Help plan future cancer screening for your child

If genetic testing reveals that your child is predisposed to certain types of cancer, they may benefit from regular screenings for those cancers. Early detection through screening can make treatment more effective. For instance, a regular mammography scans for predisposed group, periodic ultrasonography for other respective tumors.

Prompt genetic testing and cancer screening in family members

If testing reveals that your child has an inherited genetic mutation, it’s possible that you and other family members may carry it as well.

Help with planning your family

Some parents who learn that their child has a genetic mutation linked to a higher cancer risk may wonder about the possibility of passing the mutation to future children. Proper guidance would help in informed decision making.

Genetic Counselors

These healthcare professionals are specially trained to evaluate your child’s diagnosis and family history. Genetic counselors assist patients in understanding their risk of having a genetic condition, including cancer, and provide guidance on screening strategies for early detection. They also assess the risk of hereditary cancer syndromes for family members. Additionally, they help oncologists interpret genetic test results to determine which treatments might be most effective. Their role includes gathering family and medical history, conducting risk assessments, ordering and explaining genetic test results, and offering psychosocial support to patients.

Importance of genetic counseling

It is recommended that children and their parents or guardians meet with a genetic counselor or a qualified professional before undergoing germline cancer genetic testing. Cancer genetic counseling aims to help families understand testing options, ensure the most appropriate tests are ordered, support informed decision-making, and prepare families for the potential outcomes of testing.

The practice of involving children in discussions about their treatment and prognosis has extended to including them in age-appropriate pretest counseling conversations. For older children and adolescents, obtaining verbal or written assent ensures they have a say in the decision-making process, provides an opportunity to address their fears or misconceptions, and helps them prepare to receive their test results.

Although there may be concerns about increasing anxiety for parents and patients, genetic counseling has been shown to reduce fears and empower families. By offering accurate risk information and potential options for proactive risk reduction or early detection, counseling provides families with a sense of control and preparedness if a gene mutation is identified.

Conclusion

Identifying children and adolescents at risk for hereditary cancer syndromes creates opportunities to optimize cancer treatment and long-term surveillance.  Genetic counseling services in the pediatric oncology team can increase patient identification, reduce barriers to services and enhance patient-centered care.

References

https://pubmed.ncbi.nlm.nih.gov/31294517/

https://www.cancer.org.au/cancer-information/types-of-cancer/childhood-cancers/types-of-childrens-cancers

https://www.acco.org/types-of-childhood-cancer/

https://www.cancer.gov/types/childhood-cancers/child-adolescent-cancers-fact-sheet