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While genetic screening is not a magic bullet, it has the potential to change the landscape of childhood cancer care in India
International Childhood Cancer Day is celebrated every year on February 15.(Image: Shutterstock)
Childhood cancer remains one of the most challenging medical conditions, often striking without warning and turning families’ lives upside down. Unlike adult cancers, which are frequently linked to lifestyle and environmental factors, many childhood cancers have a genetic basis. This raises a crucial question: Can early genetic screening help detect and prevent childhood cancers before they take hold?
Understanding the Genetic Link in Childhood Cancers
Certain childhood cancers, such as retinoblastoma, neuroblastoma, Wilms’ tumor, and leukemia, have been linked to inherited genetic mutations. Some children are born with a predisposition to cancer due to mutations in genes like TP53 (Li-Fraumeni Syndrome), RB1 (Retinoblastoma), or NF1 (Neurofibromatosis), significantly increasing their risk of developing cancer.
However, most childhood cancers arise due to sporadic mutations, meaning they are not inherited but occur randomly. This makes broad-based genetic screening challenging, though not impossible.
The Case for Early Genetic Screening
Advancements in genetic testing now allow for the identification of high-risk children even before symptoms appear. Screening children with a family history of cancer or known genetic syndromes can help in:
Early Detection: Identifying genetic predispositions allows for increased surveillance and timely intervention.
Personalized Treatment: Genetic profiling can help tailor therapies that are more effective and less toxic.
Preventive Measures: In some cases, regular imaging or even preemptive surgeries (as seen in hereditary retinoblastoma) can save lives.
Genetic Risk Factors in India
According to Dr. Chandrakanth MV, Academic Head & Sr. Consultant – Medical & Haemato Oncology, BMT, Narayana Hospital, Howrah, several genetic mutations are linked to an increased risk of childhood cancers in India. While screening approaches vary based on regional cancer prevalence and healthcare infrastructure, Indian doctors commonly test for mutations such as TP53 (Li-Fraumeni Syndrome), RB1 (Retinoblastoma), NF1 (Neurofibromatosis), PTEN (Cowden Syndrome), APC (Familial Adenomatous Polyposis), and MLH1, MSH2, MSH6, PMS2 (Lynch Syndrome). Additionally, mutations such as BRAF, EGFR, ALK rearrangements, and IDH1/IDH2 are associated with pediatric tumors, including brain tumors and lymphomas. A combination of family history assessment, clinical guidelines, and multidisciplinary genetic counseling plays a crucial role in determining the need for screening.
Advancements in Genetic Screening
Dr. Chandrakanth MV also highlights that advancements in Next-Generation Sequencing (NGS), Targeted Gene Panels, and Whole Exome/Genome Sequencing are making genetic screening more cost-effective and accessible. Automated laboratory processes, AI-driven bioinformatics, and point-of-care testing are further reducing costs and expanding access, especially in remote areas. Telemedicine and public-private partnerships are also helping bridge the gap in genetic counseling and testing services. These innovations have the potential to make genetic screening a routine part of pediatric oncology care in India, ultimately leading to earlier diagnoses and better treatment outcomes.
Differences Between Childhood and Adult Cancers
According to Dr. Vivek Agarwala, Director & Consultant – Medical & Haemato Oncology, BMT, Narayana Hospital, Howrah, childhood cancers differ significantly from adult cancers in their biology, growth patterns, and treatment approaches. Certain cancers, such as neuroblastoma, Wilms’ tumor, hepatoblastoma, and retinoblastoma, occur almost exclusively in children. In contrast, leukemias, lymphomas, brain tumors, and sarcomas appear in both age groups but behave differently. Pediatric cancers tend to grow and spread more rapidly, requiring aggressive treatments, often with curative intent even at advanced stages, unlike adult cancers, where stage IV cases are usually treated palliatively. Additionally, childhood cancer treatments are carefully tailored to the patient’s age, size, and developmental stage, with specific chemotherapy dosing and radiation protocols designed to minimize long-term side effects.
Managing Treatment Side Effects in Children
Dr. Agarwala also emphasizes that chemotherapy and radiation therapy in children often lead to a range of short- and long-term side effects. Common chemotherapy-related side effects include nausea, vomiting, hair loss, fatigue, infection risk, anemia, neuropathy, and fertility issues. Radiation therapy, on the other hand, can cause skin reactions, fatigue, lung inflammation, difficulty swallowing, and, in rare cases, secondary cancers later in adulthood. Since children have a longer life expectancy post-treatment, pediatric oncologists focus heavily on managing toxicities, preserving organ function, and minimizing developmental impairments. Close monitoring and parental involvement play a crucial role in addressing side effects, ensuring children receive supportive care alongside cancer treatment.
Advancements in Childhood Cancer Treatment
Dr. Agarwala further highlights that recent breakthroughs in pediatric oncology are improving both survival rates and quality of life for young patients. Immunotherapy, including CAR-T cell therapy, checkpoint inhibitors, and cancer vaccines, has shown remarkable success in treating acute leukemias and high-grade lymphomas. Targeted therapies, such as tyrosine kinase inhibitors for leukemias and sarcomas or PARP inhibitors for brain tumors, offer more precise, less toxic treatment options. Precision medicine and genomic profiling are allowing for personalized treatment regimens, while proton beam therapy and minimally invasive surgeries are reducing treatment-related complications. Additionally, efforts to develop reduced-intensity therapies are helping mitigate long-term health risks in young survivors. These advancements collectively represent a major shift toward more effective, less harmful treatments for childhood cancers.
Challenges in Implementing Genetic Screening
Despite its promise, genetic screening for childhood cancer is not yet routine in India, and several challenges exist:
High Costs: Advanced genetic tests can be expensive, though new technologies are helping reduce costs.
Limited Awareness: Many families and even general practitioners remain unaware of genetic predispositions to childhood cancers.
Psychosocial Impact: A positive test result can lead to anxiety and ethical dilemmas for families.
A Future of Hope
While genetic screening is not a magic bullet, it has the potential to change the landscape of childhood cancer care in India. By integrating genetic testing with early diagnosis and personalized treatment plans, we can offer children a better chance at survival and a healthier future.