Last 21 September 2020, the Institute of Human Genetics-National Institutes of Health (IHG-NIH) held the 4th cancer telegenetics webinar entitled, “Unlocking the Genetic Key to Retinoblastoma: Saving Lives and Saving Sight”. A panel of experts gave their insights on the diagnosis, management, and genetics of retinoblastoma and the value of genetic counseling for these cases. They were Dr. Gary John Mercado, an ophthalmologist; Dr. Ana Patricia Alcasabas, a pediatric oncologist; and Dr. Ma-Am Joy Tumulak, a genetic counselor.

This webinar emphasized that retinoblastoma (RB) is the most common intraocular malignancy in children. The earliest sign of this disease is leucocoria, or “white pupil”. Recognition of those with a hereditary RB1 gene mutation is important because they have a greater risk for secondary cancers such as osteosarcoma, soft tissue sarcoma, epithelial cancers, and melanoma which significantly increases as the patients age. The speakers also emphasized that RB is potentially fatal, but 90% can be cured by early detection. Awareness of the disease is crucial in saving a life and saving the vision.

Telegenetics as a modality in providing genetic risk assessment and genetic counseling services given the current pandemic situation was reiterated. It was further emphasized that oncology physicians, nurses, and other health care providers have the essential role to identify red flags in patients; to provide patients and their families an opportunity to seek genetic counseling; and to engage in earlier screening and surveillance along with other interventions that would lead to better outcomes. 

There were 120 attendees, mostly physicians, nurses, and other health workers with a few lay persons. The webinar was sponsored by the Clinical Genetics and Genomics Counseling Care Services Inc., a group of medical geneticists and genetic counselors in the Philippines. The group was formed to support individuals and families in navigating the complexities of genetic and genomic testing methodologies and to translate relevant genetic information necessary for their care. For further information about their services, please feel free to visit their website: cggccs.com or send an email to: info@cggccs.com.

Dr. Ma-Am Joy Tumulak | Published in Healthscape Special COVID-19 Issue No. 17