Dynacare Genetic Research: Children with Eye Cancer - Some Relief for Families

A form of childhood eye cancer called Retinoblastoma (RB) can occur by chance or it can be hereditary. Typically caused by alterations in the RB1 gene, RB is usually diagnosed in children under the age of five.

Dynacare geneticists Dr. Hilary Racher, Director of Scientific and Laboratory Operations, and Jaime Jessen, Genetic Counsellor, conducted cancer diagnostic genetic testing on children with the disease and, along with decades of genetic testing data, they were able to detect that approximately 1.5% of RB cases are caused not by the RB1 gene (which can be related to hereditary cancer), but by the amplification of the MYCN gene which is known to occur by chance.

Characteristics that can provide some relief
While no cancer diagnosis is welcome, there are some characteristics of a non-hereditary MYCN amplified RB diagnosis that provide some relief:

1. Physically, it eliminates the risk of additional eye retinoblastoma tumours including in the second eye as well as other RB-associated secondary cancers. This greatly reduces the child’s exposure to examinations under anesthetic, which can have potential adverse neurological effects.
2. Financially, it alleviates future costly invasive and non-invasive screening and testing, as well as travel and out-of-pocket costs for the family.
3. Psychologically, it eliminates the anxiety and stress families endure when there is risk for new ocular tumours and later second tumours, as well as familial stress with potential risk to other family members.

Finding shared at the 2024 American College of Medical Genetics Annual Clinical Meeting
Dr. Racher and Ms. Jessen shared this finding at the 2024 American College of Medical Genetics Annual Clinical Meeting in Toronto with a poster presentation. This method of scientific knowledge sharing takes place in a large room filled with diverse research posters and provides meeting participants with the opportunity to view and ask questions directly to the researchers.

Collaborators
This retrospective review of clinical data used in the research was performed in collaboration with Dr. Katherine Paton from the BC Childrens Hospital (Vancouver), Ms. Rose Venier, Dr. Yiming Wang, and Dr. Ashwin Mallipatna from The Hospital for Sick Children (Toronto), and Dr. Arpana Ramasubramanian from Childrens Hospital of Wisconsin (Milwaukee) and focused on RB cancer genetics and the implication on therapeutics and residual disease risk to the patient and their families.

Dynacare commitment to health solutions
Dynacare is committed to bringing health solutions to Canadians as a medical diagnostic testing company and, as such, it is invested in advancing clinical knowledge and expertise. Genetic testing at Dynacare contributes to the health and wellbeing of families confronted with RB as well as the Canadian healthcare system that strives to support them.

Dynacare cancer screenings
Dynacare offers a variety of cancer screenings, including Retinoblastoma, to help healthcare providers diagnose or rule out specific genetic or chromosomal conditions.

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