Based at the National Children’s Cancer Service (NCCS), at Children’s Health Ireland (CHI) in Crumlin, Dr. Cullinan was recently awarded funding through the Irish Cancer Society. This funding has facilitated her appointment as a Consultant Paediatric Oncologist with a Special Interest in Cancer Genetics. The overarching goal of this appointment is the development of a dedicated cancer genetics programme for paediatric oncology patients, based at the NCCS. We touched base with Dr. Cullinan to find out what has been happening since her appointment in January 2022.

Dr. Cullinan first reminded us that at least 10% of children with cancer have an underlying cancer predisposition syndrome, meaning that they have a genetic predisposition to developing cancer. “Recognition and diagnosis of an underlying cancer predisposition syndrome in a child with cancer has implications for treatment and disease surveillance for affected patients, and has potential implications, also, for family members who may carry the same genetic variant,” she says.

Since her appointment, significant progress has been made in establishing and developing a dedicated cancer genetics service for children, working closely with haematology, oncology, and clinical genetics health professionals. “I am now accepting referrals from my colleagues in the Department of Clinical Genetics for children with a confirmed cancer predisposition syndrome who are anticipated to have a high risk of developing cancer in childhood. Once a referral has been received, children with a confirmed cancer predisposition syndrome are now being invited to attend a dedicated clinic for clinical evaluation and disease surveillance, following evidence-based international recommendations,” Dr. Cullinan explains.

She has also established a dedicated paediatric cancer genetics multidisciplinary team (MDT) meeting within the NCCS, based at CHI, Crumlin. This MDT meeting brings together haematology, oncology and clinical genetics health professionals, as well as laboratory and nursing staff, to discuss children who are suspected of having a cancer predisposition syndrome. Through this initiative, paediatric patients are now being prioritised for genetic counselling and testing, where this is considered appropriate.

Once genetic testing results become available, cases are then discussed again. Where appropriate, onward referral is facilitated to the clinical genetics service, where genetic testing is extended to family members who are at risk of also sharing the identified hereditary condition. A consult service is also being provided, with referrals accepted from Dr. Cullinan’s haematology/oncology colleagues to assess children with cancer suspected of having a cancer predisposition syndrome. This ensures that children with newly diagnosed cancer are prioritised for evaluation and discussion at this newly established paediatric cancer genetics MDT meeting.

What is next for the project?  “Additional goals in the next 12 months include the development of evidence-based paediatric referral criteria for children with cancer who require genetic evaluation and the development of information leaflets for patients and families with a cancer predisposition syndrome,” she says. “Another goal is the engagement of patients and families in qualitative and quantitative research to ensure the developing service is meeting the needs of patients and families.”