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Clinical activities

Referrals - The Cancer Genetics Program at SickKids now receives more than 190 new referrals each year. This number has significantly increased over the past nine years thanks to increased awareness of the program among health care professionals and the eagerness of parents to participate in accompanying research studies. To date, we have consulted on >1200 families.

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Seventy percent of our referrals are from Ontario, with the remainder referred from across Canada and around the world. Intensive genetic counselling has been provided to all of these families.

Based on their family cancer histories, 40 per cent have undergone genetic testing. Identification of a detectable gene mutation in approximately one-third of these has led us to the development and institution of surveillance protocols to detect cancers early. These at-risk individuals are followed by their primary care physician, oncologist, paediatrician or paediatric oncologists. Surveillance strategies for Li-Fraumeni Syndrome have been published.

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Clinical Testing – Currently available at SickKids for p53 gene sequencing and MPLA. We are currently exploring funding opportunities to develop sequence analysis for other genes including WT1 (for Wilms tumor), RET (for multiple endocrine neoplasia), FANCA-M (for Fanconi anemia) and other clinically relevant genes.

Resource Expansion - With the expansion of the Cancer Genetics Program and laboratory research capabilities, we anticipate an increase in referrals to ~300 per year within two years which will be maintained at that rate consistently for years to come. As more genes are discovered, we anticipate a progressive increase in the proportion of families who will be offered and avail themselves of genetic testing. To accommodate this anticipated increase in clinical and research activity, we will need to enhance resources needed for the collection of genetic samples, and counselling of parents and family members. We have increased the faculty involvement in the program with the recruitment of Dr. Uri Tabori to the Division who, in addition to his activities in the Neuro-Oncology program, has developed a strong clinical and translational research interest in cancer genetics. This is an important complement to Dr. Malkin’s leadership in the CGP from the oncology section together with Drs. Weksberg and Meyn from genetics.