Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology

Abstract

Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals of at-risk patients. Retrospective chart review was followed by educational intervention—with impact assessed over a 9-month prospective chart review. Referral rate improved >2-fold and there was an improvement in documented oncologic history to at least a third-degree relative. The integration of quality improvement can be an effective tool to improve the referral of patients with an elevated risk for a cancer predisposition syndrome.

Diagnostic Strategies and Algorithms for Investigating Cancer Predisposition Syndromes in Children Presenting with Malignancy

“…On the other side, clinical screening tools provide valuable information, increasing the pre-test probability of diagnosing CPS. They are easy-to-use tools with excellent sensitivity and a sufficient specificity (especially when combined [ 13 , 91 ]) and can be employed in daily clinical practice to reduce costs and avoid unnecessary genetic testing.…”

Considerations in Methods and Timing for Delivery of Genetic Counseling Information to Pediatric Oncology Patients and Families

“…Approximately 10% to 15% of pediatric patients with a cancer diagnosis have a cancer predisposition syndrome (CPS),1–5 which is slightly higher than the 5% to 10% of adults with cancer that are identified to have an underlying hereditary predisposition 6. While position statements for referral to genetic services have been proposed by several authors and organizations, there is not a universally accepted set of referral guidelines to help providers identify these patients 7–24. In October 2016, the American Association for Cancer Research (AACR) Childhood Cancer Predisposition Workshop was held in which international experts met to establish consensus surveillance and referral guidelines for children with CPSs.…”

“…Our previous study found that few oncology providers documented family concerns about genetic issues in the electronic health record system 17. The reasons for this lack of documentation are not yet known, but are potentially caused by a lack of family awareness, failure to document the discussion that did occur, or lack of provider awareness, prioritization, or comfort with the discussion.…”

“…Our previous study found that few oncology providers documented family concerns about genetic issues in the electronic health record system. 17 The reasons for this lack of documentation are not yet known, but are potentially caused by a lack of family awareness, failure to document the discussion that did occur, or lack of provider awareness, prioritization, or comfort with the discussion. Despite the low frequency of documented discussions, a 2019 study by Desrosiers and colleagues with 42 participants (80.5% Caucasian, 82.9% female) indicated that more than half of parents of children with pediatric cancer were interested in genetic counseling and testing, although this study was unable to draw any conclusions about the optimal age or timing for the introduction of genetic counseling.…”

“…6 While position statements for referral to genetic services have been proposed by several authors and organizations, there is not a universally accepted set of referral guidelines to help providers identify these patients. [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] In October 2016, the American Association for Cancer Research (AACR) Childhood Cancer Predisposition Workshop was held in which international experts met to establish consensus surveillance and referral guidelines for children with CPSs. Expert consensus was that a genetic counseling referral is recommended at the time of diagnosis to maximize the timeliness of genetic testing.…”