We describe utilization of clinical genetic services among survivors of childhood and young adult cancer after participation in a genetic registry. Clinical genetic counselors flagged 162 out of 1069 pedigrees (15.2%) as suggestive of inheritable cancer susceptibility, resulting in 126 (11.8%) referral letters. Following delivery of the referral letters, 19 (15.1%) participants completed clinical genetic counseling, 16 (12.7%) received testing, and four (3.2%) were found to have actionable results. Our results suggest a discordance between reported willingness to undergo genetic counseling and real-world utilization.
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Bhatia S, Sklar C (2002) Second cancers in survivors of childhood cancer. Nat Rev Cancer 2:124–132. https://doi.org/10.1038/nrc722
Blanchette PS et al (2014) Genomic testing in cancer: patient knowledge, attitudes, and expectations. Cancer 120:3066–3073. https://doi.org/10.1002/cncr.28807
Druker H, Zelley K, McGee RB, Scollon SR, Kohlmann WK, Schneider KA, Wolfe Schneider K (2017) Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology. Patient Clin Cancer Res 23:e91–e97. https://doi.org/10.1158/1078-0432.CCR-17-0834
Geer KP, Ropka ME, Cohn WF, Jones SM, Miesfeldt S (2001) Factors influencing patients’ decisions to decline cancer genetic counseling services. J Genet Couns 10:25–40
Georgiou G et al (2016) Genetic testing for the risk of developing late effects among survivors of childhood cancer: consumer understanding, acceptance, and willingness to pay. Cancer 122:2876–2885. https://doi.org/10.1002/cncr.30119
Hampel H et al (2015) A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med 17:70–87. https://doi.org/10.1038/gim.2014.147
Julian-Reynier C, Welkenhuysen M, Hagoel L, Decruyenaere M, Hopwood P, Group CW (2003) Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services. Eur J Hum Genet 11:725–736. https://doi.org/10.1038/sj.ejhg.5201037
Kiran T, Davie S, Moineddin R, Lofters A (2018) Mailed letter versus phone call to increase uptake of cancer screening: a pragmatic, Randomized Trial. J Am Board Fam Med 31:857–868. https://doi.org/10.3122/jabfm.2018.06.170369
Knapke S, Nagarajan R, Correll J, Kent D, Burns K (2012) Hereditary cancer risk assessment in a pediatric oncology follow-up clinic. Pediatr Blood Cancer 58:85–89. https://doi.org/10.1002/pbc.23283
Kne A, Zierhut H, Baldinger S, Swenson KK, Mink P, Veach PM, Tsai ML (2017) Why is cancer genetic counseling underutilized by women identified as at risk for hereditary breast cancer? Patient Perceptions of Barriers Following a Referral Letter. J Genet Couns 26:697–715. https://doi.org/10.1007/s10897-016-0040-0
Mai PL, Vadaparampil ST, Breen N, McNeel TS, Wideroff L, Graubard BI (2014) Awareness of cancer susceptibility genetic testing: the 2000, 2005, and 2010. National Health Interview Surv Am J Prev Med 46:440–448. https://doi.org/10.1016/j.amepre.2014.01.002
National Comprehensive Cancer Network (2020) NCCN Guidelines. https://www.nccn.org/professionals/physician_gls/default.aspx#detection. Accessed 17 August 2019
Niendorf KB, Geller MA, Vogel RI, Church TR, Leininger A, Bakke A, Madoff RD (2016) A model for patient-direct screening and referral for familial cancer risk. Familial Cancer 15:707–716. https://doi.org/10.1007/s10689-016-9912-6
O'Neill SM, Peters JA, Vogel VG, Feingold E, Rubinstein WS (2006) Referral to cancer genetic counseling: are there stages of readiness? Am J Med Genet C: Semin Med Genet 142C:221–231. https://doi.org/10.1002/ajmg.c.30109
Smit AK, Keogh LA, Hersch J, Newson AJ, Butow P, Williams G, Cust AE (2016) Public preferences for communicating personal genomic risk information: a focus group study. Health Expect 19:1203–1214. https://doi.org/10.1111/hex.12406
Spector LG, Pankratz N, Marcotte EL (2015) Genetic and nongenetic risk factors for childhood cancer. Pediatr Clin N Am 62:11–25. https://doi.org/10.1016/j.pcl.2014.09.013
Vadaparampil ST, Quinn GP, Miree CA, Brzosowicz J, Carter B, Laronga C (2009) Recall of and reactions to a surgeon referral letter for BRCA genetic counseling among high-risk breast cancer patients. Ann Surg Oncol 16:1973–1981. https://doi.org/10.1245/s10434-009-0479-4
Wang Z, Wilson CL, Easton J, Thrasher A, Mulder H, Liu Q, Hedges DJ, Wang S, Rusch MC, Edmonson MN, Levy S, Lanctot JQ, Caron E, Shelton K, Currie K, Lear M, Patel A, Rosencrance C, Shao Y, Vadodaria B, Yergeau D, Sapkota Y, Brooke RJ, Moon W, Rampersaud E, Ma X, Chang TC, Rice SV, Pepper C, Zhou X, Chen X, Chen W, Jones A, Boone B, Ehrhardt MJ, Krasin MJ, Howell RM, Phillips NS, Lewis C, Srivastava D, Pui CH, Kesserwan CA, Wu G, Nichols KE, Downing JR, Hudson MM, Yasui Y, Robison LL, Zhang J (2018) Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer. J Clin Oncol 36:2078–2087. https://doi.org/10.1200/JCO.2018.77.8589
This work was supported by the National Cancer Institute (P30CA008748 and R25CA020449) and the Meg Berté Owen Fund. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Conflict of interest
The authors declare that they have no conflict of interest.
We received Institutional Review Board approval from the Memorial Sloan Kettering Cancer Center (MSKCC) to create a genetic registry for survivors of childhood and young adult cancer. Our study is in accordance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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Anderson, N., Delavar, A., Friedman, D.N. et al. Utilization of clinical genetic counseling among childhood and young adult cancer survivors in a registry trial. J Community Genet 11, 501–504 (2020). https://doi.org/10.1007/s12687-020-00478-0
- Genetic testing
- Childhood cancer
- Young adult cancer
- Cancer survivor