Z. Farhood1, C. Trotter1, M. Hu2, M. Cabanillas2, M. Jackson3, T. Rich1,3, P. Graham1, J. Lee1, N. Perrier1, E. G. Grubbs1 2University Of Texas MD Anderson Cancer Center,Department Of Endocrine Neoplasia & Hormonal Disorders, Division Of Internal Medicine,Houston, TX, USA 3University Of Texas MD Anderson Cancer Center,Clinical Cancer Genetics Department,Houston, TX, USA 1University Of Texas MD Anderson Cancer Center,Surgical Oncology,Houston, TX, USA
Introduction: Hereditary cancer registries have been established globally to identify and educate at-risk relatives and to pool genotypic and phenotypic data from a large number of patients, allowing research in rare hereditary syndromes. We recently initiated an international Multiple Endocrine Neoplasia Type 2 (MEN2) Registry including components of both an online patient questionnaire (PQ) and collection of medical records (MR). We have evaluated registrants enrolled within the first 18 months to determine how the PQ correlates with the MR, identifying in what instances the more easily acquired PQ may be used as a surrogate in this complicated hereditary disease and also areas in which patient education may be improved.
Methods: A retrospective review was conducted of MEN2 registrants who submitted a PQ and had a complete MR obtained through the MEN2 Registry from 7/2012 to 3/2014. The PQ is a comprehensive 83-item document containing demographic, genetic, specific disease (medullary thyroid cancer (MTC)/hyperparathyroidism/pheochromocytoma) pathology and treatment history, general health, and family history data available in English and Arabic. PQ answers were compared to MR variables and the level of agreement scored as discordant, concordant, registrant did not report, and records did not report. Potential demographic predictors of discordance were evaluated.
Results: 117 registrants (rt) were eligible for this study; 70 females and 47 males with a median age of 48 years (range 3 to 74). Concordance between PQ and MR was >85% in 23/31 (74%) of the key variables. Variables in which concordance occurred in <80% of cases included whether the rt had undergone RET testing (79%), current status of MTC (disease free vs. alive with disease) (79%), and pathology results from thyroid surgery (68%). Non-Caucasian races were less likely to provide concordant answers for MTC status (85% vs. 43%, p=0.03). Female, Caucasian, married rt with greater than a high school education were significantly more likely to know their RET testing status. Reasonable concordance was found for diagnosis and current status of adrenal (97%) and parathyroid (90%) disease. Rt were accurate in reporting their age at MEN2 diagnosis (96% within 1yr), the year in which they underwent RET testing (99% within 1 yr), and their thyroid surgery date (98% within 1yr).
Conclusion: In the majority of self-reported data acquired through a MEN2 registry questionnaire, registrants’ answers exhibited an acceptable concordance with the medical record suggesting that a rt questionnaire may be a reliable source of data. Notable exceptions were status of RET testing and treatment course of MTC in which interrogation of the medical record remains necessary. Need for further patient education in these discordant fields is essential with special attention to those with certain demographics. Ability to rely on registrant-generated data is important for research in such rare diseases.