Abstract
A Faculty of Medicine needs to respond appropriately to the rapid changes in medical education, to ensure that future geneticists are well trained to meet the challenges of medical practice. This paper presents five core requirements for a tool integrating new methodologies for teaching graduate-level a course of medical genetics. Our methodology presented here focuses on exploiting pedigree analysis in the field of medical genetics, particularly to explore them in the diagnosis of genetic diseases. Because of its important relevance as one of the skills that future medical practitioners must have, we designed this approach as a learning process supported by a tool. We also discuss an ongoing supported effort at utilizing common tools and IT resources to make it easier for the learners to reach their expected skill levels and provide them with a rich learning experience. We find that not only do our tool prototype has a positive impact on the learning process, practitioners also have expectations to feed a bio-bank of medical cases as inputs for future empirical studies.
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References
Aceto, L., Hansen, J., Ingolfsdottir, A., Johnsen, J., Knudsen, J.: The complexity of checking consistency of pedigree information and related problems. J. Comput. Sci. Technol. 19(1), 42 (2004). Special Issue on Bioinformatics
Asamoah, D., Sharda, R., Zadeh, A.H., Kalgotra, P.: Preparing a data scientist: a pedagogic experience in designing a big data analytics course. Decis. Sci. Innov. Educ. 15(2), 161–190 (2017)
Bennett, R.L., French, K.S., Resta, R.G., Doyle, D.L.: Standardized human pedigree nomenclature: update and assessment of the recommendations of the national society of genetic counselors. J. Genet. Couns. 17(5), 424–433 (2008)
Bennett, R.L.: The family medical history as a tool in preconception consultation. J. Commun. Genet. 3(3), 175–183 (2012)
Biggs, J., Tang, C.: Teaching For Quality Learning at University (Society for Research Into Higher Education), 4th edn. Open University Press, London (2011)
Facio, F.M., Feero, W.G., Linn, A., Oden, N., Manickam, K., Biesecker, L.G.: Validation of my family health portrait for six common heritable conditions. Genet. Med. Official J. Am. Coll. Med. Genet. 12(6), 175–183 (2010)
He, D., Wang, Z., Parida, L., Eskin, E.: IPED2: inheritance path based pedigree reconstruction algorithm for complicated pedigrees. IEEE/ACM Trans. Comput. Biol. Bioinform. 14(5), 1094–1103 (2017)
Jouali, F., Laarabi, F.-Z., Marchoudi, N., Ratbi, I., Elalaoui, S., Rhaissi, H., Fekkak, J., Sefiani, A.: First application of next-generation sequencing in moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the brca1 gene. Oncol. Lett. 12(2), 1192–1196 (2016)
Krathwohl, D.: A revision of bloom’s taxonomy: an overview. Theory Into Pract. 41(4), 212–264 (2004)
Majumder, M.A., D’Souza, U., Rahman, S.: Trends in medical education: challenges and directions for need-based reforms of medical training in South-East Asia. Indian J. Med. Sci. 58, 369–380 (2004)
Ozuah, P.O.: Undergraduate medical education: thoughts on future challenges. BMC Med. Educ. 2(1), 8 (2002)
Paterson, T., Graham, M., Kennedy, J., Law, A.: VIPER: a visualisation tool for exploring inheritance inconsistencies in genotyped pedigrees. J. BMC Bioinform. 3(3), 175–183 (2012)
Pirinen, M., Gasbarra, D.: Finding consistent gene transmission patterns on large and complex pedigrees. IEEE/ACM Trans. Comput. Biol. Bioinform. 3(3), 252–262 (2006)
Prince, M.: Does active learning work? A review of the research. J. Eng. Educ. 93(3), 223–231 (2004)
Ranaweera, T., Makalic, E., Hopper, J.L., Bickerstaffe, A.: An open-source, integrated pedigree data management and visualization tool for genetic epidemiology. J. Genet. Couns. 47(4), 1034–1039 (2018)
Solomon, B.D., Muenke, M.: When to suspect a genetic syndrome. Am. Fam. Physician 86(9), 826–833 (2012)
Sommerville, I.: Software Engineering, 9th edn. Addison-Wesley Publishing Company, Boston (2010)
Tokutomi, T., Fukushima, A., Yamamoto, K., Bansho, Y., Hachiya, T., Shimizu, A.: f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies. BMC Med. Genet. 18(1), 175–183 (2017)
Wagner, S., Fernández, D.M.: Analysing text in software projects. CoRR, abs/1612.00164 (2015)
Yang, L., Cheng, E., Özsoyoǧlu, Z.M.: Using compact encodings for path-based computations on pedigree graphs. In: Proceedings of the 2nd ACM Conference on Bioinformatics, Computational Biology and Biomedicine, pp. 235–244 (2011)
Yuan, S.-M., Zhang, Y.-N., Du, J., Li, W., Tu, C.-F., Meng, L.-L., Lin, G., Lu, G.-X., Tan, Y.-Q.: Phenotypic and molecular characteristics of androgen insensitivity syndrome patients. Asian J. Androl. 20(5), 473–478 (2018)
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Kerzazi, N., Tajir, M., Boulouiz, R., Bellaoui, M., Azizi, M. (2020). Teaching Pedigree Analysis and Risk Calculation for Diagnosis Purposes of Genetic Disease. In: Rocha, Á., Adeli, H., Reis, L., Costanzo, S., Orovic, I., Moreira, F. (eds) Trends and Innovations in Information Systems and Technologies. WorldCIST 2020. Advances in Intelligent Systems and Computing, vol 1159. Springer, Cham. https://doi.org/10.1007/978-3-030-45688-7_48
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DOI: https://doi.org/10.1007/978-3-030-45688-7_48
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