Medical students' self-perceived knowledge and clinical comfort with genetics in Pakistan.

education genetic genetic services

Journal

Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865

Informations de publication

Date de publication:
13 Nov 2023
Historique:
revised: 07 10 2023
received: 22 02 2023
accepted: 14 10 2023
medline: 14 11 2023
pubmed: 14 11 2023
entrez: 14 11 2023
Statut: aheadofprint

Résumé

Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted lack of genetic and geneticists. To meet the needs of the patient population, the responsibility of providing clinical genetic services falls on general and specialty physicians. However, their education regarding these essential services is not standardized in medical school curricula nor has it ever been evaluated. The purpose of this work is to describe the self-perceived knowledge, clinical comfort, and perspectives of Pakistani medical students toward their medical genetics' education. A web-based survey was distributed electronically to medical schools around the country. The survey comprised of four sections: (1) participant demographics, (2) self-perceived medical genetics knowledge, (3) level of comfort in applying genetic knowledge and skills, and (4) attitudes toward medical genetics education. Descriptive statistics and a one-way analysis of variance were used for data analysis. Medical students in years 3, 4, and 5 (n = 473) from 25 medical schools participated in this research representing medical education in four Pakistani provinces. Most medical students reported "minimal" to "basic" knowledge of genetic testing methodology (64.7%), cancer genetics (64.9%), prenatal genetic testing (63.02%), and treatment strategies for genetic disease (72.9%). A plurality of students (37%) reported they were uncomfortable with interpreting and communicating genetic test results to patients. Medical students also expressed dissatisfaction with their medical genetics (40%) and genetic training (42%). The self-perceived knowledge and clinical comfort with genetics among Pakistani medical students was limited, especially regarding genetic testing. A significant portion (74.5%) expressed desire for additional genetics education during medical school to aid in their role as future physicians. It is important for physicians-in-training to have a solid understanding of genetic concepts, technologies, and genetic to best support their patients. As endorsed by the participating medical students, this study supports inclusion of more robust genetics' education into Pakistan's medical school curricula.

Identifiants

pubmed: 37960989
doi: 10.1002/jgc4.1828
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2023 National Society of Genetic Counselors.

Références

Abacan, M., Alsubaie, L., Barlow-Stewart, K., Caanen, B., Cordier, C., Courtney, E., Davoine, E., Edwards, J., Elackatt, N. J., Gardiner, K., Guan, Y., Huang, L.-H., Malmgren, C. I., Kejriwal, S., Kim, H. J., Lambert, D., Lantigua-Cruz, P. A., Lee, J. M. H., Lodahl, M., … Wicklund, C. (2019). The global state of the genetic counseling profession. European Journal of Human Genetics, 27(2), 183-197. https://doi.org/10.1038/s41431-018-0252-x
Afridi, C. M. K. (1962). Medical education in Pakistan. Academic Medicine, 37(9), 962-970.
Afroze, B., & Jehan, F. (2014). Pre-natal genetic counseling in a resource limited country-A single center geneticist’s perspectives. The Journal of the Pakistan Medical Association, 64(9), 1008-1011.
Ahmed, F., Mahmud, S., Hatcher, J., & Khan, S. M. (2006). Breast cancer risk factor knowledge among nurses in teaching hospitals of Karachi, Pakistan: A cross-sectional study. BMC Nursing, 5(1), 6. https://doi.org/10.1186/1472-6955-5-6
Ahmed, S., Jafri, H., Rashid, Y., Mason, G., Ehsan, Y., & Ahmed, M. (2017). Attitudes towards non-invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country. Prenatal Diagnosis, 37(3), 289-295. https://doi.org/10.1002/pd.5008
Ahmed, S., Saleem, M., Modell, B., & Petrou, M. (2002). Screening extended families for genetic hemoglobin disorders in Pakistan. New England Journal of Medicine, 347(15), 1162-1168. https://doi.org/10.1056/NEJMsa013234
Alotaibi, A. A., & Cordero, M. A. W. (2021). Assessing medical students' knowledge of genetics: Basis for improving genetics curriculum for future clinical practice. Advances in Medical Education and Practice, 12, 1521-1530. https://doi.org/10.2147/AMEP.S337756
Ashfaq, M., Ahmed, S. A., Aziz-Rizvi, R., Hasan, Z., Kirmani, S., Munim, S., Naeem, R., Raza, J., & Furqan, A. (2022). Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: A web-based panel discussion. Journal of Community Genetics, 1-10, 71-80. https://doi.org/10.1007/s12687-022-00615-x
Ashfaq, M., Amanullah, F., Ashfaq, A., & Ormond, K. E. (2013). The views of Pakistani doctors regarding genetic counseling services - Is there a future? Journal of Genetic Counseling, 22(6), 721-732. https://doi.org/10.1007/s10897-013-9578-2
Baars, M. J. H., Henneman, L., & Ten Kate, L. P. (2005). Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: A global problem. Genetics in Medicine, 7(9), 605-610. https://doi.org/10.1097/01.gim.0000182895.28432.c7
Balobaid, A., Qari, A., & Al-Zaidan, H. (2016). Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia. International Journal of Pediatrics & Adolescent Medicine, 3(1), 1-6. https://doi.org/10.1016/j.ijpam.2015.12.002
Bhinder, M. A., Sadia, H., Mahmood, N., Qasim, M., Hussain, Z., Rashid, M. M., Zahoor, M. Y., Bhatti, R., Shehzad, W., Waryah, A. M., & Jahan, S. (2019). Consanguinity: A blessing or menace at population level? Annals of Human Genetics, 83(4), 214-219. https://doi.org/10.1111/ahg.12308
Bishop, M., Metcalfe, S., & Gaff, C. (2008). The missing element: Consanguinity as a component of genetic risk assessment. Genetics in Medicine, 10(8), 612-620. https://doi.org/10.1097/GIM.0b013e31817d2a65
Bottorff, J. L., Blaine, S., Carroll, J. C., Esplen, M. J., Evans, J., Nicolson Klimek, M. L., Meschino, W., & Ritvo, P. (2005). The educational needs and professional roles of Canadian physicians and nurses regarding genetic testing and adult-onset hereditary disease. Community Genetics, 8(2), 80-87. https://doi.org/10.1159/000084775
Burke, S., Stone, A., Bedward, J., Thomas, H., & Farndon, P. (2006). A “neglected part of the curriculum” or “of limited use”? Views on genetics training by nongenetics medical trainees and implications for delivery. Genetics in Medicine, 8(2), 109-115. https://doi.org/10.1097/01.gim.0000200159.19920.b5
Carroll, J. C., Brown, J. B., Blaine, S., Glendon, G., Pugh, P., & Medved, W. (2003). Genetic susceptibility to cancer. Family physicians' experience. Canadian Family Physician Medecin de Famille Canadien, 49, 45-52.
Cheema, H., Bertoli-Avella, A. M., Skrahina, V., Anjum, M. N., Waheed, N., Saeed, A., Beetz, C., Perez-Lopez, J., Rocha, M. E., Alawbathani, S., Pereira, C., Hovakimyan, M., Patric, I. R. P., Paknia, O., Ameziane, N., Cozma, C., Bauer, P., & Rolfs, A. (2020). Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. NPJ Genomic Medicine, 5, 44. https://doi.org/10.1038/s41525-020-00150-z
Chow-White, P., Ha, D., & Laskin, J. (2017). Knowledge, attitudes, and values among physicians working with clinical genomics: A survey of medical oncologists. Human Resources for Health, 15(1), 42. https://doi.org/10.1186/s12960-017-0218-z
Dhar, S. U., Alford, R. L., Nelson, E. A., & Potocki, L. (2012). Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genetics in Medicine, 14(1), 163-167. https://doi.org/10.1038/gim.0b013e31822dd7d4
Domanska, K., Carlsson, C., Bendahl, P.-O., & Nilbert, M. (2009). Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels. BMC Medical Genetics, 10, 30. https://doi.org/10.1186/1471-2350-10-30
Farooq, A., Naveed, A. K., Azeem, Z., & Ahmad, T. (2011). Breast and ovarian cancer risk due to prevalence of BRCA1 and BRCA2 variants in Pakistani population: A Pakistani database report. Journal of Oncology, 2011, 632870. https://doi.org/10.1155/2011/632870
Frank, J. R., Snell, L. S., Cate, O. T., Holmboe, E. S., Carraccio, C., Swing, S. R., Harris, P., Glasgow, N. J., Campbell, C., Dath, D., Harden, R. M., Iobst, W., Long, D. M., Mungroo, R., Richardson, D. L., Sherbino, J., Silver, I., Taber, S., Talbot, M., & Harris, K. A. (2010). Competency-based medical education: Theory to practice. Medical Teacher, 32(8), 638-645. https://doi.org/10.3109/0142159X.2010.501190
Government of Pakistan Statistics Division. (2019). Pakistan social and living standards measurement survey (2018-2019). Federal Bureau of Statistics.
Greendale, K., & Pyeritz, R. E. (2001). Empowering primary care health professionals in medical genetics: How soon? How fast? How far? American Journal of Medical Genetics, 106(3), 223-232. https://doi.org/10.1002/ajmg.10010
Gustavson, K.-H. (2005). Prevalence and aetiology of congenital birth defects, infant mortality and mental retardation in Lahore, Pakistan: A prospective cohort study. Acta Paediatrica (Oslo, Norway: 1992), 94(6), 769-774. https://doi.org/10.1111/j.1651-2227.2005.tb01981.x
Hosen, M. J., Anwar, S., Taslem Mourosi, J., Chakraborty, S., Miah, M. F., & Vanakker, O. M. (2021). Genetic counseling in the context of Bangladesh: Current scenario, challenges, and a framework for genetic service implementation. Orphanet Journal of Rare Diseases, 16(1), 168. https://doi.org/10.1186/s13023-021-01804-6
Hsiao, C.-Y., Riper, M. V., Lee, S.-H., Chen, S.-J., & Lin, S.-C. (2011). Taiwanese nursing students' perceived knowledge and clinical comfort with genetics. Journal of Nursing Scholarship, 43(2), 125-132. https://doi.org/10.1111/j.1547-5069.2011.01389.x
Hsieh, H.-F., & Shannon, S. E. (2005). Three approaches to qualitative content analysis. Qualitative Health Research, 15(9), 1277-1288. https://doi.org/10.1177/1049732305276687
Hussain, R. (1999). Community perceptions of reasons for preference for consanguineous marriages in Pakistan. Journal of Biosocial Science, 31, 449-461.
Javaeed, A. (2019). General needs assessment of the undergraduate medical students to integrate courses on medical ethics, time management and communication skills into the bachelor of medicine, bachelor of surgery curriculum of Pakistani medical colleges. Cureus, 11(4), e4433. https://doi.org/10.7759/cureus.4433
Khalid, A. M., Sohail, M., Naiyar, I., Khalid, H., Riaz, M., & Baig, M. (2021). Perceptions of medical students in Pakistan, KSA, and the US regarding the significance of case-based learning. Journal of Taibah University Medical Sciences, 16(3), 344-349. https://doi.org/10.1016/j.jtumed.2021.02.011
Lasta, J. L., Groto, A. D., & Brandalize, A. P. C. (2023). Assessment of medical knowledge toward genetic testing for individuals with hereditary breast and ovarian cancer syndrome in Brazil. Preventive Medicine Reports, 35, 102356. https://doi.org/10.1016/j.pmedr.2023.102356
Latif, M. Z., & Wajid, G. (2018). Reforming medical education in Pakistan through strengthening departments of medical education. Pakistan Journal of Medical Sciences, 34(6), 1439-1444. https://doi.org/10.12669/pjms.346.15942
Li, J., Xu, T., & Yashar, B. M. (2015). Genetics educational needs in China: Physicians' experience and knowledge of genetic testing. Genetics in Medicine, 17(9), 757-760. https://doi.org/10.1038/gim.2014.182
Lopes-Júnior, L. C., Carvalho Júnior, P. M., de Faria Ferraz, V. E., Nascimento, L. C., Van Riper, M., & Flória-Santos, M. (2017). Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross-sectional study. Nursing & Health Sciences, 19(1), 66-74. https://doi.org/10.1111/nhs.12304
Malik, S., Hanif, A., Khokher, S., Iqbal, Z., Rana, S., Imran, M., et al. (2009). Association of genetic and non-genetic risk factors with specific BRCA mutation positive breast cancer in some Pakistani females. Pakistan Journal of Physiology, 5, 1.
Maradiegue, A., Edwards, Q. T., Seibert, D., Macri, C., & Sitzer, L. (2005). Knowledge, perceptions, and attitudes of advanced practice nursing students regarding medical genetics. Journal of the American Academy of Nurse Practitioners, 17(11), 472-479. https://doi.org/10.1111/j.1745-7599.2005.00076.x
Massingham, L. J., Nuñez, S., Bernstein, J. A., Gardner, D. P., Parikh, A. S., Strovel, E. T., Quintero-Rivera, F., Anderson, H., Ashfaq, M., Bernstein, J., Burke, L., Cross, C., Dhar, S., Garber, K., Gardner, D., Gold, J.-A., Hudder, A., Hyland, K., Larsen, N., … Yatsenko, S. (2022). 2022 Association of Professors of human and medical genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics. Genetics in Medicine, 24(10), 2167-2179. https://doi.org/10.1016/j.gim.2022.07.014
McGovern, M. M., Johnston, M., Brown, K., Zinberg, R., & Cohen, D. (2006). Use of standardized patients in, undergraduate medical genetics education. Teaching and Learning in Medicine, 18(3), 203-207. https://doi.org/10.1207/s15328015tlm1803_3
McGovern, M. M., Johnston, M., Brown, K., Zinberg, R., & Cohen, D. (2010). Use of standardized patients in undergraduate medical genetics education. Teaching and Learning in Medicine, 18, 203-207. https://doi.org/10.1207/s15328015tlm1803_3
Metcalfe, S., Hurworth, R., Newstead, J., & Robins, R. (2002). Needs assessment study of genetics education for general practitioners in Australia. Genetics in Medicine, 4(2), 71-77. https://doi.org/10.1097/00125817-200203000-00004
Miller, C. E., Krautscheid, P., Baldwin, E. E., Tvrdik, T., Openshaw, A. S., Hart, K., & LaGrave, D. (2014). Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing. American Journal of Genetic Part A, 164A(5), 1094-1101.
Mladenić, T., Mavrinac, M., Dević Pavlić, S., Malnar, A., Matić, M., Mikić, S., Ostojić, S., & Pereza, N. (2023). Non-genetic physicians' knowledge, attitudes and behavior towards medical genetics. Wien Klin Wochenschr. https://doi.org/10.1007/s00508-023-02152-0
Naz, A., Jamal, M. Y., Amanat, S., Din ujjan, I., Najmuddin, A., Patel, H., Raziq, F., Ahmed, N., Imran, A., & Shamsi, T. S. (2017). Autosomal recessive inherited bleeding disorders in Pakistan: A cross-sectional study from selected regions. Orphanet Journal of Rare Diseases, 12(1), 66. https://doi.org/10.1186/s13023-017-0620-6
Pearl, P. L., Pettiford, J. M., Combs, S. E., Heffron, A., Healton, S., Hovaguimian, A., & Macri, C. J. (2011). Assessment of genetics knowledge and skills in medical students: Insight for a clinical neurogenetics curriculum. Biochemistry and Molecular Biology Education, 39(3), 191-195. https://doi.org/10.1002/bmb.20489
Pestoff, R., Svensson, K., Paneque, M., & Malmgren, C. I. (2020). Developing a national certification pathway for genetic counselors in Sweden-A short report. Journal of Community Genetics, 11(1), 113-117. https://doi.org/10.1007/s12687-019-00426-7
Plunkett-Rondeau, J., Hyland, K., & Dasgupta, S. (2015). Training future physicians in the era of genomic medicine: Trends in undergraduate medical genetics education. Genetics in Medicine, 17(11), 927-934. https://doi.org/10.1038/gim.2014.208
Qualtrics. (2005). Provo, UT, USA. https://www.qualtrics.com
Rashid, M. U., Zaidi, A., Torres, D., Sultan, F., Benner, A., Naqvi, B., Shakoori, A. R., Seidel-Renkert, A., Farooq, H., Narod, S., Amin, A., & Hamann, U. (2006). Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. International Journal of Cancer, 119, 2832-2839. https://doi.org/10.1002/ijc.22269
Rehman, A., Jingdong, L., & Hussain, I. (2015). The province-wise literacy rate in Pakistan and its impact on the economy. Pacific Science Review B: Humanities and Social Sciences, 1(3), 140-144. https://doi.org/10.1016/j.psrb.2016.09.001
Riaz, M., Tiller, J., Ajmal, M., Azam, M., Qamar, R., & Lacaze, P. (2019). Implementation of public health genomics in Pakistan. European Journal of Human Genetics, 27(10), 1485-1492. https://doi.org/10.1038/s41431-019-0428-z
Shields, K., Czerwinski, J., Dauwe, T., Hashmi, S., Hillman, P., Mowrey, K., & Gunther, K. (2023). Genetics in the NICU: Nurses' perceived knowledge and desired education. The Journal of Continuing Education in Nursing, 54(1), 16-24. https://doi.org/10.3928/00220124-20221207-06
Slade, I., Subramanian, D. N., & Burton, H. (2016). Genomics education for medical professionals - The current UK landscape. Clinical Medicine, 16(4), 347-352. https://doi.org/10.7861/clinmedicine.16-4-347
United Nations, Department of Economic and Social Affairs, Population Division. (2019). World Population Prospects: Data Booket. ST/ESA/SER.A/424.
Wakefield, E., Keller, H., Mianzo, H., Nagaraj, C. B., Tawde, S., & Ulm, E. (2018). Reduction of health care costs and improved appropriateness of incoming test orders: The impact of genetic counselor review in an academic genetic testing laboratory. Journal of Genetic Counseling, 27(5), 1067-1073. https://doi.org/10.1007/s10897-018-0226-8
Wonkam, A., Njamnshi, A. K., & Angwafo, F. F. (2006). Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa). Genetics in Medicine, 8(6), 331-338.
World Health Organization. (2006). Medical genetic services in developing countries. The ethical, legal and social implications of genetic testing and screening. World Health Organization. Retrieved from http://www.who.int/genomics/publications/en/index1.html
World Health Organization. (2022). Accelerating access to genomics for global health: Promotion, implementation, collaboration, and ethical, legal, and social issues: a report of the WHO Science Council. (n.d.). Retrieved September 22, 2023, from https://www.who.int/publications-detail-redirect/9789240052857
Zhu, H., Colgan, J., Reddy, M., & Choe, E. K. (2016). Sharing patient-generated data in clinical practices: An interview study. AMIA … Annual symposium Proceedings. AMIA Symposium, 2016, 1303-1312.

Auteurs

Maheen Arshad (M)

Wayne State University School of Medicine, Center for Molecular Medicine and Genetics, Detroit, Michigan, USA.
Henry Ford Health System, Detroit, Michigan, USA.

Angela Trepanier (A)

Wayne State University School of Medicine, Center for Molecular Medicine and Genetics, Detroit, Michigan, USA.

S Shahrukh Hashmi (SS)

Henry Ford Health System, Detroit, Michigan, USA.
Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas, USA.

Rizwan Naeem (R)

Albert Einstein College of Medicine, New York City, New York, USA.

Saqib Mehmood (S)

University of Health Sciences, Lahore, Punjab, Pakistan.

Myla Ashfaq (M)

Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas, USA.

Classifications MeSH