Physicians’ Knowledge and Perception of Gene Profiling in Malaysia

Availability of different genetic tests after completion of Human Genome Project increases the physicians’ responsibility to keep themselves update on the potential implementation of these genetic tests in their daily practice. However, due to numbers of barriers, still many of physicians are not either aware of these tests or are not willing to offer or refer their patients for genetic tests. This study was conducted an anonymous, cross-sectional, mailed-based survey to develop a primary data of Malaysian physicians’ level of knowledge and perception of gene profiling. Questionnaire had 29 questions. Total scores on selected questions were used to assess the level of knowledge. The highest possible score was 11. Descriptive statistics, one way ANOVA and chi-squared test was used for statistical analysis. Sixty three completed questionnaires were returned by 27 general practitioners (GPs) and 36 medical specialists. Responders’ age ranges from 24 to 55 years old (mean 30.2 ± 6.4). About 40% of the participants rated themselves as having poor level of knowledge in genetics in general whilst 60% believed that they have fair level of knowledge; however, almost half (46%) of the respondents felt that they were not knowledgeable about available genetic tests. A majority (94%) of the responders were not aware of any lab or company which is offering gene profiling services in Malaysia. Only 4% of participants were aware of using gene profiling for detection of dosage of some drugs. Respondents perceived greater utility of gene profiling for breast cancer (38%) compared to the colorectal familial cancer (3%). The score of knowledge ranged from 2 to 8 (mean 4.38 ± 1.67). Non- significant differences between score of knowledge of GPs and specialists were observed, with score of 4.19 and 4.58 respectively. There was no significant association between any demographic factors and level of knowledge. However, those who graduated between years 2001 to 2005 had higher level of knowledge. Overall, 83% of participants showed relatively high level of perception on value of gene profiling to detect patient’s risk of disease. However, low perception was observed for both statements of using gene profiling for general population in order to alter their lifestyle (25%) as well as having the full sequence of a patient genome for the purpose of determining a patient’s best match for treatment (18%). The lack of clinical guidelines, limited provider knowledge and awareness, lack of time and resources to educate patients, lack of evidence-based clinical information and cost of tests were the most barriers of ordering gene profiling mentioned by physicians. In conclusion Malaysian physicians who participate in this study had mediocre level of knowledge and awareness in gene profiling. The low exposure to the genetic questions and problems might be a key predictor of lack of awareness and knowledge on available genetic tests. Educational and training workshop might be useful in helping Malaysian physicians incorporate genetic profiling into practice for eligible patients.




References:
[1] McLendon, R and et al. 2008. The Cancer Genome Atlas Research
Network. Comprehensive genomic characterization defines human
glioblastoma genes and core pathways. Nature 455, 1061–1068.
[2] Ley TJ, Mardis ER, Ding L, Fulton B, McLellan MD, Chen K, Dooling
D, Dunford-Shore BH, McGrath S, Hickenbotham M, Cook L, Abbott
R, Larson DE, Koboldt DC, Pohl C, Smith S, Hawkins A, Abbott S,
Locke D, Hillier LW, Miner T, Fulton L, Magrini V, Wylie T,
Glasscock J, Conyers J, Sander N, Shi X, Osborne JR, Minx P, Gordon
D, Chinwalla A, Zhao Y, Ries RE, Payton JE, Westervelt P, Tomasson
MH, Watson M, Baty J, Ivanovich J, Heath S, Shannon WD, Nagarajan
R, Walter MJ, Link DC, Graubert TA, DiPersio JF, Wilson RK. 2008.
DNA sequencing of a cytogenetically normal acute myeloid leukaemia
genome. Nature. 6;456(7218):66-72.
[3] Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S, Andrews
JM, Buck G, Chen L, Beare D, Latimer C, Widaa S, Hinton J, Fahey C,
Fu B, Swamy S, Dalgliesh GL, Teh BT, Deloukas P, Yang F, Campbell
PJ, Futreal PA, Stratton MR. 2010. Signatures of mutation and selection
in the cancer genome. Nature. 18;463(7283):893-8.
[4] Meyerson, M., Gabriel, S. & Getz, G. 2010. Advances in understanding
cancer genomes through second-generation sequencing. Nature Rev.
Genet. 11, 685–696.
[5] Stankiewicz, P. & Lupski, J. R. 2010. Structural variation in the human
genome and its role in disease. Annu. Rev. Med. 61, 437–455.
[6] Pao W, Miller V, Zakowski M, Doherty J, Politi K, Sarkaria I, Singh B,
Heelan R, Rusch V, Fulton L, Mardis E, Kupfer D, Wilson R, Kris M,
Varmus H. 2004. EGF receptor gene mutations are common in lung
cancers from "never smokers" and are associated with sensitivity of
tumors to gefitinib and erlotinib. Proc Natl Acad Sci U S A.
7;101(36):13306-11.
[7] Cohen AL, Holmen SL, Colman H. 2013. IDH1 and IDH2 mutations in
gliomas. Curr Neurol Neurosci Rep. 13(5):345.
[8] Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. 2008.
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome.
N Engl J Med. 26;358(26):2787-95
[9] D’Hulst, C. & Kooy, R. F. 2009. Fragile X syndrome: frommolecular
genetics to therapy. J. Med. Genet. 46, 577–584.
[10] Frueh FW, Amur S, Mummaneni P, Epstein RS, Aubert RE, DeLuca
TM, Verbrugge RR, Burckart GJ, Lesko LJ. 2008. Pharmacogenomic
biomarker information in drug labels approved by the United States
Food and Drug Administration: prevalence of related drug use.
Pharmacotherapy 28, 992–998.
[11] Baars MJ, Henneman L, Ten Kate LP. 2005. Deficiency of knowledge
of genetics and genetic tests among general practitioners, gynecologists,
and pediatricians: a global problem. Genet Med. 7(9):605-10.
[12] Escher M, Sappino AP. 2000. Primary care physicians’ knowledge and
attitudes towards genetic testing for breast-ovarian cancer predisposition.
Ann Oncol.11:1131–1135.
[13] Powell KP, Christianson CA, Cogswell WA, Dave G, Verma A,
Eubanks S, Henrich VC.2012. Educational needs of primary care
physicians regarding direct-to-consumer genetic testing. J Genet Couns.
21(3):469-78.
[14] Schroy PC, Barrison AF, Ling BS, Wilson S, Geller AC. 2002. Family
history and colorectal cancer screening: a survey of physician
knowledge and practice patterns. Am J Gastroenterol 97:1031–1036.
[15] Offit, K. 2008. Genomic profiles for disease risk: predictive or
premature? Journal of the American Medical Association, 299 (11),
1353–1355.
[16] Feero, W. G. 2008. Genetics of common disease: a primary care priority
aligned with a teachable moment? Genetics in Medicine, 10, 81–82.
[17] Emery J, Watson E, Rose P, Andermann A. 1999. A systematic review
of the literature exploring the role of primary care in genetic services.
Fam Pract 16:426–445.
[18] Fetters MD, Doukas DJ, Phan KL. 1999. Family physicians’
perspectives on genetics and the human genome project. Clin Genet.
56:28–34.
[19] Haga, SB, Julianne M. O’Daniel, Genevieve M. Tindall, Rachel Mills,
Isaac M. Lipkus, and Robert Agans, 2012. Survey of Genetic Counselors
and Clinical Geneticists’ Use and Attitudes towards Pharmacogenetic
Testing. Clin Genet. 82(2): 115–120.
[20] Watson EK, Shickle D, Qureshi N, Emery J, Austoker J. 1999. The ‘new
genetics’ and primary care: GPs’ views on their role and their
educational needs. Fam Pract. 16:420–425.
[21] Freedman, AN. Wideroff, L. Olson,L Davis, W. Klabunde, C. Srinath, KP. Reeve, BB Croyle, RT and Ballard-Barbash, R. 2003. US
Physicians’ Attitudes Toward Genetic Testing for Cancer Susceptibility
American Journal of Medical Genetics 120A:63–71.
[22] Hunter A, Wright P, Cappelli M, Kasaboski A, Surh L. 1998. Physician
knowledge and attitudes towards molecular genetic (DNA) testing of
their patients. Clin Genet. 53:447–455.
[23] Zgheib NK, Arawi T, Mahfouz RA, Sabra R. 2011. Attitudes of health
care professionals toward pharmacogenetic testing. Mol Diagn Ther.
1;15(2):115-22.
[24] Sikkens EH, de Walle HE, Reefhuis J, vanTintelen JP, van Essen AJ.
2002. Referral for genetic counseling after the birth of a child with a
congenital anomaly in the Northern Netherlands. Am J Med Genet.
112:133–137.
[25] Aalfs CM, Smets EM, de Haes HC, Leschot NJ. 2003. Referral for
genetic counselling during pregnancy: limited alertness and awareness
about genetic risk factors among GPs. Fam Pract. 20:135–141.
[26] Shields AE, Burke W, Levy DE. 2008. Differential use of available
genetic tests among primary care physicians in the United States: results
of a national survey. Genet Med. 10(6):404-14.
[27] Mainous AG 3rd, Johnson SP, Chirina S, Baker R. 2013.Academic
family physicians’ perception of genetic testing and integration into
practice: a CERA study. Fam Med. 45(4):257-262.
[28] Harrold, LR., Field, TS., & Gurwitz, JH. 1999. Knowledge, Patterns of
Care, and Outcomes of Care for Generalists and Specialists. J Gen Intern
Med. 14(8): 499–511.
[29] Gikas, A. & Triantafillidis, JK. 2014. The role of primary care
physicians in early diagnosis and treatment of chronic gastrointestinal
diseases. Int J Gen Med. 7: 159–173.
[30] Pichert G, Dietrich D, Moosmann P, Zwahlen M, Stahel RA, Sappino
AP. 2003. Swiss primary care physicians' knowledge, attitudes and
perception towards genetic testing for hereditary breast cancer. Fam
Cancer. 2(3-4):153-8.
[31] van den Akker-van Marle ME, Gurwitz D, Detmar SB, Enzing CM,
Hopkins MM, Gutierrez de Mesa E, Ibarreta D. 2006. Cost-effectiveness
of pharmacogenomics in clinical practice: a case study of thiopurine
methyltransferase genotyping in acute lymphoblastic leukemia in
Europe. Pharmacogenomics. 7(5):783-92.
[32] Thompson AJ, Newman WG, Elliott RA, Roberts SA, Tricker K, Payne
K. 2014. The cost-effectiveness of a pharmacogenetic test: a trial-based
evaluation of TPMT genotyping for azathioprine. Value Health.
17(1):22-33.
[33] Hagaman JT, Kinder BW, Eckman MH. 2010. Thiopurine Smethyltransferase
(corrected) testing in idiopathic pulmonary fibrosis: a
pharmacogenetic cost-effectiveness analysis. Lung. 188(2):125-32.