A comparative study of patients’ perceptions of genetic and genomic medicine services in California and Malaysia

  • Emily Qian
  • Meow-Keong Thong
  • Pamela Flodman
  • Jay Gargus
Original Article


In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed. This study examined perceived barriers experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. The study involved N = 108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers to access genetics-related healthcare. Results from this study provide evidence of similar perceived barriers, despite differences in the two populations. Participants selected the expansion of healthcare provider knowledge of rare diseases to be the most beneficial approach to overcome perceived barriers. In both locations, it was also noted that travel distance to clinic was not perceived as a large stress factor. Taking these observations together, a healthcare model with a central location of providers well-versed in medical genetics may be considered if further data support our findings. The data from this study support a need for improving healthcare provider knowledge of genetics. Future studies exploring how these perceived stress factors are impacting families as well as different methods of educating providers are suggested by findings from the study, as well as studies querying the opinions of those who are unable to access genetics services.


Malaysia Genetic counseling Southeast Asia Rare disease Genetics services Provider knowledge 



We would like to thank the translators for converting the documents and responses. We also thank the following genetic counselors and physicians who allowed us to recruit participants at their clinics: Dr. Premala Muthukumarasamy and Ms. Rifhan Azwani Mazlan at UMMC; Dr. Natalie Gallant, Dr. Valerie Watiker, Kathryn Singh, and Katherine Hall at LBMMC; Dr. Maureen Bocian, Dr. Virginia Kimonis, Dr. June Anne Gold, and Meredith Jones at UCI and CHOC. We would also like to thank the participants and their families who completed the surveys. This research was conducted in order to fulfill a master’s degree requirement at the University of California Irvine School of Medicine.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Supplementary material

12687_2018_399_MOESM1_ESM.pdf (101 kb)
ESM 1 (PDF 101 kb)


  1. Acheson LS, Stange KC, Zyzanski S (2005) Clinical genetics issues encountered by family physicians. Genet Med 7(7):501–508PubMedCrossRefGoogle Scholar
  2. Association of Professors of Human and Molecular Genetics (APHMG, 2018) Medical school core curriculum in genetics 2013. Accessed 4 November 2018
  3. Benjamin C, Houghton C, Foo C, Edgar C, Mannion G, Birch J, Ellis I, Weber A (2015) A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service. Eur J Hum Genet 23(8):996–1003PubMedPubMedCentralCrossRefGoogle Scholar
  4. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D’Alessandro LC (2016) Recommendations for the integration of genomics into clinical practice. Genet Med 18:1075–1084PubMedPubMedCentralCrossRefGoogle Scholar
  5. Buchanan AH, Christianson CA, Himmel T, Powell KP, Agbaje A, Ginsburg GS, Henrich VC, Orlando LA (2015) Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance. J Genet Couns 24(1):179–188PubMedCrossRefGoogle Scholar
  6. Carroll JC, Rideout AL, Wilson BJ, Allanson JM, Blaine SM, Esplen MJ, Farrell SA, Graham GE, MacKenzie J, Meschino W, Miller F (2009) Genetic education for primary care providers improving attitudes, knowledge, and confidence. Can Fam Physician 55(12):e92–e99PubMedPubMedCentralGoogle Scholar
  7. Cigna Medical Coverage Policy (Cigna). Whole Exome and Whole Genome Sequencing Coverage Policy. Retrieved August, 2017, from
  8. Delikurt T, Williamson GR, Anastasiadou V, Skirton H (2015) A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet 23(6):739–745PubMedCrossRefGoogle Scholar
  9. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR (2009) Newborn screening for Krabbe disease: the New York state model. Pediatr Neurol 40(4):245–252PubMedCrossRefGoogle Scholar
  10. Fogel BL, Satya-Murti S, Cohen BH (2016) Clinical exome sequencing in neurologic disease. Neurology: Clin Pract 6(2):164–176Google Scholar
  11. Genetic and rare diseases information center (GARD). (2016) Retrieved March, 2016, from
  12. Global Genes ™ (2017) Rare Diseases: Facts and Statistics Accessed 15 February 2017
  13. Harvey EK, Fogel CE, Peyrot M, Christensen KD, Terry SF, McInerney JD (2007) Providers' knowledge of genetics: a survey of 5915 individuals and families with genetic conditions. Genet Med 9(5):259–267PubMedCrossRefGoogle Scholar
  14. Hennekam RC (2011) Care for patients with ultra-rare disorders. Eur J Med Genet 54(3):220–224PubMedCrossRefGoogle Scholar
  15. Hyland KM, Dasgupta S, Garber K, Gold JA, Toriello H, Weissbecker K, Waggoner D (2016) Medical school core curriculum in genetics 2013. Association of Professors of Human and Medical Genetics website. Accessed 1 July 2018
  16. Jabatan kebajikan masyarakat (JKM). Retrieved March, 2016, from
  17. Jenkins J, Blitzer M, Boehm K, Feetham S, Gettig E, Johnson A, Lapham EV, Patenaude AF, Reynolds PP, Guttmacher AE (2001) Recommendations of core competencies in genetics essential for all health professionals. Genet Med 3(2):155–159CrossRefGoogle Scholar
  18. Katsanis SH, Katsanis N (2013) Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 14(6):415–426PubMedPubMedCentralCrossRefGoogle Scholar
  19. Kemper AR, Trotter TL, Lloyd-Puryear MA, Kyler P, Feero WG, Howell RR (2010) A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. Genet Med 12(2):77–80PubMedCrossRefGoogle Scholar
  20. Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS (2013) Attitudes and practices among internists concerning genetic testing. J Genet Couns 22(1):90–100PubMedPubMedCentralCrossRefGoogle Scholar
  21. Korf BR, Feldman G, Wiesner GL (2005) Report of Banbury summit meeting on training of physicians in medical genetics, October 20-22, 2004. Genet Med 7(6):433–438PubMedCrossRefGoogle Scholar
  22. Laedtke AL, O’Neill SM, Rubinstein WS, Vogel KJ (2012) Family physicians’ awareness and knowledge of the genetic information non-discrimination act (GINA). J Genet Couns 21(2):345–352PubMedPubMedCentralCrossRefGoogle Scholar
  23. Laurino MY, Leppig KA, Abad PJ, Cham B, Chu YWY, Kejriwal S, Lee JMH, Sternen DL, Thompson JK, Burgess MJ, Chien S, Elackatt N, Lim JY, Sura T, Faradz S, Padilla C, Paz ECD, Nauphar D, Nguyen KN, Zayts O, Vu DC, Thong MK (2018) A report on ten Asia Pacific countries on current status and future directions of the genetic counseling profession: the establishment of the professional Society of Genetic Counselors in Asia. J Genet Couns 27(1):21–32PubMedCrossRefGoogle Scholar
  24. Lee JMH, Thong MK (2013) Genetic counseling services and development of training programs in Malaysia. J Genet Couns 22(6):911–916PubMedCrossRefGoogle Scholar
  25. Mainous AG III, Johnson SP, Chirina S, Baker R (2013) Academic family physicians’ perception of genetic testing and integration into practice. Fam Med 45(4):257–262PubMedCrossRefGoogle Scholar
  26. Mandl KD, Kohane IS (2016) Time for a patient-driven health information economy? N Engl J Med 374(3):205–208PubMedCrossRefGoogle Scholar
  27. Mikat-Stevens NA, Larson IA, Tarini BA (2015) Primary-care providers' perceived barriers to integration of genetics services: a systematic review of the literature. Genetics in Medicine 17(3):169–176PubMedCrossRefGoogle Scholar
  28. Orphanet: an online rare disease and orphan drug data base. © INSERM 1997. Available on Accessed [August 2017]
  29. Pan V, Yashar BM, Pothast R, Wicklund C (2016) Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs. Genet Med 18:842–849PubMedCrossRefGoogle Scholar
  30. Perry CG, Maloney KA, Beitelshees AL, Jeng LJ, Ambulos NP, Shuldiner AR, Blitzer MG (2016) Educational innovations in clinical pharmacogenomics. Clin Pharmacol Ther 99(6):582–584PubMedCrossRefGoogle Scholar
  31. Rahimzadeh V, Bartlett G (2014) Genetics and primary care: where are we headed? J Transl Med 12(1):238PubMedPubMedCentralCrossRefGoogle Scholar
  32. Reiser C, LeRoy B, Grubs R, Walton C (2015) Report on an investigation into an entry level clinical doctorate for the genetic counseling profession and a survey of the Association of Genetic Counseling Program Directors. J Genet Couns 24(5):689–701PubMedCrossRefGoogle Scholar
  33. Salari K (2009) The dawning era of personalized medicine exposes a gap in medical education. PLoS Med 6(8):e1000138PubMedPubMedCentralCrossRefGoogle Scholar
  34. Salm M, Abbate K, Appelbaum P, Ottman R, Chung W, Marder K, Leu CS, Alcalay R, Goldman J, Curtis AM, Leech C (2014) Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. J Genet Couns 23(2):156–163PubMedPubMedCentralCrossRefGoogle Scholar
  35. Shafie AA, Chaiyakunapruk N, Supian A, Lim J, Zafra M, Hassali MAA (2016) State of rare disease management in Southeast Asia. Orphanet J Rare Dis 11(1):107PubMedPubMedCentralCrossRefGoogle Scholar
  36. Shashi V, McConkie-Rosell A, Rosell B, Schoch K, Vellore K, McDonald M, Jiang YH, Xie P, Need A, Goldstein DB (2013) The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 16(2):176–182PubMedCrossRefGoogle Scholar
  37. Shotelersuk V, Limwongse C, Mahasirimongkol S (2014) Genetics and genomics in Thailand: challenges and opportunities. Mol Genet Genomic Med 2(3):210–216PubMedPubMedCentralCrossRefGoogle Scholar
  38. Skirton H, Lewis C, Kent A, Coviello DA (2010) Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet 18(9):972–977PubMedPubMedCentralCrossRefGoogle Scholar
  39. Taber KAJ, Dickinson BD, Wilson M (2014) The promise and challenges of next-generation genome sequencing for clinical care. JAMA Intern Med 174(2):275–280CrossRefGoogle Scholar
  40. UCLA Health. Accessed on August, 2017.
  41. U.S. Census Bureau. (2016). Accessed on August, 2017
  42. Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H and Wang L (2015) Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center’s experience. Front Pediatr 3Google Scholar
  43. Wetterstrand KA (2016) DNA sequencing costs: Data from the NHGRI genome sequencing program (GSP). Retrieved Jan 25, 2016, from
  44. Wilkes MS, Day FC, Fancher TL, McDermott H, Lehman E, Bell RA, Green MJ (2017) Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. BMC Med Educ 17(1):163PubMedPubMedCentralCrossRefGoogle Scholar
  45. World Health Organization. Global Health Observatory data. (2015) (accessed Sept 10th, 2018)
  46. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369(16):1502–1511PubMedPubMedCentralCrossRefGoogle Scholar
  47. Zayts O, Sarangi S, Thong MK, Chung BHY, Lo IFM, Kan ASY, Lee JMH, Padilla CD, Cutiongco-de la Paz EM, Faradz SM, Wasant P (2013) Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia Pacific conference on human genetics. J Genet Couns 22(6):917–924PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Genetic and Genomic MedicineUniversity of California IrvineIrvineUSA
  2. 2.Department of Paediatrics, Faculty of MedicineUniversity of MalayaKuala LumpurMalaysia

Personalised recommendations