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Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

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Journal of Genetic Counseling

Abstract

A limited numbers of published studies evaluate the referral reasons for genetic counseling services in the literature. These studies are focused on prenatal genetic counseling services, in particular, prenatal diagnosis. In order to provide the most effective and helpful genetic counseling services, genetics professionals need adequate knowledge about the profile of individuals referred for these services. In addition, physicians need increased awareness of the nature of genetic issues in order to make appropriate referrals. This study was intended to provide a descriptive analysis of the referral reasons of patients that received genetic counseling at a genetics center in Izmir, Turkey during an 11-year period. A total of 8965 records generated between 1998 and 2008 from one genetic center (which consists of The Department of Medical Genetics and Division of Pediatric Genetics) were evaluated retrospectively. Of these, 6,258 involved referrals for prenatal reasons, and 2,707 involved referrals for postnatal reasons. Both prenatal and postnatal records were further classified into more specific categories of referral reasons. The most common reason for genetic counseling among the prenatal patients was advanced maternal age (42.0%), followed by high risk results on prenatal biochemical screening tests such as second trimester double test [(serum concentration of alphafetoprotein (AFP), beta-human chorionic gonadotropin (beta-HCG)], triple test (serum concentration of AFP, beta-HCG, oestriol) and integrated test (26.5%). The most common indications for postnatal patients were recurrent miscarriages (28.2%) and infertility (19.7%). A significant increase in number of specific categories of referrals for genetic counseling was observed for the last 3 years after the establishment of the Medical Genetics Department. These data provide useful information about the frequency of referrals to the genetics department, and the feasibility of genetic services. Organization of genetic services and systematic procedures for genetic counseling and genetic testing may improve the public’s awareness of genetics and ensure a high standard of patient care.

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References

  • Al-Gazali, L., & Ali, B. R. (2010). Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Human Mutation, 3, 505–520.

    Article  Google Scholar 

  • Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic disorders in the Arab world. British Medical Journal, 333(7573), 831–834.

    Article  PubMed  Google Scholar 

  • Basak, A. N. (2007). The molecular pathology of beta-thalassemia in Turkey: the Boğaziçi University experience. Hemoglobin, 31, 233–241.

    Article  PubMed  CAS  Google Scholar 

  • Ceylaner, G., Ceylaner, S., Gunyeli, I., Ekici, E., Celasun, B., & Danisman, N. (2007). Evaluation of 2407 fetuses in a Turkish population. Prenatal Diagnosis, 27, 800–807.

    Article  PubMed  Google Scholar 

  • Cohen, D., Barton, G., Gray, J., & Brain, K. (2004). Health economics and genetic service development: a familial cancer genetic example. Familial Cancer, 3, 61–67.

    Article  PubMed  Google Scholar 

  • Esmer, C., Urraca, N., Carnevale, A., & Del Castillo, V. (2004). Patient follow-up is a major problem at genetics clinics. American Journal of Medical Genetics. Part A, 125A, 162–166.

    Article  PubMed  Google Scholar 

  • Ilgin, R. H., Yurur, K. N., Tukun, A., & Bokesoy, I. (2005). The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey. European Journal of Medical Genetics, 48, 13–19.

    Article  Google Scholar 

  • Koc, I. (2008). Prevalence and sociodemographic correlates of consanguineous marriages in Turkey. Journal of Biosocial Science, 40, 137–48.

    Article  PubMed  Google Scholar 

  • Menasha, J. D., Schechter, C., & Willner, J. (2000). Genetic testing: a physician’s perspective. The Mount Sinai Journal of Medicine, 67, 144–151.

    CAS  Google Scholar 

  • Ministry of Health Publication, No: 749 (2009). Health Transformation Program in Turkey, pp. 18–21.

  • Nakata, N., Wang, Y., & Bhatt, S. (2010). Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age. Prenatal Diagnosis, 30, 198–206.

    PubMed  Google Scholar 

  • Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., Strecker, M. N., et al. (2006). National Society of Genetic Counselors’ Definition Task Force: a new definition of genetic counseling: National Society Of Genetic Counselors’ Task Force Report. Journal of Genetic Counseling, 15, 77–83.

    Article  PubMed  Google Scholar 

  • Rich, T. A., & Salazar, M. (2009). Genetic risk assessment, counseling and testing. Surgical Oncology Clinics of North America, 18, 19–38.

    Article  PubMed  Google Scholar 

  • Srour, M., Mazer, B., & Shevell, M. I. (2006). Analysis of clinical features predicting etiologic yield in the assessment of global developmental delay. Pediatrics, 118, 139–145.

    Article  PubMed  Google Scholar 

  • Tomatir, A. G., Sorkun, H. C., Demirhan, H., & Akdag, B. (2006). Nurses’ professed knowledge of genetics and genetic counseling. The Tohoku Journal of Experimental Medicine, 210, 321–332.

    Article  PubMed  Google Scholar 

  • Tomatir, A. G., Sorkun, H. C., Demirhan, H., & Akdag, B. (2007). Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genetics in Medicine, 9, 130–135.

    Article  PubMed  Google Scholar 

  • Tuncbilek, E., & Koc, I. (1994). Consanguineous marriage in Turkey and its impact on fertility and mortality. Annals of Human Genetics, 58, 321–329.

    Article  PubMed  CAS  Google Scholar 

  • Verma, I. C. (2004). Genetic disorders and medical genetics in India. In D. Kumar (Ed.), Genetic disorders of the Indian (pp. 501–518). Dordrecht: Kluwer.

    Google Scholar 

  • Verma, I. C., Saxena, R., Lall, M., Bijarnia, S., & Sharma, R. (2003). Genetic counseling and prenatal diagnosis in India—experience at Sir Ganga Ram Hospital. Indian Pediatrics, 70, 293–297.

    Article  CAS  Google Scholar 

  • Vermeesch, J. R., Fiegler, H., de Leeuw, N., Szuhai, K., Schoumans, J., Ciccone, R., et al. (2007). Guidelines for molecular karyotyping in constitutional genetic diagnosis. European Journal of Human Genetics, 15, 1105–1114.

    Article  PubMed  CAS  Google Scholar 

  • World Health Organization. (2006). Medical genetic services in developing countries: The ethical, legal and social ımplications of genetic testing and screening (pp. 20–29). Geneva: WHO.

    Google Scholar 

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Authors and Affiliations

  1. Faculty of Medicine, Department of Medical Genetics, Ege University, 35100, Bornova, Izmir, Turkey

    Ozgur Cogulu, Ferda Ozkinay, Haluk Akin, Huseyin Onay, Emin Karaca, Asude Alpman Durmaz, Burak Durmaz, Ayca Aykut, Erhan Pariltay, Ozgur Kirbiyik & Cihangir Ozkinay

  2. Faculty of Medicine, Department of Medical Biology, Ege University, Izmir, Turkey

    Cumhur Gunduz

Authors
  1. Ozgur Cogulu
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  2. Ferda Ozkinay
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  3. Haluk Akin
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  4. Huseyin Onay
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  5. Emin Karaca
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  6. Asude Alpman Durmaz
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  7. Burak Durmaz
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  8. Ayca Aykut
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  9. Erhan Pariltay
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  10. Ozgur Kirbiyik
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  11. Cumhur Gunduz
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  12. Cihangir Ozkinay
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Corresponding author

Correspondence to Burak Durmaz.

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Cogulu, O., Ozkinay, F., Akin, H. et al. Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period. J Genet Counsel 20, 287–293 (2011). https://doi.org/10.1007/s10897-010-9342-9

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  • DOI: https://doi.org/10.1007/s10897-010-9342-9

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