A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD)

착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구

  • Kim, Min-Jee (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Kang, Inn-Soo (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Jeong, Seon-Yong (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Kim, Hyon-J. (Department of Medical Genetics, Ajou University School of Medicine)
  • 김민지 (관동대학교 의과대학 제일병원 생식생물학 및 불임연구실) ;
  • 이형송 (관동대학교 의과대학 제일병원 생식생물학 및 불임연구실) ;
  • 강인수 (관동대학교 의과대학 제일병원 산부인과) ;
  • 정선용 (아주대학교 의과대학 의학유전학과) ;
  • 김현주 (아주대학교 의과대학 의학유전학과)
  • Received : 2010.12.03
  • Accepted : 2010.12.21
  • Published : 2010.12.01

Abstract

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

References

  1. Shenfield F, Pennings G, Devroye P, Sureau C, Tarlatzis B, Cohen J, et al. Taskforce 5: preimplantation genetic diagnosis. Hum Reprod 2003;18:649-51. https://doi.org/10.1093/humrep/deg110
  2. Kim JY, Kang IS. Clinical application of preimplantation genetic diagnosis (PGD). Korean J Reprod Med 2008;35:19-38.
  3. Katz MG, Fitzgerald L, Bankier A, Savulescu J, Cram DS. Issues and concerns of couples presenting for preimplantation genetic diagnosis (PGD). Prenat Diagn 2002;22:1117-22. https://doi.org/10.1002/pd.498
  4. Sermon K, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet 2004;363:1633-41. https://doi.org/10.1016/S0140-6736(04)16209-0
  5. Lee HS, Kim MJ, Kang IS. Preimplantation genetic diagnosis for single gene disorders. J Genet Med 2009;6:131-45.
  6. Goossens V, Harton G, Moutou C, Traeger-Synodinos J, Van Rij M, Harper JC. ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod 2009;24:1786-810. https://doi.org/10.1093/humrep/dep059
  7. Munne S. Preimplantation genetic diagnosis and human implantation-A Review. Placenta 2003;24:S70-6. https://doi.org/10.1016/S0143-4004(03)00177-2
  8. Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective. Hum Reprod 2004;19:2849-58. https://doi.org/10.1093/humrep/deh536
  9. Platteau P, Staessen C, Michiels A, Van Steirteghem A, Liebaers I, Devroey P. Preimplantation genetic diagnosis for aneuploidy screening in women older than 37 years. Fertil Steril 2005;84:319-24. https://doi.org/10.1016/j.fertnstert.2005.02.019
  10. Lim CK, Jun JH, Min DM, Lee HS, Kim JY, Koong MK, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 2004;24:556-61. https://doi.org/10.1002/pd.923
  11. Lee HS, Choi HW, Lim CK, Min DM, Byun HK, Kim JY, et al. Successful preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, junctional epidermolysis bullosa and lactic acidosis using nested PCR: delivery of healthy baby by specific preimlantation genetic diagnosis for ornithine transcarbamylase deficiency. Kor J Obstet Gynecol 2004;47:708-18.
  12. Aittomaki K, Wennerholm UB, Bergh C, Selbing A, Hazekamp J, Nygren KG. Safety issues in assisted reproduction technology: should ICSI patients have genetic testing before treatment? A practical proposition to help patient information. Hum Reprod 2004;19:472-6. https://doi.org/10.1093/humrep/deh100
  13. Thornhill AR, deDie-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, et al. ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod 2005;20:35-48. https://doi.org/10.1093/humrep/deh579
  14. Preimplantation Genetic Diagnosis International Society. The Preimplantation Genetic Diagnosis International Society (PGDIS): Guidelines for good practice in PGD. Reprod Biomed Online 2004;9:430-4. https://doi.org/10.1016/S1472-6483(10)61279-5
  15. Shiloh S, Saxe L. Perception of risk in genetic counselling. Psychol Health 1989;3:45-61. https://doi.org/10.1080/08870448908400365
  16. Kim HJ. Genetic counseling. J Kor Neuol Ass 2003;21:473-7.
  17. Kim HJ. Challenge of personalized medicine in the genomic era. J Genet Med 2008;5:89-93.
  18. Soini S, Ibarreta D, Anastasiadou V, Ayme S, Braga S, Cornel M, et al. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet 2006;4:588-645.
  19. Chung YS, Kim SY. Choi JY, Kim HJ. National survey for genetic counseling and demands for professional genetic counselor. J Genet Med 2007;4:167-78.
  20. Kim HJ. Genetic counseling in Korean health care system. J Genet Med 2007;3:1-5.