Skip to main content
SpringerLink
Log in

A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients.

Methods

Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Counselors in November of 2017.

Results

One hundred twenty genetic counselors completed the quantitative survey, distributed in Fall of 2017. While the majority of respondents knew of the Gaucher-related Parkinson’s link (n = 78; 65%), just over one-third reported discussing it in preconception/prenatal settings (n = 30; 38.5%). Respondents reported discussing these links more consistently when disclosing positive results or when the patient/family approached the topic. Respondents cited the lack of professional guidelines as one of the main reasons for not discussing the link.

Conclusion

These results highlight an inconsistency in PPGCs’ discussions of the Parkinson’s risk in Gaucher disease carriers, and the need to develop guidelines regarding these issues to help standardize the care and education of patients.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

Data availability

Access to data is restricted to certain individuals in accordance to IRB protocol.

Code availability

Not applicable.

References

  1. Committee Opinion No. 691. Carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41–55. https://doi.org/10.1097/AOG.0000000000001952.

    Article  Google Scholar 

  2. Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A. Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. J Genet Couns. 2012;21(6):752–60. https://doi.org/10.1007/s10897-012-9524-8.

    Article  PubMed  Google Scholar 

  3. Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A. Fragile X-associated neuropsychiatric disorders (FXAND). Front Psychiatry. 2018;13(9):564. https://doi.org/10.3389/fpsyt.2018.00564.

    Article  Google Scholar 

  4. Berwick M, Satagopan JM, Ben-Porat L, Carlson A, Mah K, Henry R, Diotti R, Milton K, Pujara K, Landers T, Dev Batish S, Morales J, Schindler D, Hanenberg H, Hromas R, Levran O, Auerbach AD. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res. 2007;67(19):9591–6. https://doi.org/10.1158/0008-5472.CAN-07-1501.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Bogdanova N, Feshchenko S, Schürmann P, Waltes R, Wieland B, Hillemanns P, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Varon R, Dörk T. Nijmegen breakage syndrome mutations and risk of breast cancer. Int J Cancer. 2008;122(4):802–6. https://doi.org/10.1002/ijc.23168.

    Article  CAS  PubMed  Google Scholar 

  6. de Voer RM, Hahn MM, Mensenkamp AR, Hoischen A, Gilissen C, Henkes A, Spruijt L, van Zelst-Stams WA, Kets CM, Verwiel ET, Nagtegaal ID, Schackert HK, van Kessel AG, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Deleterious germline BLM mutations and the risk for early-onset colorectal cancer. Sci Rep. 2015;11(5):14060. https://doi.org/10.1038/srep14060.

    Article  Google Scholar 

  7. Geoffroy-Perez B, Janin N, Ossian K, Laugé A, Croquette MF, Griscelli C, Debré M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer. 2001;93(2):288–93. https://doi.org/10.1002/ijc.1329.

    Article  CAS  PubMed  Google Scholar 

  8. Kannai R, Chertok IR. Prenatal panel screening considerations for non-neuronopathic Gaucher disease in the Ashkenazi-Jewish population. Isr Med Assoc J. 2006;8(5):347–50.

    PubMed  Google Scholar 

  9. Falcone D, Wood EM, Mennuti M, Xie SX, Van Deerlin VM. Prenatal healthcare providers’ Gaucher disease carrier screening practices. Genet Med. 2012;14(10):844–51. https://doi.org/10.1038/gim.2012.63.

    Article  PubMed  PubMed Central  Google Scholar 

  10. Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet. 2004;41(12):937–40. https://doi.org/10.1136/jmg.2004.024455.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Rana HQ, Balwani M, Bier L, Alcalay RN. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med. 2013;15(2):146–9. https://doi.org/10.1038/gim.2012.107.

    Article  CAS  PubMed  Google Scholar 

  12. Rosenbloom B, Balwani M, Bronstein JM, Kolodny E, Sathe S, Gwosdow AR, Taylor JS, Cole JA, Zimran A, Weinreb NJ. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry. Blood Cells Mol Dis. 2011;46(1):95–102. https://doi.org/10.1016/j.bcmd.2010.10.006.

    Article  PubMed  Google Scholar 

  13. Gan-Or Z, Amshalom I, Kilarski LL, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, Orr-Urtreger A. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology. 2015;84(9):880–7. https://doi.org/10.1212/WNL.0000000000001315.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. de Lau LM, Breteler MM. Epidemiology of Parkinson’s disease. Lancet Neurol. 2006;5(6):525–35. https://doi.org/10.1016/S1474-4422(06)70471-9.

    Article  PubMed  Google Scholar 

  15. Tysnes OB, Storstein A. Epidemiology of Parkinson’s disease. J Neural Transm (Vienna). 2017;124(8):901–5. https://doi.org/10.1007/s00702-017-1686-y.

    Article  Google Scholar 

  16. Lopez G, Sidransky E. Autosomal recessive mutations in the development of Parkinson’s disease. Biomark Med. 2010;4(5):713–21. https://doi.org/10.2217/bmm.10.96.

    Article  CAS  PubMed  Google Scholar 

  17. Lazarin GA, Haque IS. Expanded carrier screening: a review of early implementation and literature. Semin Perinatol. 2016;40(1):29–34. https://doi.org/10.1053/j.semperi.2015.11.005.

    Article  PubMed  Google Scholar 

  18. Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15(6):482–3. https://doi.org/10.1038/gim.2013.47.

    Article  CAS  PubMed  Google Scholar 

  19. Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS, ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021. https://doi.org/10.1038/s41436-021-01203-z.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Reeves A, Trepanier A. Comparison of informed consent preferences for multiplex genetic carrier screening among a diverse population. J Genet Couns. 2016;25(1):166–78. https://doi.org/10.1007/s10897-015-9854-4.

    Article  PubMed  Google Scholar 

  21. Ormond KE, Iris M, Banuvar S, Minogue J, Annas GJ, Elias S. What do patients prefer: informed consent models for genetic carrier testing. J Genet Couns. 2007;16(4):539–50. https://doi.org/10.1007/s10897-007-9094-3.

    Article  CAS  PubMed  Google Scholar 

  22. Ormond KE, Banuvar S, Daly A, Iris M, Minogue J, Elias S. Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening. Patient Educ Couns. 2009;75(2):244–50. https://doi.org/10.1016/j.pec.2008.09.020.

    Article  CAS  PubMed  Google Scholar 

  23. Allen PM, Edwards JA, Snyder FJ, Makinson KA, Hamby DM. The effect of cognitive load on decision making with graphically displayed uncertainty information. Risk Anal. 2014;34(8):1495–505. https://doi.org/10.1111/risa.12161.

    Article  PubMed  Google Scholar 

  24. Harris PA, Taylor R, Thielke R, Payne J, Gonzales N, et al. Research electronic data capture (REDCap) – a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81.

    Article  Google Scholar 

  25. Lieberman S, Zuckerman S, Levy-Lahad E, Altarescu G. Conflicts regarding genetic counseling for fragile X syndrome screening: a survey of clinical geneticists and genetic counselors in Israel. Am J Med Genet A. 2011;155A(9):2154–60. https://doi.org/10.1002/ajmg.a.34155.

    Article  PubMed  Google Scholar 

  26. National Society of Genetic Counselors (NSGC), Inc. (2017). NSGC Code of Ethics. Accessed August 29, 2020, from https://www.nsgc.org/p/cm/ld/fid=12

  27. Scuffham TM, McInerny-Leo A, Ng SK, Mellick G. Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease. J Community Genet. 2014;5:167–77. https://doi.org/10.1007/s12687-0168-7.

    Article  PubMed  Google Scholar 

  28. Zaretsky L, Zeid N, Naik H, Alcalay RN, Balwani M. Knowledge and attitudes of Parkinson’s disease risk in the Gaucher population. J Genet Couns. 2019;29:105–11. https://doi.org/10.1002/jgc4.1185.

    Article  PubMed  Google Scholar 

  29. Mulhern M, Bier L, Alcalay RN, Balwani M. Patients’ opinions on genetic counsel ing on the increased risk of Parkinson disease among Gaucher disease carriers. J Genet Counsel. 2017. https://doi.org/10.1007/s10897-017-0161-0.

    Article  Google Scholar 

  30. Rabkina L, Swanson A, Aufox S, Propst L, Fiddler M, Wagner A, Arjunan A. What women want: general population perspectives and access to preconception expanded carrier screening. Prenat Diagn. 2021;41(9):1057–65. https://doi.org/10.1002/pd.5995.

    Article  PubMed  Google Scholar 

  31. Choi J, Kane T, Propst L, Spencer S, Kostialik J, Arjunan A. Not just carriers: experiences of X-linked female heterozygotes. J Assist Reprod Genet. 2021;38(10):2757–67. https://doi.org/10.1007/s10815-021-02270-6.

    Article  PubMed  Google Scholar 

  32. National Society of Genetic Counselors. 2021 Professional status survey: executive summary. 2021. Accessed January 8, 2022.https://www.nsgc.org/Portals/0/Executive%20Summary%202021%20FINAL%2005-03-21.pdf

  33. Lauren, Bogue Holly, Peay Ann, Martin Ann, Lucas Sindhu, Ramchandren (2016) Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy. Neuromuscular Disorders 26(12) 860-864 10.1016/j.nmd.2016.09.008

    Article  PubMed  Google Scholar 

  34. Marc, Engelen Mathieu, Barbier Inge M. E., Dijkstra Remmelt, Schür Rob M. A., de Bie Camiel, Verhamme Marcel G. W., Dijkgraaf Patrick A., Aubourg Ronald J. A., Wanders Bjorn M., van Geel Marianne, de Visser Bwee T., Poll–The Stephan, Kemp (2014) (2014) (2014) X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain 137(3) 693-706 10.1093/brain/awt361

Download references

Acknowledgements

The authors would like to thank Lisa Kinsley, neurology genetic counselor, for serving on the thesis committee. The authors would also like to thank Amy Yang, biostatistician, who provided guidance on the statistical analyses. Funding for the donation incentive was provided by Northwestern University Graduate Program in Genetic Counseling. Research presented in this paper was conducted to fulfill a requirement for a Master of Science degree in genetic counseling of first author Tara Jones.

Funding

The research was conducted as part of a Master’s thesis project for the Northwestern University Graduate Program in Genetic Counseling. Funding for the study was provided by Northwestern University.

Author information

Authors and Affiliations

  1. Clinical Genetics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Tara A. Jones & Sharon Aufox

  2. Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA

    Jeanine Schulze

  3. Norton & Elaine Sarnoff Center for Jewish Genetics, Chicago, IL, USA

    Jason Rothstein

  4. Myriad Women’s Health, Medical Affairs, South San Francisco, CA, USA

    Aishwarya Arjunan

Authors
  1. Tara A. Jones
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Jeanine Schulze
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sharon Aufox
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Jason Rothstein
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Aishwarya Arjunan
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

All authors played a role in study design and data interpretation. TJ reviewed literature, analyzed data, designed figures, and drafted the manuscript. AA and JS edited the manuscript and approved the final version for publication. JR and SA provided manuscript feedback. JS served as subject expert. AA served as principal investigator. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Aishwarya Arjunan.

Ethics declarations

Conflict of interest

AA was an employee and shareholder of Myriad Genetics, a laboratory that offers carrier screening at the time of study. TJ holds shares in Invitae and Myriad, both genetic laboratories offering carrier screening. The other authors declare no competing interests.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (PDF 118 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Jones, T., Schulze, J., Aufox, S. et al. A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility. J Assist Reprod Genet 39, 747–755 (2022). https://doi.org/10.1007/s10815-022-02430-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-022-02430-2

Keywords

Search

Navigation