Abstract
Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant’s perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Evers-Kiebooms G, Welkenhysen M, Claes E, Decruyenaere M, Denayer L : The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers. Soc Sci Med 2000; 51: 831–841.
Evers-Kiebooms G : Genetic counselling for late-onset disorders; in Kristoffersson U, Schmidtke J, Cassiman JJ (eds): Quality Issues in Clinical Genetic Services. Berlin: Springer, 2010, pp 353–360.
Skirton H, Goldsmith L, Jackson L, Tibben A : Quality in genetic counselling for presymptomatic testing - clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet 2012; 21: 256–260.
MacLeod R, Tibben A, Frontali M et al: Recommendations for the predictive genetic test in Huntington's disease. Recommendations for the predictive genetic test in Huntington’s disease. Clin Genet 2013; 83: 221–231.
Brain K, Soldan J, Sampson J, Gray J : Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres. Clin Genet 2003; 63: 198–204.
Paneque M, Sequeiros J, Skirton H : Quality assessment of genetic counselling process in the context of presymptomatic testing for late-onset disorders: a thematic analysis of three review articles. Genet Test Mol Bioma 2012; 16: 36–45.
Duisterhof M, Trijsburg RW, Niermeijer MF, Roos RA, Tibben A : Psychological studies in Huntington’s disease: making up the balance. J Med Genet 2001; 38: 852–856.
Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E : Decreasing uptake of predictive testing for Huntington’s disease in a German centre: 12 years’ experience (1993–2004). Eur J Hum Genet 2009; 17: 295–300.
Dufrasne S, Roy M, Galvez M, Rosenblatt D : Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab 2011; 102: 494–504.
Rodrigues CS, de Oliveira VZ, Camargo G et al: Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing. J Genet Couns 2012; 21: 101–112.
Schuler-Faccini L, Osorio CM, Romariz F, Paneque M, Sequeiros J, Jardim L : Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. Genet Mol Biol 2014; 37: 263–270.
Cruz-Mariño T, Velázquez-Pérez L, González-Zaldivar Y et al: The cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from. Clin Genet 2013; 83: 518–524.
Guimarães L, Sequeiros J, Skirton H, Paneque M : What counts as successful in genetic counseling for presymptomatic testing in late-onset disorders? The consultands perspective. J Genet Couns 2013; 22: 437–447.
Mendes A, Guimarães L, Sequeiros J, Skirton H, Paneque M : Professional's views on quality issues of genetic counseling offered for presymptomatic testing for late-onset neurodegenerative disorders: what is relevant? Eur J Hum Genet 2013; 21: 422.
Paneque M, Sequeiros J : The practice of Genetic Counselling in Portugal: where are we and what are the challenges? National Meeting of Portuguesse Society of Human Genetics SPGH, November 2013.
Underhill N : The Deplhi technique. http://www.britishcouncil.org/eltons-delphi_technique.pdf, 2004, accessed on September 2012.
Hsu CH, Sandford B : The Delphi Technique: making sense of consensus. Pract Assess Res Eval 2007; 12: Available online http://pareonline.net/getvn.asp?v=12&n=10.
Clarke A, Evers-Kiebooms G, Faucett A et al: Instrument for internal assessment of the quality of genetic counselling within a genetic counselling clinic. http://www.eurogentest.org/professionals/db/news/499/index.xhtml, 2008, accessed 18 July 2014.
McAllister M, Wood AM, Dunn G, Shiloh S, Todd C : The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet 2011; 79: 413–424.
Okoli CH, Pawlowski SD : The Delphi method as a research tool: an example, design considerations and applications. Information & Management 2004; 42: 15–29.
Kääriäinen H, Hietala M, Kristoffersson U et al: Recommendations for genetic counselling related to genetic testing. Available at http://www.eurogentest.org/fileadmin/templates/eugt/pdf/guidelines_of_GC_final.pdf, 2008, accessed on 18 July 2014.
Rantanen E, Hietala M, Kristoffersson U et al: What is ideal genetic counseling? A survey of current international guidelines. Eur J Hum Genet 2008; 16: 445–452.
Pilnick A : ‘There are no rights and wrongs in these situations’: identifying interactional difficulties in genetic counselling. Sociol Health Ill 2002; 24: 66–88.
Zellerino BC, Milligan SA, Gray JR, Williams MS, Brooks R : Identification and prioritization of quality indicators in clinical genetics: an international survey. Am J Med Genet 2009; 151: 179–190.
IHA/WFN, International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea: Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 1994; 31: 555–559.
Sequeiros J : O teste preditivo da doença de Machado-Joseph (Predictive Testing for Machado Joseph’s Disease). Porto: UnIGENe-IBMC, 1996.
Jones ME, MacLeod R : Patient views on the delivery of predictive test counselling services for Huntington’s Disease. Eur J Hum Genet 2014; 22: 358.
Sijmons RH, Scott RJ, Lubinski J : Presymptomatic DNA Testing in BRCA1/2: Invited reactions from the field on the van Oostrom and Tibben paper. Hered Cancer Clin Pract 2004; 2: 107–109.
Hawkins A, Ho A, Hayden M : Lessons from predictive testing for Huntington disease: 25 years on. J Med Genet 2011; 48: 649–650.
Tibben A : Predictive testing for Huntington’s disease. Brain Res Bull 2007; 72: 165–171.
Mearns D, Thorne B : Person-Centred Counselling in Action. 2nd edn. London: Sage, 1999.
Faulkner A : Breaking Bad News In Effective Interaction with Patients. Edinburgh: Churchill Livingstone, 1997, pp 119–134.
Skirton H, Voelckel M.A, Patch C : Using a community of practice to develop standards of practice and education for genetic counselors in Europe. J Community Genet 2010; 1: 169–173.
Cordier C, Lambert D, Voelckel MA, Hosterey-Ugander U, Skirton H : A profile of the genetic counsellor and genetic nurse profession in European countries. J Community Genet 2012; 3: 19–24.
Skirton H, Lewis C, Kent A, Coviello D : The members of Eurogentest Unit 6 and ESHG Education Committee. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet 2010; 18: 972–977.
Clarke A, Middleton A, Cowley L et al: Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision. J Genet Couns 2007; 16: 127–142.
European Registration Process for genetic counsellors and genetic nurses. https://www.eshg.org/471.0.html, accessed on September 2014.
Acknowledgements
We are grateful to all professionals for their time and precious contribute to this study. MP (SFRH/BPD/66484/2009) has a postdoctoral fellowship from the Portuguese Foundation for Science and Technology (FCT).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Additional information
Supplementary Information accompanies this paper on European Journal of Human Genetics website
Supplementary information
Rights and permissions
About this article
Cite this article
Paneque, M., Sequeiros, J. & Skirton, H. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study. Eur J Hum Genet 23, 1468–1472 (2015). https://doi.org/10.1038/ejhg.2015.23
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2015.23
This article is cited by
-
Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review
Journal of Neurology (2022)
-
Primary care providers’ lived experiences of genetics in practice
Journal of Community Genetics (2019)
-
The need to develop an evidence base for genetic counselling in Europe
European Journal of Human Genetics (2016)
