Abstract
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors. Six hundred and fifty new patients referred to a regional genetics service were tracked through 850 clinical contacts until discharge. Referral decisions regarding allocation of lead health professional assigned to the case were monitored, including the use of initial clinical contact guidelines. Significant differences were found in the cases led by genetic counsellors and those led by clinical geneticists. Around a sixth, 16.8% (109/650) of referrals were dealt with by a letter back to the referrer or re-directed to another service provider and 14.8% (80/541) of the remaining patients chose not to schedule an appointment. Of the remaining 461 patients, genetic counsellors were allocated as lead health professional for 46.2% (213/461). A further 61 patients did not attend. Of those who did, 86.3% (345/400) were discharged after one or two appointments. Genetic counsellors contributed to 95% (784/825) of total patient contacts. They provided 93.7% (395/432) of initial contacts and 26.8% (106/395) of patients were discharged at that point. The information from this study informed a planned service re-design. More research is needed to assess the effectiveness and efficiency of different models of collaborative multi-disciplinary working within genetics services.
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
Change history
16 July 2015
This paper has been amended since online publication and a corrigendum also appears in this issue
References
Evans D, Barwell J, Eccles D et al: The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res 2014; 16: 442.
Goldsmith L, Jackson L, O’Connor A, Skirton H : Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J Commun Genet 2013; 4: 169–180.
Schwartz MD, Valdimarsdottir HB, Peshkin BN et al: Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 2014; 32: 618–626.
Iredale R, Jones L, Gray J, Deaville J : 'The edge effect': an exploratory study of some factors affecting referrals to cancer genetic services in rural Wales. Health Place 2005; 11: 197–204.
McCann E, Baines EA, Gray JR, Proctor AM : Improving service delivery by evaluation of the referral pattern and capacity in a clinical genetics setting. Am J Med Genet C Semin Med Genet 2009; 151C: 200–206.
Delikurt T, Williamson G, Anastasiadou V, Skirton H : A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet 2014, e-pub ahead of print 10 September 2014 doi:10.1038/ejhg.2014.180.
Benjamin C Cochrane (EPOC) Title Registration. Interventions to improve patient access, service utilization and cost of providing genetic counselling services http://summaries.cochrane.org/title/interventions-to-improve-patient-access-service-utilization-and-cost-of-providing-genetic-counselling-services (accessed December 2014).
Miller-Keane: Definition of Healthcare Teams. 7th edn. http://medical-dictionary.thefreedictionary.com/team Elsevier, 2003. (accessed December 2014).
Kerr B, Turnpenny P Bromillow G on behalf of the Association of Genetic Nurses and Counsellors and Clinical Genetics Society: Professional Roles in the Multidisciplinary Team in Clinical Genetics. A Framework for Practice prepared by a Working Party of the Association of Genetic Nurses and Counsellors and Clinical Genetics Society http://www.clingensoc.org/media/43550/wp_agnc_cgs_v2.pdf (accessed December 2014) 2011.
Skirton H, Cordier C, Ingvoldstadt C, Taris N, Benjamin CM : The role of the genetic counsellor: a systematic review of research evidence. Eur J Hum Genet 2014, e-pub ahead of print 11 June 2014 doi:10.1038/ejhg.2014.116.
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 Commun Genet 2012; 3: 19–24.
Skirton H, Cordier C, Lambert D, Hosterey Ugander U, Voelckel MA, O’Connor A : A study of the practice of individual genetic counsellors and genetic nurses in Europe. J Commun Genet 2013; 4: 69–75.
England NHS Specialised Services National Definitions Set - Medical Genetics E01/S/a http://www.england.nhs.uk/wp-content/uploads/2013/06/e01-med-gen.pdf 2013 (accessed December 2014).
NHS England Clinical Reference Group Medical Genetics: Outline Specification for the Specialist Commissioning of Genetic and Genomic Services for England, 2014, http://www.bsgm.org.uk/media/883258/bshg_july_51.pdf pp 22-25 (accessed December 2014).
Barnes C, Kerzin-Storrar L, Skirton H, Tocher J : The Department of Health-supported genetic counsellor training post scheme in England: a unique initiative? J Commun Genet 2012; 3: 297–302.
Personal Communication. Association of Genetic Nurses and Counsellors: Results from joint AGNC/lead genetic counsellor meeting 20 October 2011; Available from the Chair of the Association of Genetic Nurses and Counsellors.
Skirton H, Kerzin-Storrar L, Barnes C et al: Building the genetic counsellor profession in the United Kingdom: two decades of growth and development. J Genet Couns 2013; 22: 902–906.
EURORDIS Rare Diseases Europe EURORDIS Rare Diseases Europe, Kole A EURORDIS Rare Diseases Europe, Faurisson F The voice of 12,000 patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. A report based on the EurordisCare2 and EurordisCare3 Surveys 2009, http://www.eurordis.org/publication/voice-12000-patients (accessed December 2014).
Rare Disease UK: Experiences of Rare Diseases: An insight from Patients and Families http://www.raredisease.org.uk/documents/RDUK-Family-Report.pdf 2010 (Accessed December 2014).
Burton H, Cole T, Farndon P : Genomics in Medicine - Delivering Genomics Through Clinical Practice. Public Health Genetics Foundation, 2012.
Laurant M, Reeves D, Hermens R, Braspenning J, Grol R, Sibbald B : Substitution of doctors by nurses in primary care. Cochrane Database Syst Rev 2005; (2): CD001271.
Richardson G : Identifying, evaluating and implementing cost-effective skill mix. J Nurs Manag 1999; 7: 265–270.
Dierick-van Daele ATM, Spreeuwenberg C, Metsemakers JFM, Vrijhoef BJM : Critical appraisal of the literature on economic evaluations of substitution of skills between professionals: a systematic literature review. J Eval Clin Pract 2008; 14: 481–492.
McAllister M, Wood A, Dunn G, Shiloh S, Todd C : The Genetic Counselling Outcome Scale: a new patient reported outcome measure for clinical genetics services. Clin Genet 2011; 79: 413–424.
Zellerino B, Milligan SA, Brooks R, Freedenberg DL, Collingridge DS, Williams MS : Development, testing, and validation of a patient satisfaction questionnaire for use in the clinical genetics setting. Am J Med Genet C Semin Med Genet 2009; 151C: 191–199.
Norris A : Practice development unit - every person makes a difference. BMJ Support Palliat Care 2011; 1: 258–259.
McAllister M, Payne K, Nicholls S, MacLeod R, Donnai D, Davies L : Patient empowerment in clinical genetics services. J Health Psychol 2008; 13: 887–897.
Hannig V, Cohen M, Pfotenhauer J, Williams M, Morgan T, Phillips JR : Expansion of genetic services utilizing a general genetic counseling clinic. J Genet Couns 2013; 23: 64–71.
Kromberg JGR, Parkes J, Taylor S : Genetic counselling as a developing healthcare profession: a case study in the queensland context. Aust J Prim Health 2006; 12: 33–39.
Kromberg JGR, Wessels T-M, Krause A : Roles of genetic counsellors in South Africa. J Genet Couns 2013; 6: 753–761.
Kirk M, Simpson A, Llewellyn M, Tonkin E, Cohen D, Longley M : Evaluating the role of Cardiac Genetics Nurses in inherited cardiac conditions services using a Maturity Matrix. Eur J Cardiovasc Nurs 2014; 13: 418–428.
Martin G, Weaver S, Currie G, McDonald R, Finn R : Innovation sustainability in challenging health-care contexts: embedding clinically led change in routine practice. Health Serv Manage Res 2012; 25: 190–199.
Bennett CL, Burke SE, Burton H, Farndon PA : A toolkit for incorporating genetics into mainstream medical services: Learning from service development pilots in England. BMC Health Serv Res 2010; 10: 125.
Rigter T, Henneman L, Broerse J, Shepherd M, Blanco I, Kristoffersson U et al: Developing a framework for implementation of genetic services: learning from examples of testing for monogenic forms of common diseases. J Commun Genet 2014; 5: 337–347.
Cohen SA, Marvin ML, Riley BD, Vig HS, Rousseau JA, Gustafson SL : Identification of genetic counseling service delivery models in practice: a report from the NSGC Service Delivery Model Task Force. J Genet Couns 2013; 22: 411–421.
Cohen S, Gustafson S, Marvin ML, Vig HS, Rousseau J A, Gustafson SL et al: Report from the National Society of Genetic Counselors service delivery model task force: a proposal to define models, components, and modes of referral. J Genet Couns 2012; 21: 645–651.
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N : Genetics in health care: an overview of current and emerging models. Public Health Genomics 2012; 15: 34–45.
Trepanier A, Allain D : Models of Service delivery for cancer genetic risk assessment and counselling. J Genet Couns 2014; 23: 239–253.
Peters DH, Taghreed A, Alonge O : Implementation research: what it is and how to do it. BMJ 2013; 347: 1–7.
Craig P, Dieppe P, Nacintyre S, Mitchie S, Nazareth I, Petticrew M : Developing and evaluating complex interventions: the new Medical Research Council guidance. BMJ 2008; 337: 979–983.
Acknowledgements
We would like to thank the patients and staff of Liverpool Women’s Hospital NHS Foundation Trust and acknowledge the funding from a Charitable Trust Grant, Liverpool Women’s Foundation (NHS) Hospital Trust. We would also like to thank Dr Lois Thomas, Reader in Health Services Research, UCLan (University of Central Lancashire) for her helpful suggestions on earlier drafts of this paper.
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
Benjamin, C., Houghton, C., Foo, C. et al. A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service. Eur J Hum Genet 23, 996–1003 (2015). https://doi.org/10.1038/ejhg.2015.33
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2015.33
This article is cited by
-
Towards establishing consistency in triage in a tertiary specialty
European Journal of Human Genetics (2019)
