Abstract
In recent decades, genetics has undergone important technological advances. The rapid shift to genomics has made a strong impact on health systems around the world. In Portugal, this huge increase in consultations and typologies of genetic tests has joined the serious limitations of the few existing genetics services. The following study aims to characterize the current state of the network of genetics services in Portugal regarding its functioning, main challenges, and opportunities. Five semi-structured interviews were conducted, corresponding to 83.33% of the directors of the public genetics services of the National Health Service. Four thematic categories emerged from the analysis: (1) specialty and technical developments, (2) structural difficulties, (3) potentialities, and (4) future directions. The developments are due to the emergence of more comprehensive genetic applications, specific protocols and patient referral standards, and accreditation of services. The main difficulties encountered in the functioning of the services were difficulty in obtaining funding, lack of human resources, service overload, and lack of exclusive time for training and research. The potentialities mentioned were the establishment of multidisciplinary teams and the best articulation with specialists from other areas. Among the various future directions pointed out, better management of patients’ waiting lists, the importance of research, the simplification of test request procedures, and the creation of specialized units inside the genetic services, were reported. The results showed several gaps in the practice of medical genetics that should be addressed with the development of public policies for the recognition and restructuring of medical genetics in health care.
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References
Abacan M, Alsubaie L, Barlow-Stewart K et al (2018) The global state of the genetic counseling profession. Eur J Hum Genet 27(2):183–197. https://doi.org/10.1038/s41431-018-0252-x
Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M (2011) Public health research on rare diseases. Georgian Med News 11–6.
Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (2016) Rare diseases in Europe: from a wide to a local perspective. Isr Med Assoc J 18:359–363
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N (2012) Genetics in health care: an overview of current and emerging models. Public Health Genomics 15(1):34–45. https://doi.org/10.1159/000328846
Braun V, Clarke V (2006) Using thematic analysis in psychology. Qual Res Psychol 3(2):77–101. https://doi.org/10.1191/1478088706qp063oa
Buermans HPJ (1842) den Dunnen JT (2014) Next generation sequencing technology: advances and applications. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 10:1932–1941. https://doi.org/10.1016/j.bbadis.2014.06.015
Calnan M, Wainwright D, Glasner P, Newbury-Ecob R, Ferlie E (2006) ‘Medicine’s next goldmine?’ The implications of new genetic health technologies for the health service. Med Health Care Philos 9(1):33–41. https://doi.org/10.1007/s11019-005-7496-2
Cassiman JJ (2010) Improving quality and harmonization of standards in clinicalgenetic services in Europe: the EuroGentest Network of Excellence. In: Kristof-fersson U, Schmidtke J, Cassiman JJ, editors. Quality issues in clinical genetic services. London, New York: Springer Dordrecht Heidelberg. https://doi.org/10.1007/978-90-481-3919-4_1
Chou AF, Norris AI, Williamson L, Garcia K, Baysinger J, Mulvihill JJ (2009) Quality assurance in medical and public health genetics services: a systematic review. Am J Med Genet 151C(3):214–234. https://doi.org/10.1002/ajmg.c.30219
Chou AF, Duncan AR, Hallford G, Kelley DM, Dean LW (2021) Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review. J Community Genet 12(3):291–309. https://doi.org/10.1007/s12687-021-00508-5
Cornel MC, van El CG (2017) Barriers and facilitating factors for implementation of genetic services: a public health perspective. Front Public Health 5:195. https://doi.org/10.3389/fpubh.2017.00195
Costa C, Alonso I, Sequeiros J, Paneque M (2022) As associações de doenças raras em Portugal: uma fonte importante de apoio psicossocial. PSICOLOGIA, 2022, Ahead of Print, 1–11. https://doi.org/10.17575/psicologia.1803
Cusack MB, Hickerton C, Nisselle A et al (2021) General practitioners’ views on genomics, practice and education: a qualitative interview study. Aust J Gen Pract 50(10):747–752. https://doi.org/10.31128/AJGP-05-20-5448
Doyle DL, Awwad RI, Austin JC et al (2016) 2013 Review and update of the genetic counseling practice based competencies by a task force of the accreditation council for genetic counseling. J Genet Counsel 25(5):868–879. https://doi.org/10.1007/s10897-016-9984-3
Emery J (2001) The challenge of integrating genetic medicine into primary care. BMJ 322(7293):1027–1030. https://doi.org/10.1136/bmj.322.7293.1027
Encina G, Castillo-Laborde C, Lecaros JA et al (2019) Rare diseases in Chile: challenges and recommendations in universal health coverage context. Orphanet J Rare Dis 14(1). https://doi.org/10.1186/s13023-019-1261-8
Epstein CJ (2006) Medical genetics in the genomic medicine of the 21st century. Am J Human Genet 79(3):434–438. https://doi.org/10.1086/507610
Flannery DB (2018) Challenges and opportunities for effective delivery of clinical genetic services in the U.S. healthcare system. Current Opinion in Pediatrics 30(6):740–745. https://doi.org/10.1097/MOP.0000000000000693
Gubrium JF, Holstein JA (2001) Handbook of interview research: context & method. Sage Publications, Thoudand Oaks. https://doi.org/10.1002/hrdq.1164
Harding B, Webber C, Ruhland L et al (2018) Primary care providers’ lived experiences of genetics in practice. J Community Genet 10(1):85–93. https://doi.org/10.1007/s12687-018-0364-6
Harris R, Oliveira JP, Santos HG (2000) Formal recognition of the speciality of Medical Genetics in Portugal. Eur J Hum Genet 8(1):3–3. https://doi.org/10.1038/sj.ejhg.5200408
Hawkins AK, Hayden MR (2011) A grand challenge: providing benefits of clinical genetics to those in need. Genet Med 13(3):197–200. https://doi.org/10.1097/GIM.0b013e31820c056e
Kaye C, Bodurtha J, Edick M et al (2020) Regional models of genetic services in the United States. Genet Med 22(2):381–388. https://doi.org/10.1038/s41436-019-0648-1
Korf BR (2002) Integration of genetics into clinical teaching in medical school education. Genet Med 4:S33–S38. https://doi.org/10.1097/00125817-200211001-00007
Kubendra S, Sivamurthy S, Schaefer GB (2017) A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team. Genet Med 19:1260–1267. https://doi.org/10.1038/gim.2017.45
Madlensky L, Trepanier AM, Cragun D, Lerner B, Shannon KM, Zierhut H (2017) A rapid systematic review of outcomes studies in genetic counseling. J Genet Counsel 26(3):361–378. https://doi.org/10.1007/s10897-017-0067-x
Maiese DR, Keehn A, Lyon M, Flannery D, Watson M (2019) Current conditions in medical genetics practice. Genet Med 21(8):1874–1877. https://doi.org/10.1038/s41436-018-0417-6
McKusick V, Harper P (2013) History of medical genetics. In: Rimoin D, Pyeritz R, Korf B (eds) Emery and Rimoin’s Principles and Practice of Medical Genetics, vol 1, 6th edn. Academic Press, San Diego, pp 1–1
Mcleod J (2001) Qualitative research in counselling and psychotherapy. Sage Publications, London
Mikat-Stevens NA, Larson IA, Tarini BA (2015) Primarycare providers’ perceived barriers to integration of genetics services: a systematic review of the literature. Genet Med 17(3):169–176. https://doi.org/10.1038/gim.2014.101
Paneque M, Mendes Á, Guimarães L, Sequeiros J, Skirton H (2014) Genetics health professionals’ views on quality of genetic counseling service provision for presymptomatic testing in late-onset neurological diseases in Portugal: core components, specific challenges and the need for assessment tools. J Genet Couns 24(4):616–625. https://doi.org/10.1007/s10897-014-9784-6
Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H (2016) A systematic review of interventions to provide genetics education for primary care. BMC Fam Pract 17:89. https://doi.org/10.1186/s12875-016-0483-2
Paneque M, Costa C, Lemos C, Alves-Ferreira M, Sequeiros J, Lemos MS (2018) Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde. Acta Médica Portuguesa 31(6):321. https://doi.org/10.20344/amp.9997
Paneque M, Carvalho M, Rodrigues F et al (2021) A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: development and initial validation. Eur J Med Genet 64(12):104375. https://doi.org/10.1016/j.ejmg.2021.104375
Roberts JS, Dolinoy DC, Tarini BA (2014) Emerging issues in public health genomics. Annu Rev Genomics Hum Genet 15:461–480. https://doi.org/10.1146/annurev-genom-090413-025514
Santos H, Cordeiro I, Nunes L (1997) Genetic services in Portugal. Eur J Hum Genet 5(Suppl. 2):140–144. https://doi.org/10.1159/000484852
Saraiva JM, Pinto MR, Monteiro C, Marques I, Lima MR, Medeira A et al (2001) Portugal: the practice of medical genetics in Portugal. Genet Med 3(3):220–221
Senier L, Kearney M, Orne J (2015) Using public-private partnerships to mitigate disparities in access to genetic services: lessons from Wisconsin. Adv Med Sociol 16:269–305. https://doi.org/10.1108/S1057-629020150000016010
Slomp C, Morris E, Knoppers BM et al (2022) The stepwise process of integrating a genetic counsellor into primary care. Eur J Hum Genet 30:772–781. https://doi.org/10.1038/s41431-022-01040-x
Starfield B, Shi L, Macinko J (2005) Contribution of primary care to health systems and health. Milbank Q 83(3):457–502. https://doi.org/10.1111/j.1468-0009.2005.00409.x
Stoll K, Kubendran S, Cohen SA (2018) The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine. Am J Med Genet Part c, Semin Med Genet 178:24–37. https://doi.org/10.1002/ajmg.c.31602
Tizzano Ferrari E (2017) La Genética Clínica en la actualidad. Med Clin 149(2):75–77. https://doi.org/10.1016/j.medcli.2016.12.027
Unim B, Lagerberg T, Pitini E et al (2017) Identification of delivery models for the provision of predictive genetic testing in Europe: protocol for a multicentre qualitative study and a systematic review of the literature. Front Public Health 5:223. https://doi.org/10.3389/fpubh.2017.00223
Unim B, De Vito C, Hagan J, Villari P, Knoppers BM, Zawati M (2020) The provision of genetic testing and related services in Quebec. Canada Front Genet 11:127. https://doi.org/10.3389/fgene.2020.00127
Unim B, Pitini E, Lagerberg T et al (2019) Current genetic service delivery models for the provision of genetic testing in Europe: a systematic review of the literature. Front Genet 10.https://doi.org/10.3389/fgene.2019.00552
Acknowledgements
To the directors of the genetics services that collaborated with this work from the University Hospital Center of Coimbra (Centro Hospitalar Universitário de Coimbra), the University Hospital Center of São João (Centro Hospitalar Universitário de São João), the University Hospital Center of Central Lisbon (Centro Hospitalar Universitário de Lisboa Central), and the University Hospital Center of North Lisbon (Centro Hospitalar Universitário Lisboa Norte) and the Hospital of Braga.
Funding
This study was carried out with the financing of the PhD scholarship concluded with the Foundation for Science and Technology (Fundação para a Ciência e Tecnologia) with the reference SFRH/BD/145679/2019, attributed to the author Catarina Costa.
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CC: study design, data collection and interpretation, writing of the manuscript.
MSL: critical review of the work and approval of the final version of the manuscript.
LFA: critical review of the work and approval of the final version of the manuscript.
MP: data collection and interpretation, critical review of the work, and approval of the final version of the manuscript.
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Costa, C., Lemos, M.S., Azevedo, L.F. et al. Service provision of genetics health care in Portugal. J Community Genet 14, 101–113 (2023). https://doi.org/10.1007/s12687-022-00617-9
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DOI: https://doi.org/10.1007/s12687-022-00617-9
Keywords
- Genetics services
- Genomics
- Health policy
- Health services accessibility
- Human genetics
- Public health