Have a personal or library account? Click to login
Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level – A New Tool for Primary Prevention: A Study Protocol Cover

Development of an Algorithm for Determining of Genetic Risk at the Primary Healthcare Level – A New Tool for Primary Prevention: A Study Protocol

Open Access
|Dec 2019

References

  1. Guttmacher AE, Collins FS, Carmona RH. The family history - more important than ever. New Engl J Med. 2004;351(22):2333–6.
  2. The global burden of disease: 2004 update. Geneva: World Health Organisation, 2008. Accessed August 9, 2019 at: https://www.who.int/healthinfo/global_burden_disease/2004_report_update/en/.
  3. Weissman MM, Berry OO, Warner V, Gameroff MJ, Skipper J, Talati A, et al. A 30-year study of 3 generations at high risk and low risk for depression. JAMA Psychiatry. 2016;73(9):970–7. doi: 10.1001/jamapsychiatry.2016.1586.
  4. Cannon-Albright LA, Foster NL, Schliep K, Farnham JM, Teerlink CC, Kaddas H, et al. Relative risk for Alzheimer’s disease based on complete family history. Neurology. 2019;92(15):e1745–53. doi: 10.1212/WNL.0000000000007231.
  5. Melo DG, de Paula PK, de Araujo Rodrigues S, da Silva de Avó LR, Germano CM, Demarzo MM. Genetics in primary health care and the national policy on comprehensive care for people with rare diseases in Brazil: opportunities and challenges for professional education. J Community Genet. 2015;(3):231–40. doi: 10.1007/s12687-015-0224-6.
  6. Verma IC, Puri RD. Global burden of genetic disease and the role of genetic screening. Semin Fetal Neonatal Med. 2015;20(5):354–63. doi: 10.1016/j.siny.2015.07.002.
  7. Scheuner MT, Raffel LJ, Larabell SK, Rotter JI. Family history: a comprehensive genetic risk assessment for chronic conditions of adulthood. Am J Med Genet. 1997;71(3):315–24.
  8. Poplas-Susic T, Svab I, Kersnik J. The project of model practices in family medicine in Slovenia. Zdrav Vestn. 2013;82(10):635–47.
  9. Vodopivec-Jamsek V. The protocol of chronic patient management in a family medicine practice. Zdrav Vestn. 2013;82:711–7.
  10. Tamosiunas A, Radisauskas R, Klumbiene J, Bernotiene G, Petkeviciene J, Luksiene D, et al. The prognostic value of family history for the estimation of cardiovascular mortality risk in men: results from a long-term cohort study in Lithuania. PLoS One. 2015;10(12):e0143839. doi: 10.1371/journal.pone.0143839.
  11. Piepoli MF, Hoes AW, Agewall S, Albus C, Brotons C, Catapano AL, et al. 2016 European guidelines on cardiovascular disease prevention in clinical practice: the Sixth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of 10 societies and by invited experts) Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR). Eur Heart J. 2016;37(29):2315–81. doi: 10.1093/eurheartj/ehw106.
  12. O’Neill SM, Rubinstein WS, Wang C, Yoon PW, Acheson LS, Rothrock N, et al. Familial risk for common diseases in primary care: the family healthware (TM) impact trial. Am J of Prev Med. 2009;36:506–14. doi: 10.1016/j.amepre.2009.03.002.
  13. Qureshi N, Armstrong S, Dhiman P, Saukko P, Middlemass J, Evans PH, et al. ADDFAM (Added Value of Family History in CVD Risk Assessment) Study Group. Effect of adding systematic family history enquiry to cardiovascular disease risk assessment in primary care: a matched-pair, cluster randomized trial. Ann Intern Med. 2012;156(4):253–62. doi: 10.7326/0003-4819-156-4-201202210-00002.
  14. Klemenc-Ketis Z, Peterlin B. Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia. PLoS One. 2013;8(11):e80333. doi: 10.1371/journal.pone.0080333.
  15. Tušek-Bunc K, Petek-Šter M, Petek D. Correlation of coronary heart disease patient assessment of chronic illness care and quality of care procedures. Acta Medico-Biotechnica. 2018;11(1):45–53.
  16. Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, et al. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009;9:283. doi: 10.1186/1471-2407-9-283.
  17. Welch BM, Wiley K, Pflieger L, Achiangia R, Baker K, Hughes-Halbert C, et al. Review and comparison of electronic patient-facing family health history tools. J Genet Couns. 2018;27(2):381–91. doi: 10.1007/s10897-018-0235-7.
  18. Pappas Y, Wei I, Car J, Majeed A, Sheikh A. Computer-assisted versus oral-and-written family history taking for identifying people with elevated risk of type 2 diabetes mellitus. Cochrane Database Syst Rev. 2011;12: CD008489. doi: 10.1002/14651858.CD008489.
  19. de Hoog CLMM, Portegijs PJM, Stoffers HEJH. Family history tools for primary care are not ready yet to be implemented: a systematic review. Eur J Gen Pract. 2014;20(2):125–33. doi: 10.3109/13814788.2013.840825.
  20. Škerl T, Meden A, Krajc M, Velenik V. Onkološko genetsko svetovanje in testiranje: odnos, poznavanje in praksa zdravnikov na primarni ravni: povzetek Prešernove naloge. Onkologija. 2016;20(1):22–6.
  21. Klemenc-Ketis Z, Peterlin B. Family physicians’ management of genetic aspects of a cardiac disease: a scenario-based study from Slovenia. Balkan J Med Genet. 2014;17(1):15–22. doi: 10.2478/bjmg-2014-0020.
  22. Klemenc-Ketis Z, Peterlin B. Family physicians’ self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia. Med Sci Monit. 2014;20:434–7. doi: 10.12659/MSM.890013.
  23. Nippert I, Harris HJ, Julian-Reynier C, Kristoffersson U, ten Kate LP, Anionwu E, et al. Confidence of primary care physicians in their ability to carry out basic medical genetic tasks – a European survey in five countries – Part 1. J Community Genet. 2011;2(1):1–11. doi: 10.1007/s12687-010-0030-0.
  24. Wilson PW, D’Agostino RB, Levy D, Belanger AM, Silbershatz H, Kannel WB. Prediction of coronary heart disease using risk factor categories. Circulation. 1998;97(18):1837–47.
  25. Prevolnik Rupel V, Ogorevc M. The EQ-5D health states value set for Slovenia. Zdr Varst. 2012;51(2):128–40. doi:10.2478/v10152-012-0015-y.
  26. Kolšek M, Poplas Susič T, Kersnik J. Slovenian adaptation of the original AUDIT-C questionnaire. Subst Use Misuse. 2013;48(8):581–9. doi: 10.3109/10826084.2013.793354.
  27. Selič P, Svab I, Rifel J, Pavlič DR, Cerne A, King M, et al. The pattern of physical co-morbidity and the psychosocial determinants of depression: a prospective cohort study on a representative sample of family practice attendees in Slovenia. Ment Health Fam Med. 2011;8(3):147–55.
  28. Petek D, Petek-Ster M, Tusek-Bunc K. Health behavior and health-related quality of life in patients with a high risk of cardiovascular disease. Zdr Varst. 2018;57(1):39–46. doi: 10.2478/sjph-2018-0006.
  29. Powell KP, Christianson CA, Hahn SE, Dave G, Evans LR, Blanton SH, et al. Collection of family health history for assessment of chronic disease risk in primary care. N C Med J. 2013;74(4):279–86.
  30. Christianson CA, Powell KP, Hahn SE, Blanton SH, Bogacik J, Henrich VC. The use of a family history risk assessment tool in a community health care setting: views of primary care providers. J Genet Couns. 2012;21(5):652–61.
DOI: https://doi.org/10.2478/sjph-2020-0004 | Journal eISSN: 1854-2476 | Journal ISSN: 0351-0026
Language: English
Page range: 27 - 32
Submitted on: Apr 10, 2019
|
Accepted on: Oct 21, 2019
|
Published on: Dec 13, 2019
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2019 Polona Selič, Zalika Klemenc-Ketiš, Erika Zelko, Andrej Kravos, Janez Rifel, Irena Makivić, Antonija Poplas Susič, Špela Tevžič, Metka Cerovič, Borut Peterlin, Nena Kopčavar Guček, published by National Institute of Public Health, Slovenia
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.