Luigi Donato, Concetta Scimone, Simona Alibrandi, Rosalia D’Angelo, Antonina Sidoti
Abstract
Implementing clinical practice guidelines, based on a systematic review of clinical evidence, is fundamental to sustain the decision-making procedures in patient care. Development of guidelines is needed for genetic tests regarding human genome/genes including cytogenetic tests, biochemical genetic tests and molecular genetic tests. Main aspects that should be considered when implementing guidelines for genetic testing regards 1) Usefulness of genetic test in patients who have already developed a disease; 2) Genetic testing for prenatal diagnosis, non-progressive carrier diagnosis and pre-symptomatic diagnosis; 3) Genetic testing for a minor or a person lacking the ability to make his/her autonomous decision; 4) Pharmacogenetic tests; 5) Genetic tests for multifactorial diseases. Since genetic tests of different diseases and disease-subgroups have been carried out in a wide range of medical fields, it is recommended that each national and international medical societies draw up and follow guidelines for each disease to obtain unique and universal diagnosis.
References
1. Oda H, Kastner DL. Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases. Rheum Dis Clin North Am 2017;43:327-345.
2. Cristoferi L, Nardi A, Invernizzi P, Mells G, Carbone M. Individualizing Care: Management Beyond Medical Therapy. Clin Liver Dis 2018;22:545-561.
3. Campbell DD, Li Y, Sham PC. Multifactorial disease risk calculator: Risk prediction for multifactorial disease pedigrees. Genet Epidemiol 2018;42:130-133.
4. Fonhus MS, Dalsbo TK, Johansen M, Fretheim A, Skirbekk H, Flottorp SA. Patient-mediated interventions to improve professional practice. Cochrane Database Syst Rev 2018;9:CD012472.
5. Ahluwalia SC, Chen C, Raaen L, Motala A, Walling AM, Chamberlin M, O’Hanlon C, Larkin J, Lorenz K, Akinniranye O, Hempel S. A Systematic Review in Support of the National Consensus Project Clinical Practice Guidelines for Quality Palliative Care, Fourth Edition. J Pain Symptom Manage 2018.
6. Parimbelli E, Marini S, Sacchi L, Bellazzi R. Patient similarity for precision medicine: A systematic review. J Biomed Inform 2018;83:87-96.
7. Tack V, Dufraing K, Deans ZC, van Krieken HJ, Dequeker EMC. The ins and outs of molecular pathology reporting. Virchows Arch 2017;471:199-207.
8. Scally A. Mutation rates and the evolution of germline structure. Philos Trans R Soc Lond B Biol Sci 2016;371.
9. Swanson A, Goldberg JD. Industry perspectives on prenatal genetic testing. Semin Perinatol 2018;42:314-317.
10. Saini N, Gordenin DA. Somatic mutation load and spectra: A record of DNA damage and repair in healthy human cells. Environ Mol Mutagen 2018;59:672-686.
11. Sandler S, Alfino L, Saleem M. The importance of preventative medicine in conjunction with modern day genetic studies. Genes Dis 2018;5:107-111.
12. Higashi MK, Veenstra DL. Managed care in the genomics era: assessing the cost effectiveness of genetic tests. Am J Manag Care 2003;9:493-500.
13. Allen S, Young E, Bowns B. Noninvasive prenatal diagnosis for single gene disorders. Curr Opin Obstet Gynecol 2017;29:73-79.
14. Post AL, Mottola AT, Kuller JA. What’s New in Prenatal Genetics? A Review of Current Recommendations and Guidelines. Obstet Gynecol Surv 2017;72:610-617.
15. Cohn-Hokke PE, Holstege H, Weiss MM, van der Flier WM, Barkhof F, Sistermans EA, Pijnenburg YA, van Swieten JC, Meijers-Heijboer H, Scheltens P. A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds. Am J Med Genet B Neuropsychiatr Genet 2017;174:220-226.
16. Tracy A, Buckley CD, Raza K. Pre-symptomatic autoimmunity in rheumatoid arthritis: when does the disease start? Semin Immunopathol 2017;39:423-435.
17. Chapman SM, Maconochie IK. Early warning scores in paediatrics: an overview. Arch Dis Child 2018.
18. Daly AK. Pharmacogenetics: a general review on progress to date. Br Med Bull 2017;124:65-79.
19. Quinn E, McGee R, Nuccio R, Pappo AS, Nichols KE. Genetic Predisposition to Neonatal Tumors. Curr Pediatr Rev 2015;11:164-78.
20. Alhazzani W, Lewis K, Jaeschke R, Rochwerg B, Moller MH, Evans L, Wilson KC, Patel S, Coopersmith CM, Cecconi M, Guyatt G, Akl EA. Conflicts of interest disclosure forms and management in critical care clinical practice guidelines. Intensive Care Med 2018;44:1691-1698.
21. Resta RG. What have we been trying to do and have we been any good at it? A history of measuring the success of genetic counseling. Eur J Med Genet 2018.
22. LePoire E, Basu B, Walker L, Bowen DJ. What do people think about genetics? A systematic review. J Community Genet 2018.
