What is the role of genetic testing in movement disorders practice?

Current Neurology and Neuroscience Reports

Volumn 11, Issue 4, 2011, Pages 351-361

  Schneider, Susanne A ^a   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Direct to consumer testing; Dystonia; Ethics; Genetic testing; Genetic testing in minors; GINA; Huntington's disease; Insurance companies; Legal regulations; Movement disorders; Parkinson's disease; Patient confidentiality; Prenatal testing; Presymptomatic testing; Susceptibility testing; Testing guidelines

Indexed keywords

ARTICLE; ATTITUDE TO HEALTH; CLINICAL PRACTICE; CONFIDENTIALITY; CREUTZFELDT JAKOB DISEASE; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; DYT1 GENE; ECONOMIC ASPECT; FEASIBILITY STUDY; GENE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HEALTH INSURANCE; HUMAN; LEGAL ASPECT; LRRK2 GENE; MEDICAL SOCIETY; METABOLIC DISORDER; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; NEUROPROTECTION; PARKIN GENE; PARKINSON DISEASE; PENETRANCE; PINK1 GENE; POLYGLUTAMINE DISEASE; PRACTICE GUIDELINE; PROGNOSIS; SYMPTOMATOLOGY; ETHICS; GENETIC COUNSELING; GENETICS; METABOLISM; PHENOTYPE; PSYCHOLOGICAL ASPECT; REVIEW;

PEPTIDE; POLYGLUTAMINE;

ATTITUDE TO HEALTH; CONFIDENTIALITY; GENETIC COUNSELING; GENETIC TESTING; HUMANS; MOVEMENT DISORDERS; PENETRANCE; PEPTIDES; PHENOTYPE; PHYSICIAN'S PRACTICE PATTERNS;

EID: 80054803676     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0200-4     Document Type: Article

References (54)

1. Healy DG, Falchi M, O'Sullivan SS, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 2008;7:583-90.
2. Klein C, Lohmann-Hedrich K, Rogaeva E, et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007;6:652-62. (Pubitemid 46921058)
3. Ensenauer RE, Michels VV, Reinke SS. Genetic testing: practical, ethical, and counseling considerations. Mayo Clin Proc. 2005;80:63-73. (Pubitemid 40075994)
4. Risch NJ, Bressman SB, Senthil G, et al. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet. 2007;80:1188-93. (Pubitemid 47579354)
5. Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord. 2009;24:490-9.
6. Schneider SA, Bhatia KP. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010;68:575-7.
7. Klein C, Schneider SA, Lang AE: Hereditary parkinsonism: Parkinson disease look-alikes - an algorithm for clinicians to 'PARK' genes and beyond. Mov Disord. 2009;24(14):2042-58.
8. Schneider SA, Walker RH, Bhatia KP. The Huntington's diseaselike syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol. 2007;3:517-25. (Pubitemid 47377611)
9. Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Neurology. 1994;44:1533-6.
10. Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000;54:1746-52. (Pubitemid 30428400)
11. Harbo HF, Finsterer J, Baets J, et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol. 2009;16:777-85.
12. Conkie-Rosell A, Abrams L, Finucane B, et al. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007;16:593-606. (Pubitemid 350163646)
13. Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine:convention on human rights and biomedicine. http:// conventions coe int/treaty/en/treaties/html/164 htm. 1997;
14. Borry P, Evers-Kiebooms G, Cornel MC, et al.: Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet. 2009; 17:711-719. This paper is the background document in preparation of the development of the policy recommendations of the Public and Professional Committee of the European Society of Human Genetics. It discusses general considerations regarding genetic testing of minors including the concept of best interest, participation of minors in health care decisions, parents' responsibilities to share genetic information, the role of clinical genetics, and the health care system in communication within the family.
15. Ross LF, Moon MR. Ethical issues in pediatric genetics. In: Mahowald MB, McJusick VA, Scheuerle AS, et al., editors. Genetics in the clinic: Clinical, ethical, and social implications for primary care. St Louis: Mosby; 2010. p. 153-66.
16. Nelson RM, Botkijn JR, Kodish ED, et al. Committee on bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics. 2001;107:1451-5. (Pubitemid 32525235)
17. Borry P, Stultiens L, Nys H, et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet. 2006;70:374-81. (Pubitemid 44515636)
18. Borry P, Stultiens L, Goffin T, et al. Minors and informed consent in carrier testing: a survey of European clinical geneticists. J Med Ethics. 2008;34:370-4.
19. Borry P, Goffin T, Nys H, et al. Predictive genetic testing in minors for adult-onset genetic diseases. Mt Sinai J Med. 2008;75:287-96.
20. Sermon K, Seneca S, De Rijcke M, et al. PGD in the lab for triplet repeat diseases-myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mol Cell Endocrinol. 2001;183 Suppl 1: S77-85.
21. Sermon K, De Rijcke M, Lissens W, et al. Preimplantation genetic diagnosis for Huntington's disease with exclusion testing. Eur J Hum Genet. 2002;10:591-8. (Pubitemid 35277291)
22. Geraedts JP, De Wert GM. Preimplantation genetic diagnosis. Clin Genet. 2009;76:315-25.
23. Mandich P, Jacopini G, Di Maria E, et al. Predictive testing for Huntington's disease: ten years' experience in two Italian centres. Ital J Neurol Sci. 1998;19:68-74. (Pubitemid 128730523)
24. Edgeworth JA, Farmer M, Sicilia A, et al.: Detection of prion infection in variant Creutzfeldt-Jakob disease: a blood-based assay. Lancet. 2011;377(9764):487-93.
25. Duncan RE, Delatycki MB, Collins SJ, et al. Ethical considerations in presymptomatic testing for variant CJD. J Med Ethics. 2005;31:625-30. (Pubitemid 41701031)
26. Meiser B, Dunn S. Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatry. 2000;69:574-8.
27. Mastromauro C, Myers RH, Berkman B. Attitudes toward presymptomatic testing in Huntington disease. Am J Med Genet. 1987;26:271-82.
28. Jacopini GA, D'Amico R, Frontali M, et al. Attitudes of persons at risk and their partners toward predictive testing. Birth Defects Orig Artic Ser. 1992;28:113-7.
29. Jacobs H, Latza U, Vieregge A, et al. Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing. Genet Couns. 2001;12:55-67. (Pubitemid 32244705)
30. Bombard Y, Veenstra G, Friedman JM, et al. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009;338:b2175.
31. Tan EK, Lee J, Hunter C, et al. Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population. J Neurol Sci. 2007;252:113-20. (Pubitemid 46048642)
32. Almqvist EW, Bloch M, Brinkman R, et al. A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet. 1999;64:1293-304. (Pubitemid 30468747)
33. Coustasse A, Pekar A, Sikula A, et al. Ethical considerations of genetic presymptomatic testing for Huntington's disease. J Hosp Mark Public Relations. 2009;19:129-41.
34. Williams JK, Schutte DL, Evers C, et al. Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders. Res Nurs Health. 2000;23:260-9.
35. Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns. 2007;65:279-87.
36. Craufurd D, Tyler A. Predictive testing for Huntington's disease: protocol of the UK huntington's Prediction Consortium. J Med Genet. 1992;29:915-8. (Pubitemid 23035220)
37. Rantanen E, Hietala M, Kristoffersson U, et al. What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet. 2008;16:445-52. (Pubitemid 351420377)
38. Morling N, Allen RW, Carracedo A, et al. Paternity testing commission of the international society of forensic genetics: recommendations on genetic investigations in paternity cases. Forensic Sci Int. 2002;129:148-57.
39. Budowle B, van Daal A. Extracting evidence from forensic DNA analyses: future molecular biology directions. Biotechniques. 2009;46:339-50.
40. Godard B, Raeburn S, Pembrey M, et al. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet. 2003;11 Suppl 2:S123-42. (Pubitemid 38263571)
41. The Genetic Information Nondiscrimination Act of 2008. http://www. govtrack.us/congress/billtext.xpd?bill=h110-493&show-changes= 0&page-command=print. 2010. Ref Type: Electronic Citation
42. Brinkmann TH. Die Zulaessigkeit der Verwertung von genetischen Informationen im deutschen und amerikanischen Versicherungsrecht. Karlsruhe: Verlag Versicherungswirthschaft GmbH; 2006.
43. Simon J, Knoepffler N, Buyten R. Gendiagnostik und Versicherung - die internationale Lage im Vergleich. Baden Baden: Nomos; 2001.
44. Nicolas P. Ethical and juridical issues of genetic testing: a review of the international regulation. Crit Rev Oncol Hematol. 2009;69:98-107.
45. Ziegler J, Ziegler A: Gendiagnostikgesetz und Versicherung: Anspruch und Wirklichkeit. Zeitschrift für die gesamte Versicherungswissenschaft. 2011;100:29-53. New laws have been enacted to regulate the improper use of genetic information by health and life insurers. However, as the authors elaborate there are legal discrepancies. Examples include the yet incomplete protection against genetic discrimination and, on the other hand, the violation of the right to genetic informational self-determination. Harmonization of legal systems thus appears to be a timely and urgent task.
46. Präve P. Das Gendiagnostikgesetz aus versicherungsrechtlicher Sicht. Zeitschrift für Versicherungsrecht, Haftungs- und Schadenrecht. 2009;60:857-912.
47. Netzer C, Klein C, Kohlhase J, et al. New challenges for informed consent through whole genome array testing. J Med Genet. 2009;46:495-6.
48. Kuhlenbaumer G, Hullmann J, Appenzellerm S: Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat. 2011;32(2):144-5.
49. Boddington P. The ethics and regulation of direct-to-consumer genetic testing. Genome Medicine. 2009;1:71.
50. Tamir S: Direct-to-consumer genetic testing: ethical - legal perspectives and practical considerations. Medical Law Review. 2010; 18:213-238. This recent paper discusses the complexity, implications, limitations, and potentially harmful role of the increasing demand of instantaneous DTC genetic testing. The author compares major companies offering DTC and points out the lacunae of legislative regulations.
51. Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-73.
52. ACMG Laboratory Practice Committee Working Group. ACMG recommendations for standards for interpretation of sequence variations. Genet Med. 2000;2:302-3.
53. Petrucelli N, Lazebnik N, Huelsman KM, et al. Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice. Genet Test. 2002;6:107-13.
54. McInerney-Leo A, Hadley DW, Gwinn-Hardy K, et al. Genetic testing in Parkinson's disease. Mov Disord. 2005;20:1-10. (Pubitemid 40277497)