Genetic testing for neurologic disorders

Seminars in Neurology

Volumn 31, Issue 5, 2011, Pages 542-552

  Schneider, Susanne A ^a   Schneider, Uwe H ^b,c   Klein, Christine ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c Partner Rechtsanwälte of Counsel   (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; DIAGNOSTIC TEST; DIRECT TO CONSUMER TEST; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUNTINGTON CHOREA; INHERITANCE; NEUROLOGIC DISEASE; PARKINSONISM; PRIORITY JOURNAL;

GENETIC COUNSELING; GENETIC TESTING; HUMANS; NERVOUS SYSTEM DISEASES; PENETRANCE;

EID: 84856200092     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0031-1299792     Document Type: Article

References (63)

1. Morling N, Allen R W., Carracedo A et al, Paternity Testing Commission of the International Society of Forensic Genetics. Paternity Testing Commission of the International Society of Forensic Genetics: recommendations on genetic investigations in paternity cases. Forensic Sci Int 2002 129 3 148-157
2. Budowle B, van Daal A. Extracting evidence from forensic DNA analyses: future molecular biology directions. Biotechniques 2009 46 5 339-340, 342350
3. Godard B, Raeburn S, Pembrey M, Bobrow M, Farndon P, Aym S. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet 2003 11 Suppl 2 S123-S142 (Pubitemid 38263571)
4. Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher M G., Lang A E. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 2007 6 7 652-662 (Pubitemid 46921058)
5. West A, Periquet M, Lincoln S et al, French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility on Parkinson's Disease. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002 114 5 584-591 (Pubitemid 34680590)
6. Risch N J., Bressman S B., Senthil G, Ozelius L J. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007 80 6 1188-1193 (Pubitemid 47579354)
7. McConkie-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 5 593-606 (Pubitemid 350163646)
8. Schneider S A., Bhatia K P., Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009 24 4 490-499
9. Schneider S A., Bhatia K P. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol 2010 68 5 575-577
10. Klein C, Schneider S A., Lang A E. Hereditary parkinsonism: Parkinson disease look-alikesan algorithm for clinicians to PARK genes and beyond. Mov Disord 2009 24 14 2042-2058
11. Schneider S A., Walker R H., Bhatia K P. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol 2007 3 9 517-525 (Pubitemid 47377611)
12. 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. Available at: http://conventions coe int/treaty/en/treaties/html/164 htm Accessed Jan 2011
13. Sermon K, Seneca S, De Rycke 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-S85
14. 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 10 591-598 (Pubitemid 35277291)
15. Geraedts J P., De Wert G M. Preimplantation genetic diagnosis. Clin Genet 2009 76 4 315-325
16. Ross L F., Moon M R. Ethical issues in pediatric genetics. In: Mahowald MB, McJusick VA, Scheuerle AS et al., eds. Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care. St Louis, MO Mosby 2010 153-166
17. Nelson R M., Botkin J R., Kodish E D. et al, Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics 2001 107 6 1451-1455 (Pubitemid 32525235)
18. Borry P, Stultiens L, Nys H, Cassiman J J., Dierickx K. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006 70 5 374-381 (Pubitemid 44515636)
19. Borry P, Evers-Kiebooms G, Cornel M C., Clarke A, Dierickx K, Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet 2009 17 6 711-719
20. Borry P, Stultiens L, Goffin T, Nys H, Dierickx K. Minors and informed consent in carrier testing: a survey of European clinical geneticists. J Med Ethics 2008 34 5 370-374
21. Borry P, Goffin T, Nys H, Dierickx K. Predictive genetic testing in minors for adult-onset genetic diseases. Mt Sinai J Med 2008 75 3 287-296
22. McBride C M., Wade C H., Kaphingst K A. Consumers' views of direct-to-consumer genetic information. Annu Rev Genomics Hum Genet 2010 11 427-446
23. Jedermanns Gentest. Analysen von Erbinformation werden günstiger/Die Zahl der Anbieter steigt rasant, aber nicht alle sind serioes. Frankfurt am Main, Germany Frankfurter Allgemeine Zeitung 2011 p.16.06.06
24. Boddington P. The ethics and regulation of direct-to-consumer genetic testing. Genome Med 2009 1 7 71
25. European Society of Human Genetics. Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes. Eur J Hum Genet 2010 18 12 1271-1273
26. Tamir S. Direct-to-consumer genetic testing: ethical-legal perspectives and practical considerations. Med Law Rev 2010 18 2 213-238
27. Ensenauer R E., Michels V V., Reinke S S. Genetic testing: practical, ethical, and counseling considerations. Mayo Clin Proc 2005 80 1 63-73 (Pubitemid 40075994)
28. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease. Neurology 1994 44 8 1533-1536
29. Bressman S B., Sabatti C, Raymond D et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000 54 9 1746-1752 (Pubitemid 30428400)
30. Harbo H F., Finsterer J, Baets J et al, EFNS. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol 2009 16 7 777-785
31. Kuhlenbäumer G, Hullmann J, Appenzeller S. Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat 2011 32 2 144-151
32. The Genetic Information Nondiscrimination Act of 2008. Available at: http://www.govtrack.us/congress/billtext.xpd?bill=h110-493&show-changes= 0&page-command=print Accessed Jan 2011
33. Thiele F. Genetic tests in the insurance system: criteria for a moral evaluation. Poiesis Prax 2003 3 1 185-195
34. Regenauer A. Genetic testing and insurance a global view. Munich, Germany Munich Reinsurance Company 2000
35. Ziegler J, Ziegler A. Gendiagnostikgesetz und versicherung: Anspruch und Wirklichkeit. Zeitschrift für die gesamte Versicherungswissenschaft 2011 100 29-53
36. Brinkmann Th. Die Zulaessigkeit der Verwertung von genetischen Informationen im Deutschen und Amerikanischen Versicherungsrecht. Karlsruhe, Germany Verlag Versicherungswirtschaft GmbH 2006
37. Simon J, Knoepffler N, Buyten R. Gendiagnostik und Versicherungdie internationale Lage im Vergleich. Baden Baden, Germany Nomos 2001
38. Nicolás P. Ethical and juridical issues of genetic testing: a review of the international regulation. Crit Rev Oncol Hematol 2009 69 2 98-107
39. Präve P. Das Gendiagnostikgesetz aus Versicherungsrechtlicher Sicht. Zeitschrift für versicherungsrecht, Haftungsund Schadenrecht 2009 60 857-912
40. Brand O. Grenzen der vorvertraglichen Anzeigepflicht des Versicherungsnehmers. VersR 2009 16 715-721
41. 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 2 68-74 (Pubitemid 128730523)
42. Netzer C, Klein C, Kohlhase J, Kubisch C. New challenges for informed consent through whole genome array testing. J Med Genet 2009 46 7 495-496
43. Greendale K, Pyeritz R E. Empowering primary care health professionals in medical genetics: how soon? How fast? How far? Am J Med Genet 2001 106 3 223-232 (Pubitemid 32983390)
44. Harvey E K., Fogel C E., Peyrot M, Christensen K D., Terry S F., McInerney J D. Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. Genet Med 2007 9 5 259-267 (Pubitemid 46788191)
45. Tomatir A G., Sorkun H C., Demirhan H, Akda B. Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genet Med 2007 9 2 130-135
46. Meiser B, Dunn S. Psychological impact of genetic testing for Huntington's disease: an update of the literature. J Neurol Neurosurg Psychiatry 2000 69 5 574-578
47. Falcone D C., Wood E M., Xie S X., Siderowf A, Van Deerlin V M. Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest. J Genet Couns 2011 20 4 384-395
48. Mastromauro C, Myers R H., Berkman B. Attitudes toward presymptomatic testing in Huntington disease. Am J Med Genet 1987 26 2 271-282
49. Jacopini G A., D'Amico R, Frontali M, Vivona G. Attitudes of persons at risk and their partners toward predictive testing. Birth Defects Orig Artic Ser 1992 28 1 113-117
50. Jacobs H, Latza U, Vieregge A, Vieregge P. Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing. Genet Couns 2001 12 1 55-67 (Pubitemid 32244705)
51. Bombard Y, Veenstra G, Friedman J M. et al, Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ 2009 338 b2175
52. Tan E K., Lee J, Hunter C, Shinawi L, Fook-Chong S, Jankovic J. Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population. J Neurol Sci 2007 252 2 113-120 (Pubitemid 46048642)
53. Williams J K., Schutte D L., Evers C, Holkup P A. Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders. Res Nurs Health 2000 23 4 260-269
54. Almqvist E W., Bloch M, Brinkman R, Craufurd D, Hayden M R. 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 5 1293-1304 (Pubitemid 30468747)
55. Coustasse A, Pekar A, Sikula A, Lurie S. Ethical considerations of genetic presymptomatic testing for Huntington's disease. J Hosp Mark Public Relations 2009 19 2 129-141
56. Craufurd D, Tyler A. Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. J Med Genet 1992 29 12 915-918 (Pubitemid 23035220)
57. 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 4 445-452 (Pubitemid 351420377)
58. Robins Wahlin T B. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns 2007 65 3 279-287
59. ACMG Laboratory Practice Committee Working Group. ACMG recommendations for standards for interpretation of sequence variations. Genet Med 2000 2 302-303
60. Petrucelli N, Lazebnik N, Huelsman K M., Lazebnik R S. 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 2 107-113
61. Durbin R M., Abecasis G R., Altshuler D L. et al, 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010 467 7319 1061-1073
62. McInerney-Leo A, Hadley D W., Gwinn-Hardy K, Hardy J. Genetic testing in Parkinson's disease. Mov Disord 2005 20 1 1-10 (Pubitemid 40277497)
63. Schneider S A., Klein C. What is the role of genetic testing in movement disorders practice? Curr Neurol Neurosci Rep 2011 11 4 351-361