The duty to re-contact for newly appreciated risk factors: Fragile X premutation

Journal of Clinical Ethics

Volumn 17, Issue 1, 2006, Pages 46-52

  Guzauskas, Gregory F ^a   Lebel, Robert Roger ^a  

^a GREENWOOD GENETIC CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

BENEFICENCE; DUTY TO RECONTACT; FRAGILE X SYNDROME; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HUMAN; LEGAL ASPECT; MEDICAL GENETICS; MUTATION; ONSET AGE; ORGANIZATION AND MANAGEMENT; PERSONAL AUTONOMY; REVIEW; RISK ASSESSMENT; RISK FACTOR;

AGE OF ONSET; BENEFICENCE; DUTY TO RECONTACT; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; GENETICS, MEDICAL; HETEROZYGOTE; HUMANS; MUTATION; PERSONAL AUTONOMY; RISK ASSESSMENT; RISK FACTORS;

EID: 33646195110     PISSN: 10467890     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (33)

1. R.J. Hagerman and P.J. Hagerman, Fragile X Syndrome (Baltimore: Johns Hopkins University Press, 2002), 145.
2. See note 1 above, p. 141.
3. R.E. Stevenson, C.E. Schwartz, and R.J. Schroer, X-Linked Mental Retardation (New York: Oxford 2000), 37.
4. P. Jin and S.T. Warren, "Understanding the Molecular Basis of Fragile X Syndrome," Human Molecular Genetics 9, no. 6 (2000): 901-8.
5. Y.-H. Fu et al., "Variation of the CGG Repeat at the Fragile X Site Results in Genetic Instability: Resolution of the Sherman Paradox," Cell 67, no. 6 (1991): 1047-58;
6. Heitz et al., "Inheritance of the Fragile X Premutation is a Major Determinant of the Transition to Full Mutation," Journal of Medical Genetics 29, no. 11 (1992): 794-801.
7. A. McConkie-Rosell et al., "Evidence that Methylation of the FMR-1 Locus is Responsible for Variable Phenotypic Expression of the Fragile X Syndrome," American Journal of Human Genetics 53, no. 4 (1993): 800-9.
8. F. Rousseau et al., "A Multicenter Study on Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB12.3: The First 2,253 Cases," American Journal of Human Genetics 55, no. 2 (1994): 225-37.
9. P.J. Hagerman, C.M. Greco, and R.J. Hagerman, "A Cerebellar Tremor/ataxia Syndrome among Fragile X Premutation Carriers," Cytogenetics and Genome Research 100, no. 1-4 (2003): 206-12.
10. S. Jacquemont et al., "Fragile X Premutation Tremor/Ataxia Syndrome: Molecular, Clinical, and Neuroimaging Correlates," American Journal of Human Genetics 72, no. 4 (2003): 869-78;
11. S. Jacquemont et al., "Penetrance of the Fragile-X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population," Journal of the American Medical Association 291, no. 4 (2004): 460-9.
12. K.M. Cornish et al., "Evidence of Tremor and Gait Disturbance in Male Premutation Carriers of Fragile X Syndrome: An Impact of Age?" 11th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation (Cyprus: Paphos, August 2003), abstract P11.
13. R.J. Hagerman et al., "Fragile-X-Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation," American Journal of Human Genetics 74, no. 5 (2004): 1051-6.
14. P. Jin et al., "RNA-Mediated Neuro-degeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila," Neuron 39, no. 5 (2003): 739-47.
15. B.A. Oostra and R. Willemsen, "A Fragile Balance: FMR1 Expression Levels," Human Molecular Genetics 12, no. 2 (2003): R249-57.
16. See note 9 above.
17. B.M. Knoppers et al., "ASHG Statement: Professional Disclosure of Familial Genetic Information," American Journal of Human Genetics 62, no. 2 (1998): 474-83.
18. K. Hirschhorn et al., "Duty to Re-Contact," Genetic Medicine 1, no. 4 (1999): 171-2.
19. J.L. Fitzpatrick et al., "The Duty to Re-Contact: Attitudes of Genetics Service Providers," American Journal of Human Genetics 64, no. 3 (1999): 852-60.
20. N.F. Sharpe, "Psychological Aspects of Genetic Counseling: A Legal Perspective," American Journal of Medical Genetics 50, no. 3 (1994): 234-8.
21. N.F. Sharpe, "The Duty to Re-Contact: Benefit and Harm," American Journal of Human Genetics 65, no. 4 (1999): 1201-4.
22. B.M. Knoppers, "Duty to Re-Contact: A Legal Harbinger?" American Journal of Medical Genetics 103, no. 4 (2001): 277-82.
23. R.R. Lebel et al., "Long-Term Re-Contact for Genetics Services," American Journal of Human Genetics 71 (suppl.) (2002): abst. 981.
24. L.E. Bernard et al., "Duty to Re-Contact: A Study of Families at Risk for Fragile X," Journal of Genetic Counseling 8, no. 1 (1999): 3-15.
25. M. Shaw, "Genetic Counseling," Science 184, no. 138(1974): 751.
26. A. McConkie-Rosell et al., "Carrier Testing in the Fragile X Syndrome: Attitudes and Opinions of Obligate Carriers," American Journal of Medical Genetics 68, no. 1 (1997): 62-9;
27. A. McConkie-Rosell et al., "Parental Attitudes Regarding Carrier Testing in Children at Risk for Fragile X Syndrome," American Journal of Medical Genetics 82, no. 3 (1999): 206-11.
28. See note 20 above.
29. R.R. Lebel, "Computerized Databases and the Limits of a Duty to Re-Contact." Readers may contact the author at rrl@ggc.org.
30. A.G. Hunter et al., "Ethical, Legal, and Practical Concerns about Re-Contacting Patients to Inform Them of New Information: The Case in Medical Genetics," American Journal of Medical Genetics 103, no. 4 (2001): 265-76.
31. Health Insurance Portability and Accountability Act of 1996. Public Law No. 104-191, §264 (1996);
32. Standards for Privacy of Individually Identifiable Health Information, 45 CFR §160(2002).
33. See note 20 above.