Concluding Remarks

Bayesian analysis plays a central role in genetic risk assessment, and those who offer genetic testing should be proficient. Genetic risk should be assessed as accurately as possible, using all available information at a particular point in time, from the pedigree, from laboratory testing, or from both. Although the technologies for genetic testing will continue to change, Bayesian analysis and genetic risk assessment will remain fundamental aspects of genetic testing and genetic counseling.

References

1. Bay es T. An essay towards solving a problem in the doctrine of chances. Biometrika. 1958;45:296-315.

2. Young I. Introduction to Risk Calculation in Genetic Counseling. Oxford: Oxford University Press; 1999.

3. Bridge P. The Calculation of Genetic Risks: Worked Examples in DNA Diagnostics. Baltimore: Johns Hopkins University Press; 1997.

4. Ogino S, Leonard DGB, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110:301-307.

5. Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111:477-500.

6. Ogino S,Wilson RB. Bayesian analysis and risk assessment in genetic counseling and testing. J Mol Diagn. 2004;6:1-9.

7. Ogino S, Wilson RB, Gold B, Hawley P, Grody WW. Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening. Genet Med. 2004;6:439-449.

8. Ogino S, Wilson RB, Grody WW. Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation. J Med Genet. 2004;41:e70.

9. Ogino S, Flodman P, Wilson RB, Gold B, Grody WW. Risk calculations for cystic fibrosis in neonatal screening by immunoreactive trypsinogen and CFTR mutation tests. Genet Med. 2005;7:317-327.

10. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3:149-154.

11. Richards CS, Bradley LA, Amos J, et al. Standards and guidelines for CFTR mutation testing. Genet Med. 2002;4:379-391.

12. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6:387-391.

13. Wirth B, Herz M, Wetter A, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999;64:1340-1356.

14. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplo-type frequency calculations. Eur J Hum Genet. 2004;12:1015-1023.

Was this article helpful?

0 0

Post a comment