Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Shuji OginoWayne W Grody

Abstract

Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in complex risk calculations. We previously developed generalizable Bayesian methods to calculate the autosomal recessive disease risk of a fetus when one or no mutation is detected, and another, independent risk factor is present. Our methods are particularly useful for calculating the CF disease risk for a fetus with echogenic bowel. In genetics practice, however, there are other scenarios for which our previous methods are inadequate. We provide herein methods for calculating genetic risks in a variety of common clinical scenarios. These scenarios include the following: (1) different mutation panels that have been used for the parents and for a fetus; (2) genetic testing results available on the proband or other relatives, in addition to the consultand; (3) fetal ultrasound negative for echogenic bowel with a positive family history; and (4) a consultand with a mixed ethnic background. Our Bayesian methods have proven their versatility through application to many different common genetic counseling scenarios. These methods permit autosomal recessive disease and carrier probabilities to be calculated accurat...Continue Reading

References

Nov 23, 1991·Lancet·N J Wald
Apr 3, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·W W GrodyUNKNOWN Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG. American College of Medical Ge
Oct 24, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Carolyn Sue RichardsGlenn E Palomaki
Nov 19, 2002·Human Genetics·Shuji Ogino, Robert B Wilson
Jun 19, 2003·Prenatal Diagnosis·N J WaldG E Palomaki
Jan 9, 2004·Expert Review of Molecular Diagnostics·Carolyn S Richards, Wayne W Grody
Jan 23, 2004·The Journal of Molecular Diagnostics : JMD·Shuji Ogino, Robert B Wilson

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Citations

May 26, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Shuji OginoWayne W Grody

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