Carrier Screening for Cystic Fibrosis囊性纤维化的载体筛选.ppt

Provider’s Role: Purpose of screening Voluntary nature of screening Symptoms of CF, treatment and prognosis Genetics of CF and population frequencies Meaning of positive and negative test results Factors to consider in deciding to have or not to have screening Testing offered when: When both members of a couple are carriers, ie: 25% risk of having a baby with CF When one member of a couple is carrier and other member not available for testing Testing options: Chorionic villus sampling (CVS) 9-11 weeks Amniocentesis After 14 weeks Procedure In vitro fertilization One cell removed from early embryo to test for mutations which were found in parents Cell without a CF genotype transferred to mother’s uterus Caveats Technically demanding and complex procedure Available on a limited basis Expensive: $4,000 - $12,000 Ethical implications Does not detect all carriers Estimate of residual risk applies only when family history is negative and to the current pregnancy Cannot make reliable predictions for outcome based on mutations Non-paternity Various outcomes of prenatal and newborn testing will generate need for genetic counseling: Newly diagnosed child with CF Healthy males who carry mutations associated with infertility Identification of positive/negative couples who request additional mutational analyses or counseling to clarify residual risk Positive/positive couples Ethical Unnecessary anxiety created Inadequate pretest information Legal Informed consent Insurance discrimination Social Expense swell health costs Societal pressure not to bear affected offspring Cystic Fibrosis Foundation  GeneTests and GeneReviews National Society of Genetic Counselors Mountain States Genetics Network “It will be very important to see how this goes. Certainly it requires primary care providers to become more familiar with genetics than many of them have previously had occasion to do.” -Francis Collins * * * Proposed advantages cholera infection, higher fe