What makes genetics evaluation Different? Comprehensive approach to medical problem Defining etiology Discuss implication of diagnosis Discuss implication for family members Giving bad news Combining diagnostic evaluation and counseling
What Makes Genetics Evaluation Different? • Comprehensive approach to medical problem • Defining Etiology • Discuss implication of diagnosis • Discuss implication for family members • Giving bad news • Combining diagnostic evaluation and counseling
Common indications for referral () 1. Previous child with multiple congenital anomalies. mental retardation or an isolated birth defect. such as neural tube defect, cleft lip and palate. 2. Family history of a hereditary condition such as cystic fibrosis, fragile x syndrome, or diabetes 3. Prenatal diagnosis for advanced maternal age or other indication
Common indications for referral (I) 1. Previous child with multiple congenital anomalies, mental retardation or an isolated birth defect, such as neural tube defect, cleft lip and palate. 2. Family history of a hereditary condition, such as cystic fibrosis, fragile X syndrome, or diabetes. 3. Prenatal diagnosis for advanced maternal age or other indication
Common indications for referral (d) 4. Consanguinity 5. Teratogen exposure, such as to occupational chemicals, medications, alcohol 6. Repeated pregnancy loss or infertility. 7. Newly diagnosed abnormality or genetic condition
Common indications for referral (II) 4. Consanguinity. 5. Teratogen exposure, such as to occupational chemicals, medications, alcohol. 6. Repeated pregnancy loss or infertility. 7. Newly diagnosed abnormality or genetic condition
Common indications for referral (lID 8. Before undertaking genetic testing and after receiving results, particularly when testing for susceptibility to late-onset disorders, such as cancer or neurological disease 9. As follow-up for a positive newborn test as with PKU, or a heterozygote screening test, such as Tay-sachs
Common indications for referral (III) 8. Before undertaking genetic testing and after receiving results,particularly when testing for susceptibility to late-onset disorders, such as cancer or neurological disease. 9. As follow-up for a positive newborn test, as with PKU, or a heterozygote screening test, such as Tay-Sachs
GC Case Management I. Collection of information Family history (questionnaire) Medical history Tests or additional assessments
GC Case Management I. Collection of information Family history (questionnaire) Medical history Tests or additional assessments